Harry Pachajoa

Affiliations
  • Universidad Icesi, Facultad de Ciencias de la Salud. Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER). Cali, Colombia.
  • Fundación Clínica Valle del Lili. Cali, Colombia.

Publications (61)

Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report.

Colombia medica (Cali, Colombia)
Avec: Diana Ramirez-Montaño , Harry Pachajoa

A Novel Intronic

The application of clinical genetics
Avec: Erica Aristizábal , Lorena Diaz-Ordóñez , Estephania Candelo , Harry Pachajoa

Genetic and congenital disorders in pre-Hispanic Moche pottery.

American journal of medical genetics. Part C, Seminars in medical genetics
Avec: Harry Pachajoa , Thomas Heyne , Estephania Candelo , Nelson Purizaca-Rosillo , Denis E Correa-Trigoso , Guillermo Gayoso , Carlos Armando Rodriguez

[Sucecesfull bone marrow transplantation in a case of familial hemophagocytic lymphohistiocytosis type 3].

Andes pediatrica : revista Chilena de pediatria
Avec: Gabriela Caicedo-Herrera , Estephania Candelo , Manuela Olaya , Paola Pérez , Diego Medina , Harry Pachajoa

Damaging variants in FOXI3 cause microtia and craniofacial microsomia.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Daniel Quiat , Andrew T Timberlake , Justin J Curran , Michael L Cunningham , Barbara McDonough , Maria A Artunduaga , Steven R DePalma , Milagros M Duenas-Roque , Joshua M Gorham , Jonas A Gustafson , Usama Hamdan , Anne V Hing , Paula Hurtado-Villa , Yamileth Nicolau , Gabriel Osorno , Harry Pachajoa , Gloria L Porras-Hurtado , Lourdes Quintanilla-Dieck , Luis Serrano , Melissa Tumblin , Ignacio Zarante , Daniela V Luquetti , Roland D Eavey , Carrie L Heike , Jonathan G Seidman , Christine E Seidman

Systemic Bevacizumab for Recurrent Respiratory Papillomatosis: A Scoping Review from 2009 to 2022.

Children (Basel, Switzerland)
Avec: Laura Torres-Canchala , Daniela Cleves-Luna , Oriana Arias-Valderrama , Estephania Candelo , María Angelica Guerra , Harry Pachajoa , Manuela Olaya

Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome.

Frontiers in genetics
Avec: Diana Marcela Vasquez-Forero , Barbara Masotto , Rosario Ferrer-Avargues , Christian Martin Moya , Harry Pachajoa

First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities.

The application of clinical genetics
Avec: Estephania Candelo , Gabriela Caicedo , Fernando Rosso , Adriana Ballesteros , Jaime Orrego , Luis Escobar , Pablo Lapunzina , Julían Nevado , Harry Pachajoa

Clear cell renal carcinoma synchronous with dedifferentiated liposarcoma: a case report and review of the literature.

Journal of medical case reports
Avec: Estefania Beltran , Juan Esteban Garcia-Robledo , Lisa X Rodríguez-Rojas , Martin Rengifo , Bladimir Perez , Harry Pachajoa , Angela R Zambrano

Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report.

The application of clinical genetics
Avec: Laura Torres-Canchala , Daniela Castaño , Nathalia Silva , Ana María Gómez , Alejandro Victoria , Harry Pachajoa

Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia.

American journal of medical genetics. Part C, Seminars in medical genetics
Avec: Harry Pachajoa , Maria Amparo Acosta , Carlos J Alméciga-Díaz , Yoseth Ariza , Lorena Diaz-Ordoñez , Gabriela Caicedo-Herrera , Daniel Cuartas , Jose Antonio Nastasi-Catanese , Diana Ramírez-Montaño , Yiseth Katherine Silva , Lina Moreno , Jose Satizabal , Natalia Garcia , Jorge Montoya , Carlos Prada , Gloria Porras , Harvy Velasco , Estephania Candelo

The Unique Spectrum of

The application of clinical genetics
Avec: Lisa Ximena Rodriguez-Rojas , Estephania Candelo , Harry Pachajoa , Juan Esteban Garcia-Robledo , Jose Antonio Nastasi-Catanese , Jorge Andres Olave-Rodriguez , Angela R Zambrano

A Patient with Bone Fragility, Multiple Fractures, Osteosarcoma, and the Variant c.143A>G in the

Orthopedic research and reviews
Avec: Harry Pachajoa , Sebastian Giraldo-Ocampo

Case report: Craniofrontonasal syndrome caused by a novel variant in the

Frontiers in genetics
Avec: Harry Pachajoa , Diana Marcela Vasquez-Forero , Sebastian Giraldo-Ocampo

Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report.

Medicine
Avec: Paola Andrea Duque-Cordoba , Lorena Diaz-Ordoñez , Juan David Gutierrez-Medina , Harry Pachajoa

Corrigendum to "Prevalence of APOL1 Risk Variants in Afro-Descendant Patients with Chronic Kidney Disease in a Latin American Country".

International journal of nephrology
Avec: Carlos E Duran , Alejandro Ramírez , Juan G Posada , Johanna Schweineberg , Liliana Mesa , Harry Pachajoa , Mayra Estacio , Eliana Manzi , Vanessa Aros , Lorena Díaz , Victor H Garcia

Microduplication of Xp22.31 and

Iranian journal of medical sciences
Avec: Estephania Candelo , Diana Ramirez-Montaño , Harry Pachajoa

FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report.

Archivos argentinos de pediatria
Avec: Felipe Ruiz-Botero , Diana Ramírez-Montaño , Harry Pachajoa

A Novel

The application of clinical genetics
Avec: Gabriel D Pinilla-Monsalve , Juliana Lores , Harry Pachajoa , Juan D López-Ponce de León , Alejandro López , Lisa X Rodríguez-Rojas , José A Nastasi-Catanese

PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country.

The application of clinical genetics
Avec: Jessica María Forero-Delgadillo , Daniela Cleves , Vanessa Ochoa , Hernando Londoño-Correa , Jaime Manuel Restrepo , José Antonio Nastasi-Catanese , Harry Pachajoa

The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report.

The application of clinical genetics
Avec: Estephania Candelo , Maria Alejandra Estrada-Mesa , Adriana Jaramillo , Carlos Humberto Martinez-Cajas , Julio Cesar Osorio , Harry Pachajoa

Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review.

JMIR research protocols
Avec: Lorena Diaz-Ordoñez , Estephania Candelo , Katherine Silva-Cuero , Wilmar Saldarriaga , Lenka Murgašová , Martin Magner , Harry Pachajoa

A Novel

The application of clinical genetics
Avec: Sebastian Giraldo-Ocampo , Rafael Adrian Pacheco-Orozco , Harry Pachajoa

FLNC Associated Restrictive Cardiomyopathy and Hypertrabeculation, a Rare Association.

Arquivos brasileiros de cardiologia
Avec: Ana M Aristizabal , Carlos Alberto Guzmán-Serrano , María Isabel Lizcano , Walter Mosquera , Juliana Lores , Harry Pachajoa , Cesar Cely

First report of Wilson disease and Bruton agammaglobulinemia in the same patient caused by new mutations in

Allergologia et immunopathologia
Avec: Manuela Olaya-Hernandez , Carolina Aristizábal-Henao , Paola Perez-Camacho , Jaime Patiño-Niño , Diego Medina-Valencia , Veronica Botero-Osorio , Harry Pachajoa

Case report: Novel frameshift mutation in

Frontiers in genetics
Avec: Natalia Diaz-Lombana , Lorena Diaz-Ordoñez , Juan David Gutierrez-Medina , Harry Pachajoa

Case report: A novel

Frontiers in medicine
Avec: Valeria Valencia-Cifuentes , Stiven Ernesto Sinisterra-Díaz , Valentina Quintana-Peña , Edgar Folleco , José A Nastasi-Catanese , Harry Pachajoa , Juan P Fernández-Cubillos

Ophthalmic genetics in South America.

American journal of medical genetics. Part C, Seminars in medical genetics
Avec: Malena Daich Varela , Rene Moya , Patricio G Schlottmann , Robert B Hufnagel , Claudia Arberas , Federico M Fernández , M Eugenia Inga , Juliana Lores , Harry Pachajoa , Carlos E Prada , Juliana M Ferraz Sallum

Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report.

Iranian journal of medical sciences
Avec: Lorena Díaz-Ordoñez , Diana Ramirez-Montaño , Estephania Candelo , Santiago Cruz , Harry Pachajoa

Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: Report of two cases in Colombia.

Intractable & rare diseases research
Avec: Estephania Candelo , Léa Cochard , Gabriela Caicedo-Herrera , Ana M Granados , Juan F Gomez , Lorena Díaz-Ordoñez , Diana Ramirez-Montaño , Harry Pachajoa

Deficiencia de lipasa ácida lisosomal, una patología infrecuente.

Gaceta medica de Mexico
Avec: Catalina Gómez-Duarte , Víctor García , Verónica Botero , Ana Aristizabal , Gabriel Echeverri , Harry Pachajoa

Laparoscopic Hysterectomy and Bilateral Salpingectomy in a Patient with Microduplication Syndrome (20p13p12.1) and a Bicornuate Uterus: An Unreported Association.

International journal of women's health
Avec: Harry Pachajoa , Lina Perafan , Isabella Ramos , Álvaro J Escobar

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy.

European journal of human genetics : EJHG
Avec: Nina McTiernan , Harinder Gill , Carlos E Prada , Harry Pachajoa , Juliana Lores , Auteur inconnu , Thomas Arnesen

Evaluation of

Pharmacogenomics and personalized medicine
Avec: Lorena Díaz-Ordóñez , Diana Ramírez-Montaño , Estephania Candelo , Carolina González-Restrepo , Sebastián Silva-Peña , Carlos Arturo Rojas , Mario Sepulveda Copete , Hector Raul Echavarria , Harry Pachajoa

Haploinsufficiency of SF3B2 causes craniofacial microsomia.

Nature communications
Avec: Andrew T Timberlake , Casey Griffin , Carrie L Heike , Anne V Hing , Michael L Cunningham , David Chitayat , Mark R Davis , Soghra J Doust , Amelia F Drake , Milagros M Duenas-Roque , Jack Goldblatt , Jonas A Gustafson , Paula Hurtado-Villa , Alexis Johns , Natalya Karp , Nigel G Laing , Leanne Magee , Auteur inconnu , Sureni V Mullegama , Harry Pachajoa , Gloria L Porras-Hurtado , Rhonda E Schnur , Jennie Slee , Steven L Singer , David A Staffenberg , Andrew E Timms , Cheryl A Wise , Ignacio Zarante , Jean-Pierre Saint-Jeannet , Daniela V Luquetti

[New variant in the ALG13 gene responsible for the congenital disorder of Is-type glycosylation in a male patient].

Andes pediatrica : revista Chilena de pediatria
Avec: Diana Ramírez-Montaño , Estephania Candelo , Harry Pachajoa

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.

Frontiers in genetics
Avec: Julián Nevado , Sixto García-Miñaúr , María Palomares-Bralo , Elena Vallespín , Encarna Guillén-Navarro , Jordi Rosell , Cristina Bel-Fenellós , María Ángeles Mori , Montserrat Milá , Miguel Del Campo , Pilar Barrúz , Fernando Santos-Simarro , Gabriela Obregón , Carmen Orellana , Harry Pachajoa , Jair Antonio Tenorio , Enrique Galán , Juan C Cigudosa , Angélica Moresco , César Saleme , Silvia Castillo , Elisabeth Gabau , Luis Pérez-Jurado , Ana Barcia , Maria Soledad Martín , Elena Mansilla , Isabel Vallcorba , Pedro García-Murillo , Franco Cammarata-Scalisi , Natálya Gonçalves Pereira , Raquel Blanco-Lago , Mercedes Serrano , Juan Dario Ortigoza-Escobar , Blanca Gener , Verónica Adriana Seidel , Pilar Tirado , Pablo Lapunzina , Auteur inconnu

Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the

Pharmacogenomics and personalized medicine
Avec: Lina Perafan-Valdes , Sebastian Giraldo-Ocampo , Juliana Lores , Harry Pachajoa

2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report.

BMC pediatrics
Avec: Sebastian Giraldo-Ocampo , Harry Pachajoa

Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population.

Scientific reports
Avec: Luis M Echeverry-Quiceno , Estephania Candelo , Eidith Gómez , Paula Solís , Diana Ramírez , Diana Ortiz , Alejandro González , Xavier Sevillano , Juan Carlos Cuéllar , Harry Pachajoa , Neus Martínez-Abadías

Clinical Heterogeneity and Different Phenotypes in Patients with

Genes
Avec: Alejandro Parra , Rachel Rabin , John Pappas , Patricia Pascual , Mario Cazalla , Pedro Arias , Natalia Gallego-Zazo , Alfredo Santana , Ignacio Arroyo , Mercè Artigas , Harry Pachajoa , Yasemin Alanay , Ozlem Akgun-Dogan , Lyse Ruaud , Nathalie Couque , Jonathan Levy , Gloria Liliana Porras-Hurtado , Fernando Santos-Simarro , Maria Juliana Ballesta-Martinez , Encarna Guillén-Navarro , Hugo Muñoz-Hernández , Julián Nevado , Spanish OverGrowth Registry Initiative , Jair Tenorio-Castano , Pablo Lapunzina

The Human Phenotype Ontology in 2024: phenotypes around the world.

Nucleic acids research
Avec: Michael A Gargano , Nicolas Matentzoglu , Ben Coleman , Eunice B Addo-Lartey , Anna V Anagnostopoulos , Joel Anderton , Paul Avillach , Anita M Bagley , Eduard Bakštein , James P Balhoff , Gareth Baynam , Susan M Bello , Michael Berk , Holli Bertram , Somer Bishop , Hannah Blau , David F Bodenstein , Pablo Botas , Kaan Boztug , Jolana Čady , Tiffany J Callahan , Rhiannon Cameron , Seth J Carbon , Francisco Castellanos , J Harry Caufield , Lauren E Chan , Christopher G Chute , Jaime Cruz-Rojo , Noémi Dahan-Oliel , Jon R Davids , Maud de Dieuleveult , Vinicius de Souza , Bert B A de Vries , Esther de Vries , J Raymond DePaulo , Beata Derfalvi , Ferdinand Dhombres , Claudia Diaz-Byrd , Alexander J M Dingemans , Bruno Donadille , Michael Duyzend , Reem Elfeky , Shahim Essaid , Carolina Fabrizzi , Giovanna Fico , Helen V Firth , Yun Freudenberg-Hua , Janice M Fullerton , Davera L Gabriel , Kimberly Gilmour , Jessica Giordano , Fernando S Goes , Rachel Gore Moses , Ian Green , Matthias Griese , Tudor Groza , Weihong Gu , Julia Guthrie , Benjamin Gyori , Ada Hamosh , Marc Hanauer , Kateřina Hanušová , Yongqun Oliver He , Harshad Hegde , Ingo Helbig , Kateřina Holasová , Charles Tapley Hoyt , Shangzhi Huang , Eric Hurwitz , Julius O B Jacobsen , Xiaofeng Jiang , Lisa Joseph , Kamyar Keramatian , Bryan King , Katrin Knoflach , David A Koolen , Megan L Kraus , Carlo Kroll , Maaike Kusters , Markus S Ladewig , David Lagorce , Meng-Chuan Lai , Pablo Lapunzina , Bryan Laraway , David Lewis-Smith , Xiarong Li , Caterina Lucano , Marzieh Majd , Mary L Marazita , Victor Martinez-Glez , Toby H McHenry , Melvin G McInnis , Julie A McMurry , Michaela Mihulová , Caitlin E Millett , Philip B Mitchell , Veronika Moslerová , Kenji Narutomi , Shahrzad Nematollahi , Julian Nevado , Andrew A Nierenberg , Nikola Novák Čajbiková , John I Nurnberger , Soichi Ogishima , Daniel Olson , Abigail Ortiz , Harry Pachajoa , Guiomar Perez de Nanclares , Amy Peters , Tim Putman , Christina K Rapp , Ana Rath , Justin Reese , Lauren Rekerle , Angharad M Roberts , Suzy Roy , Stephan J Sanders , Catharina Schuetz , Eva C Schulte , Thomas G Schulze , Martin Schwarz , Katie Scott , Dominik Seelow , Berthold Seitz , Yiping Shen , Morgan N Similuk , Eric S Simon , Balwinder Singh , Damian Smedley , Cynthia L Smith , Jake T Smolinsky , Sarah Sperry , Elizabeth Stafford , Ray Stefancsik , Robin Steinhaus , Rebecca Strawbridge , Jagadish Chandrabose Sundaramurthi , Polina Talapova , Jair A Tenorio Castano , Pavel Tesner , Rhys H Thomas , Audrey Thurm , Marek Turnovec , Marielle E van Gijn , Nicole A Vasilevsky , Markéta Vlčková , Anita Walden , Kai Wang , Ron Wapner , James S Ware , Addo A Wiafe , Samuel A Wiafe , Lisa D Wiggins , Andrew E Williams , Chen Wu , Margot J Wyrwoll , Hui Xiong , Nefize Yalin , Yasunori Yamamoto , Lakshmi N Yatham , Anastasia K Yocum , Allan H Young , Zafer Yüksel , Peter P Zandi , Andreas Zankl , Ignacio Zarante , Miroslav Zvolský , Sabrina Toro , Leigh C Carmody , Nomi L Harris , Monica C Munoz-Torres , Daniel Danis , Christopher J Mungall , Sebastian Köhler , Melissa A Haendel , Peter N Robinson

Prevalence of APOL1 Risk Variants in Afro-Descendant Patients with Chronic Kidney Disease in a Latin American Country.

International journal of nephrology
Avec: Carlos E Duran , Alejandro Ramírez , Juan G Posada , Johanna Schweineberg , Liliana Mesa , Harry Pachajoa , Mayra Estacio , Eliana Manzi , Vanessa Aros , Lorena Díaz , Victor H Garcia

MYT1 role in the microtia-craniofacial microsomia spectrum.

Molecular genetics & genomic medicine
Avec: Daniela V Luquetti , Carrie L Heike , Ignacio Zarante , Andrew E Timms , Jonas Gustafson , Harry Pachajoa , Gloria L Porras-Hurtado , Paola Ayala-Ramirez , Milagros M Duenas-Roque , Natalia Jimenez , Lina M Ibanez , Paula Hurtado-Villa

Hematopoietic Stem Cell Transplantation in Children with Inborn Errors of Immunity: a Multi-center Experience in Colombia.

Journal of clinical immunology
Avec: Manuela Olaya , Alexis Franco , Mauricio Chaparro , Marcela Estupiñan , David Aristizabal , Natalia Builes-Restrepo , José L Franco , Andrés F Zea-Vera , Mayra Estacio , Eliana Manzi , Estefania Beltran , Paola Perez , Jaime Patiño , Harry Pachajoa , Diego Medina-Valencia

Paraganglioma in pregnancy: interdisciplinary management during pregnancy.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
Avec: Albaro J Nieto , Lizette Trochez , Daniela Ramírez , Pedro Arguello , Guillermo Guzman , Harry Pachajoa , María Fernanda Escobar Vidarte

A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation.

Frontiers in genetics
Avec: Estephania Candelo , Ana Maria Sanz , Diana Ramirez-Montaño , Lorena Diaz-Ordoñez , Ana Maria Granados , Fernando Rosso , Julian Nevado , Pablo Lapunzina , Harry Pachajoa

New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report.

Clinical medicine insights. Pediatrics
Avec: Jessica Maria Forero-Delgadillo , Vanessa Ochoa , Natalia Duque , Jaime Manuel Restrepo , Hernando Londoño , Jose Antonio Nastasi-Catanese , Harry Pachajoa

Skin manifestations in pediatric patients with primary immunodeficiency diseases (PIDs) in a tertiary care hospital in Colombia.

The World Allergy Organization journal
Avec: William López-Quintero , Daniela Cleves , Jose David Gomez-Vasco , Paola Pérez , Jaime Patiño , Diego Medina-Valencia , Harry Pachajoa , Laura Torres-Canchala , Andres Vidal , Manuela Olaya

Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia.

American journal of medical genetics. Part C, Seminars in medical genetics
Avec: Juliana Lores , Carlos E Prada , Diana Ramírez-Montaño , José A Nastasi-Catanese , Harry Pachajoa

The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders.

American journal of medical genetics. Part C, Seminars in medical genetics
Avec: Pablo Lapunzina , Jair Tenorio-Castaño , Julián Nevado , Ángel Campos Barros , Harry Pachajoa , Víctor L Ruiz-Pérez , Eduardo E Castilla

Methylation Status of

Journal of clinical research in pediatric endocrinology
Avec: Mario Angulo , Diana Ramirez-Montaño , Laura Torres-Canchala , Ximena García , Rodrigo Lemus , Ana M. Aristizabal , Danielle Floyd-Aristizábal , Diana M. Dávalos , Lorena Diaz-Ordoñez , Harry Pachajoa

Hutchinson-Gilford Progeria Syndrome: Clinical and Molecular Characterization.

The application of clinical genetics
Avec: Harry Pachajoa , Angelica Claros-Hulbert , Ximena García-Quintero , Lina Perafan , Andres Ramirez , Andres F Zea-Vera

Hematological Findings in Lysosomal Storage Disorders: A Perspective from the Medical Laboratory.

EJIFCC
Avec: Andrés Felipe Leal , Wendy G Nieto , Estephania Candelo , Harry Pachajoa , Carlos Javier Alméciga-Díaz

Demographic and clinical characterization of pediatric group patients with inborn errors of the immune system in a Colombian tertiary hospital.

Allergologia et immunopathologia
Avec: Manuela Olaya , Daniela Cleves , Tania Guzmán , Laura Torres-Canchala , Harry Pachajoa , Diego Medina-Valencia , Jaime Patiño , José David Gómez , Paola Pérez

Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies.

Pharmacogenomics and personalized medicine
Avec: Harry Pachajoa , Eidith Gomez-Pineda , Sebastian Giraldo-Ocampo , Juliana Lores

Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations.

The application of clinical genetics
Avec: Sebastian Ciro Acosta , Lorena Díaz-Ordóñez , Juan David Gutierrez-Medina , Yisther Katherine Silva-Cuero , Luis Guillermo Arango-Vélez , Andrés Octavio García-Trujillo , Harry Pachajoa

Frequency of polymorphisms in the CYP2C9, VKORC1, and CYP4F2 genes related to the metabolism of Warfarin in healthy donors from Cali, Colombia.

Medicine
Avec: Sebastian Giraldo-Ocampo , Lorena Diaz-Ordoñez , Yisther Katherine Silva-Cuero , Juan David Gutierrez-Medina , Estephania Candelo , Javier A Diaz , Harry Pachajoa

Schimke immuno-osseous dysplasia. A case report in Colombia.

Molecular genetics and metabolism reports
Avec: Rafael Adrián Pacheco Orozco , Alejandro Padilla-Guzmán , Jessica María Forero-Delgadillo , Vanessa Amparo Ochoa Jiménez , Harry Pachajoa , Nancy Janeth Vargas Parra , Jaime M Restrepo

[Aspectos genéticos e imagenológicos de la enfermedad quística renal en pediatría: serie de casos].

Biomedica : revista del Instituto Nacional de Salud
Avec: Rafael Adrián Pacheco-Orozco , Jessica María Forero-Delgadillo , Vanessa Ochoa , Juan Sebastián Toro , Harry Pachajoa , Jaime Manuel Restrepo

2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report.

BMC pediatrics
Avec: Estephania Candelo , Sebastian Giraldo-Ocampo , Julian Nevado , Pablo Lapunzina , Harry Pachajoa

Réseau de co-auteurs

Estephania Candelo 19 collaborations
Sebastian Giraldo-Ocampo 8 collaborations
Pablo Lapunzina 7 collaborations
Lorena Diaz-Ordoñez 7 collaborations
Juliana Lores 7 collaborations
Diana Ramirez-Montaño 6 collaborations
Manuela Olaya 5 collaborations
Laura Torres-Canchala 5 collaborations
Diana Ramírez-Montaño 5 collaborations
Ignacio Zarante 4 collaborations
Juan David Gutierrez-Medina 4 collaborations
Diego Medina-Valencia 4 collaborations
Gabriela Caicedo-Herrera 3 collaborations
Paola Pérez 3 collaborations
Milagros M Duenas-Roque 3 collaborations
Paula Hurtado-Villa 3 collaborations
Gloria L Porras-Hurtado 3 collaborations
Daniela V Luquetti 3 collaborations
Carrie L Heike 3 collaborations
Jose Antonio Nastasi-Catanese 3 collaborations
Mayra Estacio 3 collaborations
Eliana Manzi 3 collaborations
José A Nastasi-Catanese 3 collaborations
Jessica María Forero-Delgadillo 3 collaborations
Daniela Cleves 3 collaborations
Vanessa Ochoa 3 collaborations
Jaime Manuel Restrepo 3 collaborations
Carlos E Prada 3 collaborations
None None 3 collaborations
Julián Nevado 3 collaborations
Julian Nevado 3 collaborations
Jaime Patiño 3 collaborations
Andrew T Timberlake 2 collaborations
Michael L Cunningham 2 collaborations
Jonas A Gustafson 2 collaborations
Anne V Hing 2 collaborations
Diana Marcela Vasquez-Forero 2 collaborations
Fernando Rosso 2 collaborations
Estefania Beltran 2 collaborations
Juan Esteban Garcia-Robledo 2 collaborations
Lisa X Rodríguez-Rojas 2 collaborations
Angela R Zambrano 2 collaborations
Carlos E Duran 2 collaborations
Alejandro Ramírez 2 collaborations
Juan G Posada 2 collaborations
Johanna Schweineberg 2 collaborations
Liliana Mesa 2 collaborations
Vanessa Aros 2 collaborations
Lorena Díaz 2 collaborations
Victor H Garcia 2 collaborations
Lorena Díaz-Ordoñez 2 collaborations
Lina Perafan 2 collaborations
Lorena Díaz-Ordóñez 2 collaborations
Andrew E Timms 2 collaborations
Encarna Guillén-Navarro 2 collaborations
Fernando Santos-Simarro 2 collaborations
Yisther Katherine Silva-Cuero 2 collaborations
Erica Aristizábal 1 collaboration
Lorena Diaz-Ordóñez 1 collaboration
Thomas Heyne 1 collaboration
Nelson Purizaca-Rosillo 1 collaboration
Denis E Correa-Trigoso 1 collaboration
Guillermo Gayoso 1 collaboration
Carlos Armando Rodriguez 1 collaboration
Diego Medina 1 collaboration
Daniel Quiat 1 collaboration
Justin J Curran 1 collaboration
Barbara McDonough 1 collaboration
Maria A Artunduaga 1 collaboration
Steven R DePalma 1 collaboration
Joshua M Gorham 1 collaboration
Usama Hamdan 1 collaboration
Yamileth Nicolau 1 collaboration
Gabriel Osorno 1 collaboration
Lourdes Quintanilla-Dieck 1 collaboration
Luis Serrano 1 collaboration
Melissa Tumblin 1 collaboration
Roland D Eavey 1 collaboration
Jonathan G Seidman 1 collaboration
Christine E Seidman 1 collaboration
Daniela Cleves-Luna 1 collaboration
Oriana Arias-Valderrama 1 collaboration
María Angelica Guerra 1 collaboration
Barbara Masotto 1 collaboration
Rosario Ferrer-Avargues 1 collaboration
Christian Martin Moya 1 collaboration
Gabriela Caicedo 1 collaboration
Adriana Ballesteros 1 collaboration
Jaime Orrego 1 collaboration
Luis Escobar 1 collaboration
Julían Nevado 1 collaboration
Martin Rengifo 1 collaboration
Bladimir Perez 1 collaboration
Daniela Castaño 1 collaboration
Nathalia Silva 1 collaboration
Ana María Gómez 1 collaboration
Alejandro Victoria 1 collaboration
Maria Amparo Acosta 1 collaboration
Carlos J Alméciga-Díaz 1 collaboration
Yoseth Ariza 1 collaboration
Daniel Cuartas 1 collaboration
Yiseth Katherine Silva 1 collaboration
Lina Moreno 1 collaboration
Jose Satizabal 1 collaboration
Natalia Garcia 1 collaboration
Jorge Montoya 1 collaboration
Carlos Prada 1 collaboration
Gloria Porras 1 collaboration
Harvy Velasco 1 collaboration
Lisa Ximena Rodriguez-Rojas 1 collaboration
Jorge Andres Olave-Rodriguez 1 collaboration
Paola Andrea Duque-Cordoba 1 collaboration
Felipe Ruiz-Botero 1 collaboration
Gabriel D Pinilla-Monsalve 1 collaboration
Juan D López-Ponce de León 1 collaboration
Alejandro López 1 collaboration
Hernando Londoño-Correa 1 collaboration
José Antonio Nastasi-Catanese 1 collaboration
Maria Alejandra Estrada-Mesa 1 collaboration
Adriana Jaramillo 1 collaboration
Carlos Humberto Martinez-Cajas 1 collaboration
Julio Cesar Osorio 1 collaboration
Katherine Silva-Cuero 1 collaboration
Wilmar Saldarriaga 1 collaboration
Lenka Murgašová 1 collaboration
Martin Magner 1 collaboration
Rafael Adrian Pacheco-Orozco 1 collaboration
Ana M Aristizabal 1 collaboration
Carlos Alberto Guzmán-Serrano 1 collaboration
María Isabel Lizcano 1 collaboration
Walter Mosquera 1 collaboration
Cesar Cely 1 collaboration
Manuela Olaya-Hernandez 1 collaboration
Carolina Aristizábal-Henao 1 collaboration
Paola Perez-Camacho 1 collaboration
Jaime Patiño-Niño 1 collaboration
Veronica Botero-Osorio 1 collaboration
Natalia Diaz-Lombana 1 collaboration
Valeria Valencia-Cifuentes 1 collaboration
Stiven Ernesto Sinisterra-Díaz 1 collaboration
Valentina Quintana-Peña 1 collaboration
Edgar Folleco 1 collaboration
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