Aleksandra Jezela-Stanek

Affiliations
  • Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland. Electronic address: jezela@gmail.com.

Publications (54)

Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia.

Balkan journal of medical genetics : BJMG
Avec: J Paprocka , B Rzepka-Migut , N Rzepka , A Jezela-Stanek , E Morava

Vertical nystagmus as a feature of PIGN-related glycosylphosphatidylinositol biosynthesis defects.

Clinical neurology and neurosurgery
Avec: Aleksandra Jezela-Stanek , Hanna Mierzewska , Elżbieta Szczepanik

GC-MS as a tool for reliable non-invasive prenatal diagnosis of Smith-Lemli-Opitz syndrome but essential also for other cholesterolopathies verification.

Ginekologia polska
Avec: Aleksandra Jezela-Stanek , Anna Siejka , Ewa M Kowalska , Violetta Hosiawa , Malgorzata Krajewska-Walasek

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.

Journal of neurology
Avec: Francesco Nicita , Fabrizia Stregapede , Alessandra Tessa , Maria Teresa Bassi , Aleksandra Jezela-Stanek , Guido Primiano , Antonio Pizzuti , Melissa Barghigiani , Marta Nardella , Ginevra Zanni , Serenella Servidei , Guja Astrea , Elena Panzeri , Cristina Maghini , Luciana Losito , Rafal Ploski , Piotr Gasperowicz , Filippo Maria Santorelli , Enrico Bertini , Lorena Travaglini

Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype.

Clinical dysmorphology
Avec: Aleksandra Jezela-Stanek , Pienkowski Victor Murcia , Dorota Jurkiewicz , Katarzyna Iwanicka-Pronicka , Maria Jędrzejowska , Małgorzata Krajewska-Walasek , Rafał Płoski

How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review.

Taiwanese journal of obstetrics & gynecology
Avec: Miroslaw Wielgos , Przemyslaw Kosinski , Piotr Jedrzejak , Małgorzata Krajewska-Walasek , Magdalena Bartnik-Glaska , Beata Nowakowska , Aleksandra Jezela-Stanek

Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG.

Biomolecules
Avec: Karolina Mitusińska , Artur Góra , Anna Bogdańska , Agnieszka Rożdżyńska-Świątkowska , Anna Tylki-Szymańska , Aleksandra Jezela-Stanek

Perinatal manifestations of congenital disorders of glycosylation-A clue to early diagnosis.

Frontiers in genetics
Avec: Milena Greczan , Dariusz Rokicki , Dorota Wesół-Kucharska , Magdalena Kaczor , Agata Rawiak , Aleksandra Jezela-Stanek

GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases.

medRxiv : the preprint server for health sciences
Avec: Hellen Lesmann , Alexander Hustinx , Shahida Moosa , Elaine Marchi , Pilar Caro , Ibrahim M Abdelrazek , Jean Tori Pantel , Hannah Klinkhammer , Merle Ten Hagen , Tom Kamphans , Wolfgang Meiswinkel , Jing-Mei Li , Behnam Javanmardi , Alexej Knaus , Annette Uwineza , Cordula Knopp , Tinatin Tkemaladze , Miriam Elbracht , Larissa Mattern , Rami Abou Jamra , Clara Velmans , Vincent Strehlow , Himanshu Goel , Beatriz Carvalho Nunes , Thainá Vilella , Isabel Furquim Pinheiro , Chong Ae Kim , Maria Isabel Melaragno , Tahsin Stefan Barakat , Amira Nabil , Julia Suh , Luisa Averdunk , Ekanem Ekure , Claudio Graziano , Prasit Phowthongkum , Nergis Güzel , Tobias B Haack , Theresa Brunet , Sabine Rudnik-Schöneborn , Konrad Platzer , Artem Borovikov , Franziska Schnabel , Lara Heuft , Vera Herrmann , Antonio F Martinez-Monseny , Matthias Höller , Khoshoua Alaaeldin , Aleksandra Jezela-Stanek , Amal Mohamed , Amaia Lasa-Aranzasti , John A Sayer , Ping Hu , Suzanna E Ledgister Hanchard , Gehad Elmakkawy , Sylvia Safwat , Frédéric Ebstein , Elke Krüger , Sébastien Küry , Annabelle Arlt , Felix Marbach , Christian Netzer , Sophia Kaptain , Hannah Weiland , Dong Li , Lucie Dupuis , Roberto Mendoza-Londono , Sofia Douzgou Houge , Denisa Weis , Brian Hon-Yin Chung , Christopher C Y Mak , Koen Devriendt , Karen W Gripp , Martin Mücke , Alain Verloes , Christian P Schaaf , Christoffer Nellåker , Benjamin D Solomon , Rebekah L Waikel , Markus M Nöthen , Ebtesam Abdalla , Gholson J Lyon , Peter M Krawitz , Tzung-Chien Hsieh

The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.

Muscle & nerve
Avec: Maria Jędrzejowska , Emilia Dębek , Bartłomiej Kowalczyk , Paulina Halat , Anna Kostera-Pruszczyk , Elżbieta Ciara , Aleksandra Jezela-Stanek , Małgorzata Rydzanicz , Piotr Gasperowicz , Monika Gos

Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series.

Genes
Avec: Karolina M Stepien , Elżbieta Ciara , Aleksandra Jezela-Stanek

Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?

Clinical dysmorphology
Avec: Aleksandra Jezela-Stanek , Paulina Pokora , Marlena Młynek , Marta Smyk , Kamila Ziemkiewicz , Agnieszka Różdżyńska-Świątkowska , Anna Tylki-Szymańska

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.

Diagnostics (Basel, Switzerland)
Avec: Patryk Lipiński , Karolina M Stępień , Elżbieta Ciara , Anna Tylki-Szymańska , Aleksandra Jezela-Stanek

Epilepsy in Mitochondrial Diseases-Current State of Knowledge on Aetiology and Treatment.

Children (Basel, Switzerland)
Avec: Dorota Wesół-Kucharska , Dariusz Rokicki , Aleksandra Jezela-Stanek

The genetic basis of classical galactosaemia in Polish patients.

Orphanet journal of rare diseases
Avec: Aleksandra Jezela-Stanek , Anna Bauer , Katarzyna Wertheim-Tysarowska , Jerzy Bal , Agnieszka Magdalena Rygiel , Jolanta Sykut-Cegielska

Pharmacological chaperone therapy for the treatment of inborn errors of metabolism

Postepy biochemii
Avec: Patryk Lipiński , Aleksandra Jezela-Stanek , Anna Tylki-Szymańska

Journal of clinical medicine
Avec: Aleksandra Jezela-Stanek , Joanna Chorostowska-Wynimko

Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG-An Observational Study and Literature Review.

Genes
Avec: Michal Hutny , Patryk Lipinski , Aleksandra Jezela-Stanek

Intrahepatic cholestasis of pregnancy and theory of inheritance of the disease. Literature review.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
Avec: Weronika Niemyjska-Dmoch , Przemysław Kosiński , Piotr Węgrzyn , Katarzyna Luterek , Aleksandra Jezela-Stanek

Interstitial Lung Disease in Rare Congenital Syndromes.

Journal of mother and child
Avec: Aleksandra Jezela-Stanek

Congenital Disorders of Glycosylation from a Neurological Perspective.

Brain sciences
Avec: Justyna Paprocka , Aleksandra Jezela-Stanek , Anna Tylki-Szymańska , Stephanie Grunewald

FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy.

Clinical genetics
Avec: Justyna Paprocka , Aleksandra Jezela-Stanek , Agniesz Koppolu , Małgorzata Rydzanicz , Joanna Kosińska , Piotr Stawiński , Rafał Płoski

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series.

International journal of molecular sciences
Avec: Aleksandra Jezela-Stanek , Elżbieta Ciara , Karolina M Stepien

Nonimmune Hydrops Fetalis-Prenatal Diagnosis, Genetic Investigation, Outcomes and Literature Review.

Journal of clinical medicine
Avec: Przemyslaw Kosinski , Pawel Krajewski , Miroslaw Wielgos , Aleksandra Jezela-Stanek

Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay - New Cases With

Frontiers in medicine
Avec: Justyna Paprocka , Magdalena Nowak , Maria Nieć , Izabela Janik , Małgorzata Rydzanicz , Śmigiel Robert , Magdalena Klaniewska , Karolina Rutkowska , Rafał Płoski , Aleksandra Jezela-Stanek

PIGN encephalopathy: Characterizing the epileptology.

Epilepsia
Avec: Allan Bayat , Guillem de Valles-Ibáñez , Manuela Pendziwiat , Alexej Knaus , Kerstin Alt , Elisa Biamino , Annette Bley , Sophie Calvert , Patrick Carney , Alfonso Caro-Llopis , Berten Ceulemans , Janice Cousin , Suzanne Davis , Vincent des Portes , Patrick Edery , Eleina England , Carlos Ferreira , Jeremy Freeman , Blanca Gener , Magali Gorce , Delphine Heron , Michael S Hildebrand , Aleksandra Jezela-Stanek , Pierre-Simon Jouk , Boris Keren , Katja Kloth , Gerhard Kluger , Marius Kuhn , Johannes R Lemke , Hong Li , Francisco Martinez , Caroline Maxton , Heather C Mefford , Giuseppe Merla , Hanna Mierzewska , Alison Muir , Sandra Monfort , Joost Nicolai , Jennifer Norman , Gina O'Grady , Barbara Oleksy , Carmen Orellana , Laura Elena Orec , Charlotte Peinhardt , Ewa Pronicka , Monica Rosello , Fernando Santos-Simarro , Eva Maria Christina Schwaibold , Alexander P A Stegmann , Constance T Stumpel , Elzbieta Szczepanik , Iwona Terczyńska , Julien Thevenon , Andreas Tzschach , Patrick Van Bogaert , Roberta Vittorini , Sonja Walsh , Sarah Weckhuysen , Barbara Weissman , Lynne Wolfe , Alexandre Reymond , Pasquelena De Nittis , Annapurna Poduri , Heather Olson , Pasquale Striano , Gaetan Lesca , Ingrid E Scheffer , Rikke S Møller , Lynette G Sadleir

The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype.

Pediatric endocrinology, diabetes, and metabolism
Avec: Dorota Wesół-Kucharska , Dariusz Rokicki , Milena Greczan , Magdalena Kaczor , Edyta Czekuć-Kryśkiewicz , Dorota Piekutowska-Abramczuk , Paulina Halat-Wolska , Elżbieta Ciara , Maciej Jaworski , Aleksandra Jezela-Stanek

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Research square
Avec: Tzung-Chien Hsieh , Hellen Lesmann , Alexander Hustinx , Shahida Moosa , Elaine Marchi , Maria Del Pilar Caro Martin , Ibrahim Abdelrazek , Jean Tori Pantel , Hannah Klinkhammer , Merle Ten Hagen , Meow-Keong Thong , Rifhan Azwani Binti Mazlan , Sok Kun Tae , Tom Kamphans , Wolfgang Meiswinkel , Jing-Mei Li , Behnam Javanmardi , Alexej Knaus , Annette Uwineza , Cordula Knopp , Tinatin Tkemaladze , Miriam Elbracht , Larissa Mattern , Rami Abou Jamra , Clara Velmans , Vincent Strehlow , Maureen Jacob , Angela Peron , Cristina Dias , Beatriz Nunes , Thainá Vilella , Isabel Pinheiro , Chong Kim , Maria Melaragno , Hannah Weiland , Sophia Kaptain , Karolina Chwiałkowska , Miroslaw Kwasniewski , Ramy Saad , Sarah Wiethoff , Himanshu Goel , Clara Tang , Anna Hau , Tahsin Stefan Barakat , Przemysław Panek , Amira Nabil , Julia Suh , Frederik Braun , Israel Gomy , Luisa Averdunk , Ekanem Ekure , Gaber Bergant , Borut Peterlin , Claudio Graziano , Nagwa Gaboon , Moisés Fiesco-Roa , Alessandro Spinelli , Nina-Maria Wilpert , Prasit Phowthongkum , Nergis Güzel , Tobias Haack , Rana Bitar , Andreas Tzschach , Agusti Rodriguez-Palmero , Theresa Brunet , Sabine Rudnik-Schöneborn , Silvina Contreras-Capetillo , Ava Oberlack , Carole Samango-Sprouse , Teresa Sadeghin , Margaret Olaya , Konrad Platzer , Artem Borovikov , Franziska Schnabel , Lara Heuft , Vera Herrmann , Renske Oegema , Nour Elkhateeb , Sheetal Kumar , Katalin Komlosi , Khoushoua Mohamed , Silvia Kalantari , Fabio Sirchia , Antonio Martinez-Monseny , Matthias Höller , Amal Mohamed , Amaia Lasa-Aranzasti , John Sayer , Nadja Ehmke , Magdalena Danyel , Henrike Sczakiel , Sarina Schwartzmann , Felix Boschann , Max Zhao , Ronja Adams , Lara Einicke , Denise Horn , Kee Seang Chew , Choy Chen Kam , Miray Karakoyun , Ben Pode-Shakked , Aviva Eliyahu , Rachel Rock , Teresa Carrion , Odelia Chorin , Yuri Zarate , Marcello Martinez , Mert Karakaya , Moon Ley Tung , Bharatendu Chandra , Aimé Lumaka , Marwan Shinawi , Patrick Blackburn , Tianyun Wang , Tim Niehues , Ping Hu , Rebekah Waikel , Suzanna Ledgister Hanchard , Gehad Elmakkawy , Sylvia Safwat , Frédéric Ebstein , Elke Krüger , Sébastien Küry , Stephane Bezieau , Annabelle Arlt , Felix Marbach , Dong Li , Lucie Dupuis , Roberto Mendoza-Londono , Sofia Douzgou Houge , Denisa Weis , Brian Chung , Christopher Mak , Nursel Elcioglu , Ayca Aykut , Peli Şimşek-Kiper , Nina Bögershausen , Bernd Wollnik , Heidi Beate Bentzen , Ingo Kurth , Christian Netzer , Aleksandra Jezela-Stanek , Koen Devriendt , Karen Gripp , Martin Mücke , Alain Verloes , Christian Schaaf , Christoffer Nellåker , Benjamin Solomon , Markus Nöthen , Ebtesam Abdalla , Gholson Lyon , Peter Krawitz , Hulya Kayserili , Louiza Toutouna , Axel Schmidt , Regina Roth , Dagmar Wieczorek , Eric Olinger

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.

Genes
Avec: Justyna Paprocka , Aleksandra Jezela-Stanek , Robert Śmigiel , Anna Walczak , Hanna Mierzewska , Anna Kutkowska-Kaźmierczak , Rafał Płoski , Ewa Emich-Widera , Barbara Steinborn

Computational Tools to Assist in Analyzing Effects of the

Genes
Avec: Jakub Mróz , Magdalena Pelc , Karolina Mitusińska , Joanna Chorostowska-Wynimko , Aleksandra Jezela-Stanek

Lessons learned from 40 novel PIGA patients and a review of the literature.

Epilepsia
Avec: Allan Bayat , Alexej Knaus , Manuela Pendziwiat , Alexandra Afenjar , Tahsin Stefan Barakat , Friedrich Bosch , Bert Callewaert , Patrick Calvas , Berten Ceulemans , Nicolas Chassaing , Christel Depienne , Milda Endziniene , Carlos R Ferreira , Carolina Fischinger Moura de Souza , Cécile Freihuber , Shiva Ganesan , Svetlana Gataullina , Renzo Guerrini , Anne-Marie Guerrot , Lars Hansen , Aleksandra Jezela-Stanek , Caroline Karsenty , Anneke Kievit , Frank R Kooy , Christian M Korff , Johanne Kragh Hansen , Martin Larsen , Valérie Layet , Gaetan Lesca , Kim L McBride , Marije Meuwissen , Cyril Mignot , Martino Montomoli , Hannah Moore , Sophie Naudion , Caroline Nava , Marie-Christine Nougues , Elena Parrini , Matthew Pastore , Jurgen H Schelhaas , Steven Skinner , Krzysztoł Szczałuba , Ashley Thomas , Mads Thomassen , Lisbeth Tranebjaerg , Marjon van Slegtenhorst , Lynne A Wolfe , Dennis Lal , Elena Gardella , Lilian Bomme Ousager , Tobias Brünger , Ingo Helbig , Peter Krawitz , Rikke S Møller

Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.

Clinical genetics
Avec: Aleksandra Jezela-Stanek , Elżbieta Szczepanik , Hanna Mierzewska , Małgorzata Rydzanicz , Karolina Rutkowska , Alexej Knaus , Robert Śmigiel , Iwona Stępniak , Michał G Markiewicz , Snir Boniel , Peter Krawitz , Rafał Płoski

Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe.

Journal of applied genetics
Avec: Aleksandra Jezela-Stanek , Agnieszka Różdżyńska-Świątkowska , Anna Kulpanovich , Elżbieta Ciara , Jolanta Marucha , Anna Tylki-Szymańska

Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.

Metabolic brain disease
Avec: Paulina Pokora , Aleksandra Jezela-Stanek , Agnieszka Różdżyńska-Świątkowska , Elżbieta Jurkiewicz , Anna Bogdańska , Edyta Szymańska , Dariusz Rokicki , Elżbieta Ciara , Małgorzata Rydzanicz , Piotr Stawiński , Rafał Płoski , Anna Tylki-Szymańska

The neuropathological findings of developmental and epileptic encephalopathy-43 (DEE43) and delineation of a the molecular spectrum of novel case.

Seizure
Avec: Hanna Mierzewska , Milena Laure-Kamionowska , Aleksandra Jezela-Stanek , Małgorzata Rydzanicz , Rafał Płoski , Elżbieta Szczepanik

Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the

Diagnostics (Basel, Switzerland)
Avec: Aleksandra Jezela-Stanek , Witold Blaz , Artur Gora , Malgorzata Bochenska , Katarzyna Kusmierska , Jolanta Sykut-Cegielska

Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria.

Diagnostics (Basel, Switzerland)
Avec: Edyta Szymańska , Aleksandra Jezela-Stanek , Anna Bogdańska , Dariusz Rokicki , Ewa Ehmke Vel Emczyńska-Seliga , Magdalena Pajdowska , Elżbieta Ciara , Anna Tylki-Szymańska

The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.

Molecular genetics & genomic medicine
Avec: Aleksandra Jezela-Stanek , Elżbieta Ciara , Dorota Jurkiewicz , Marzena Kucharczyk , Maria Jędrzejowska , Krystyna H Chrzanowska , Małgorzata Krajewska-Walasek , Tomasz Żemojtel

The Epidermal Transcriptome Analysis of a Novel c.639_642dup

International journal of molecular sciences
Avec: Katarzyna Wertheim-Tysarowska , Katarzyna Osipowicz , Bartłomiej Gielniewski , Bartosz Wojtaś , Alicja Szabelska-Beręsewicz , Joanna Zyprych-Walczak , Adriana Mika , Andrzej Tysarowski , Katarzyna Duk , Agnieszka Magdalena Rygiel , Katarzyna Niepokój , Katarzyna Woźniak , Cezary Kowalewski , Jolanta Wierzba , Aleksandra Jezela-Stanek

Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders.

Genes
Avec: Udara D Senarathne , Neluwa-Liyanage R Indika , Aleksandra Jezela-Stanek , Elżbieta Ciara , Richard E Frye , Cliff Chen , Karolina M Stepien

Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease.

Nutrients
Avec: Dorota Wesół-Kucharska , Milena Greczan , Magdalena Kaczor , Ewa Ehmke Vel Emczyńska-Seliga , Małgorzata Hajdacka , Edyta Czekuć-Kryśkiewicz , Dorota Piekutowska-Abramczuk , Paulina Halat-Wolska , Elżbieta Ciara , Maciej Jaworski , Aleksandra Jezela-Stanek , Dariusz Rokicki

Beyond the lungs: Alpha-1 antitrypsin's potential role in human gestation.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University
Avec: Aleksandra Jezela-Stanek , Joanna Chorostowska-Wynimko

Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state-of-the art review.

The clinical respiratory journal
Avec: Aleksandra Jezela-Stanek , Joanna Chorostowska-Wynimko , Anna Tylki-Szymańska

Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases.

Journal of clinical medicine
Avec: Aleksandra Jezela-Stanek , Grazina Kleinotiene , Karolina Chwialkowska , Anna Tylki-Szymańska

The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant.

Children (Basel, Switzerland)
Avec: Justyna Paprocka , Aleksandra Jezela-Stanek , Łukasz Boguszewicz , Maria Sokół , Patryk Lipiński , Ewa Jamroz , Ewa Emich-Widera , Anna Tylki-Szymańska

Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients.

Journal of applied genetics
Avec: A Różdżyńska-Świątkowska , E Ciara , P Halat-Wolska , M Krajewska-Walasek , A Jezela-Stanek

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.

Orphanet journal of rare diseases
Avec: Anna Bogdańska , Patryk Lipiński , Paulina Szymańska-Rożek , Aleksandra Jezela-Stanek , Dariusz Rokicki , Piotr Socha , Anna Tylki-Szymańska

Post-Translational Modifications of Circulating Alpha-1-Antitrypsin Protein.

International journal of molecular sciences
Avec: Urszula Lechowicz , Stefan Rudzinski , Aleksandra Jezela-Stanek , Sabina Janciauskiene , Joanna Chorostowska-Wynimko

Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome - Literature Review.

Frontiers in genetics
Avec: Przemyslaw Kosinski , Milena Greczan , Aleksandra Jezela-Stanek

Possible effect of the HLA-DQ2/DQ8 polymorphism on autoimmune parameters and lymphocyte subpopulation in recurrent pregnancy losses.

Journal of reproductive immunology
Avec: Małgorzata Królik , Marta Wrześniak , Aleksandra Jezela-Stanek

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Lucy Loong , Agostina Tardivo , Alexej Knaus , Mona Hashim , Alistair T Pagnamenta , Kerstin Alt , Helena Böhrer-Rabel , Alfonso Caro-Llopis , Trevor Cole , Felix Distelmaier , Patrick Edery , Carlos R Ferreira , Aleksandra Jezela-Stanek , Bronwyn Kerr , Gerhard Kluger , Peter M Krawitz , Marius Kuhn , Johannes R Lemke , Gaetan Lesca , Sally Ann Lynch , Francisco Martinez , Caroline Maxton , Hanna Mierzewska , Sandra Monfort , Joost Nicolai , Carmen Orellana , Deb K Pal , Rafał Płoski , Oliver W Quarrell , Monica Rosello , Małgorzata Rydzanicz , Ataf Sabir , Robert Śmigiel , Alexander P A Stegmann , Helen Stewart , Constance Stumpel , Elżbieta Szczepanik , Andreas Tzschach , Lynne Wolfe , Jenny C Taylor , Yoshiko Murakami , Taroh Kinoshita , Allan Bayat , Usha Kini

IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB-Induced Inflammation.

Journal of clinical immunology
Avec: Ilona Gottschalk , Uwe Kölsch , Dimitrios L Wagner , Jonas Kath , Stefania Martini , Renate Krüger , Anne Puel , Jean-Laurent Casanova , Aleksandra Jezela-Stanek , Rainer Rossi , Salima El Chehadeh , Hilde Van Esch , Horst von Bernuth

Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme.

Genes
Avec: Aleksandra Jezela-Stanek , Lidia Suchoń , Agnieszka Sobczyńska-Tomaszewska , Kamila Czerska , Katarzyna Kuśmierska , Joanna Taybert , Mariusz Ołtarzewski , Jolanta Sykut-Cegielska

Genetic and molecular backgrounds of the development of glioblastoma

Postepy biochemii
Avec: Przemysław Panek , Aleksandra Jezela-Stanek

Réseau de co-auteurs

Anna Tylki-Szymańska 12 collaborations
Elżbieta Ciara 11 collaborations
Rafał Płoski 8 collaborations
Dariusz Rokicki 7 collaborations
Małgorzata Rydzanicz 7 collaborations
Hanna Mierzewska 6 collaborations
Alexej Knaus 6 collaborations
Joanna Chorostowska-Wynimko 5 collaborations
Justyna Paprocka 5 collaborations
Elżbieta Szczepanik 4 collaborations
Anna Bogdańska 4 collaborations
Milena Greczan 4 collaborations
Dorota Wesół-Kucharska 4 collaborations
Patryk Lipiński 4 collaborations
Maria Jędrzejowska 3 collaborations
Małgorzata Krajewska-Walasek 3 collaborations
Przemyslaw Kosinski 3 collaborations
Magdalena Kaczor 3 collaborations
Tahsin Stefan Barakat 3 collaborations
Karolina M Stepien 3 collaborations
Agnieszka Różdżyńska-Świątkowska 3 collaborations
Jolanta Sykut-Cegielska 3 collaborations
Allan Bayat 3 collaborations
Andreas Tzschach 3 collaborations
Gaetan Lesca 3 collaborations
Peter Krawitz 3 collaborations
Robert Śmigiel 3 collaborations
A Jezela-Stanek 2 collaborations
Piotr Gasperowicz 2 collaborations
Dorota Jurkiewicz 2 collaborations
Miroslaw Wielgos 2 collaborations
Karolina Mitusińska 2 collaborations
Hellen Lesmann 2 collaborations
Alexander Hustinx 2 collaborations
Shahida Moosa 2 collaborations
Elaine Marchi 2 collaborations
Jean Tori Pantel 2 collaborations
Hannah Klinkhammer 2 collaborations
Merle Ten Hagen 2 collaborations
Tom Kamphans 2 collaborations
Wolfgang Meiswinkel 2 collaborations
Jing-Mei Li 2 collaborations
Behnam Javanmardi 2 collaborations
Annette Uwineza 2 collaborations
Cordula Knopp 2 collaborations
Tinatin Tkemaladze 2 collaborations
Miriam Elbracht 2 collaborations
Larissa Mattern 2 collaborations
Rami Abou Jamra 2 collaborations
Clara Velmans 2 collaborations
Vincent Strehlow 2 collaborations
Himanshu Goel 2 collaborations
Thainá Vilella 2 collaborations
Amira Nabil 2 collaborations
Julia Suh 2 collaborations
Luisa Averdunk 2 collaborations
Ekanem Ekure 2 collaborations
Claudio Graziano 2 collaborations
Prasit Phowthongkum 2 collaborations
Nergis Güzel 2 collaborations
Theresa Brunet 2 collaborations
Sabine Rudnik-Schöneborn 2 collaborations
Konrad Platzer 2 collaborations
Artem Borovikov 2 collaborations
Franziska Schnabel 2 collaborations
Lara Heuft 2 collaborations
Vera Herrmann 2 collaborations
Matthias Höller 2 collaborations
Amal Mohamed 2 collaborations
Amaia Lasa-Aranzasti 2 collaborations
Ping Hu 2 collaborations
Gehad Elmakkawy 2 collaborations
Sylvia Safwat 2 collaborations
Frédéric Ebstein 2 collaborations
Elke Krüger 2 collaborations
Sébastien Küry 2 collaborations
Annabelle Arlt 2 collaborations
Felix Marbach 2 collaborations
Christian Netzer 2 collaborations
Sophia Kaptain 2 collaborations
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Paulina Halat-Wolska 2 collaborations
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Carlos R Ferreira 2 collaborations
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A Różdżyńska-Świątkowska 1 collaboration
E Ciara 1 collaboration
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M Krajewska-Walasek 1 collaboration
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