M Seri

Marco Seri 29 collaborations

Tommaso Pippucci 9 collaborations

Pamela Magini 7 collaborations

Flavia Palombo 5 collaborations

Mirko Seri 4 collaborations

Antonio Novelli 4 collaborations

Andrea Ciolfi 3 collaborations

Giuseppe Zampino 3 collaborations

Cesare Rossi 3 collaborations

Marco Tartaglia 3 collaborations

Flavio Faletra 3 collaborations

Valerio Carelli 3 collaborations

Caterina Marconi 3 collaborations

Francesca Clementina Radio 2 collaborations

Alessandro Bruselles 2 collaborations

Simone Pizzi 2 collaborations

Ingrid M Wentzensen 2 collaborations

Bruno Dallapiccola 2 collaborations

Emanuele Panza 2 collaborations

Giovanna Sartor 2 collaborations

Franco Dinelli 2 collaborations

Lina Basel-Salmon 2 collaborations

Giovanni Vitale 2 collaborations

Alessandro Mattiaccio 2 collaborations

Amalia Conti 2 collaborations

Laura Turco 2 collaborations

Maria Cristina Morelli 2 collaborations

Maria Chiara Baroni 2 collaborations

Elena Bonora 2 collaborations

Tamara Posati 2 collaborations

Roberto Zamboni 2 collaborations

Giovanna Sotgiu 2 collaborations

None None 2 collaborations

Francesca Montanari 2 collaborations

Maria Cristina Digilio 2 collaborations

Paolo Prontera 2 collaborations

Maria Iascone 2 collaborations

Nicola Brunetti-Pierri 2 collaborations

Raffaella Minardi 2 collaborations

Laura Licchetta 2 collaborations

Paolo Tinuper 2 collaborations

Francesca Bisulli 2 collaborations

Marialetizia Motta 1 collaboration

Luca Pannone 1 collaboration

Francesca Pantaleoni 1 collaboration

Gianfranco Bocchinfuso 1 collaboration

Serena Cecchetti 1 collaboration

Martina Di Rocco 1 collaboration

Mariet W Elting 1 collaboration

Eva H Brilstra 1 collaboration

Stefania Boni 1 collaboration

Laura Mazzanti 1 collaboration

Federica Tamburrino 1 collaboration

Larry Walsh 1 collaboration

Katelyn Payne 1 collaboration

Alberto Fernández-Jaén 1 collaboration

Mythily Ganapathi 1 collaboration

Wendy K Chung 1 collaboration

Dorothy K Grange 1 collaboration

Ashita Dave-Wala 1 collaboration

Shalini C Reshmi 1 collaboration

Dennis W Bartholomew 1 collaboration

Danielle Mouhlas 1 collaboration

Giovanna Carpentieri 1 collaboration

Emanuele Bellacchio 1 collaboration

Francesca Piceci-Sparascio 1 collaboration

Christina Lißewski 1 collaboration

Julia Brinkmann 1 collaboration

Ronald R Waclaw 1 collaboration

Quinten Waisfisz 1 collaboration

Koen van Gassen 1 collaboration

Michelle M Morrow 1 collaboration

Sara Álvarez 1 collaboration

Mónica Martínez-García 1 collaboration

Alessandro De Luca 1 collaboration

Luigi Memo 1 collaboration

Bruce D Gelb 1 collaboration

Martin Zenker 1 collaboration

Lorenzo Stella 1 collaboration

Carlos E Prada 1 collaboration

Simone Martinelli 1 collaboration

Elisabetta Flex 1 collaboration

Stefania Lenarduzzi 1 collaboration

Anna Morgan 1 collaboration

Stefania Cappellani 1 collaboration

Marcello Morgutti 1 collaboration

Massimo Mezzavilla 1 collaboration

Adelaide Peruzzi 1 collaboration

Sara Ghiselli 1 collaboration

Umberto Ambrosetti 1 collaboration

Claudio Graziano 1 collaboration

Paolo Gasparini 1 collaboration

Giorgia Girotto 1 collaboration

Diego Martinelli 1 collaboration

Carlo Dionisi Vici 1 collaboration

Gloria Negri 1 collaboration

Donatella Milani 1 collaboration

Milena Crippa 1 collaboration

Elisa Biamino 1 collaboration

Maria Piccione 1 collaboration

Stefano Sotgiu 1 collaboration

Chiara Perrìa 1 collaboration

Giuseppina Vitiello 1 collaboration

Marina Frontali 1 collaboration

Antonella Boni 1 collaboration

Elisabetta Di Fede 1 collaboration

Maria Chiara Gandini 1 collaboration

Elisa Adele Colombo 1 collaboration

Michael J Bamshad 1 collaboration

Deborah A Nickerson 1 collaboration

Joshua D Smith 1 collaboration

Italia Loddo 1 collaboration

Palma Finelli 1 collaboration

Lidia Larizza 1 collaboration

Cristina Gervasini 1 collaboration

Daniele Zama 1 collaboration

Francesca Conti 1 collaboration

Mattia Moratti 1 collaboration

Maria E Cantarini 1 collaboration

Elena Facchini 1 collaboration

Beatrice Rivalta 1 collaboration

Roberto Rondelli 1 collaboration

Arcangelo Prete 1 collaboration

Simona Ferrari 1 collaboration

Andrea Pession 1 collaboration

Manar Aoun 1 collaboration

Ilaria Passerini 1 collaboration

Pietro Chiurazzi 1 collaboration

Marianthi Karali 1 collaboration

Irene De Rienzo 1 collaboration

Vittoria Murro 1 collaboration

Natalia Filimonova 1 collaboration

Sandro Banfi 1 collaboration

Carlo Barone 1 collaboration

Piera Maccagnani 1 collaboration

Monica Bertoldo 1 collaboration

Raffaella Capelli 1 collaboration

Massimo Cocchi 1 collaboration

Sergio Pagano 1 collaboration

Sabrina Berti 1 collaboration

Elena Luppi 1 collaboration

Guido Zavatta 1 collaboration

Aasem Abu Shtaya 1 collaboration

Inbal Kedar 1 collaboration

Samar Mattar 1 collaboration

Ahmad Mahamid 1 collaboration

Sarit Farage Barhom 1 collaboration

Sofia Naftaly Nathan 1 collaboration

Nurit Magal 1 collaboration

Noy Azulay 1 collaboration

Michal Levy Zalcberg 1 collaboration

Rakefet Chen-Shtoyerman 1 collaboration

Ori Segol 1 collaboration

Mor Seri 1 collaboration

Gili Reznick Levi 1 collaboration

Shiri Shkedi-Rafid 1 collaboration

Chana Vinkler 1 collaboration

Iris Netzer 1 collaboration

Ofir Hagari Bechar 1 collaboration

Liat Chamma 1 collaboration

Sari Liberman 1 collaboration

Yael Goldberg 1 collaboration

Fabio Piscaglia 1 collaboration

Gianfranco Vornetti 1 collaboration

Sara Rosa Maria De Martino 1 collaboration

Elisabetta Mariucci 1 collaboration

Andrea Donti 1 collaboration

Caterina Tonon 1 collaboration

Raffaele Lodi 1 collaboration

Luca Spinardi 1 collaboration

L Ferri 1 collaboration

V Menghi 1 collaboration

L Licchetta 1 collaboration

P Dimartino 1 collaboration

R Minardi 1 collaboration

C Davì 1 collaboration

L Di Vito 1 collaboration

E Cifaldi 1 collaboration

C Zenesini 1 collaboration

F Gozzo 1 collaboration

V Pelliccia 1 collaboration

V Mariani 1 collaboration

Y C C de Spelorzi 1 collaboration

S Gustincich 1 collaboration

L Tassi 1 collaboration

T Pippucci 1 collaboration

F Bisulli 1 collaboration

Cristiano Albonetti 1 collaboration

Riva Alkarsifi 1 collaboration

Virginie El Qacemi 1 collaboration

Benjamin Dhuiege 1 collaboration

Giampiero Ruani 1 collaboration

Maria Chiara Pelleri 1 collaboration

Elena Cicchini 1 collaboration

Michael B Petersen 1 collaboration

Lisbeth Tranebjaerg 1 collaboration

Teresa Mattina 1 collaboration

Francesca Antonaros 1 collaboration

Maria Caracausi 1 collaboration

Lorenza Vitale 1 collaboration

Chiara Locatelli 1 collaboration

Pierluigi Strippoli 1 collaboration

Allison Piovesan 1 collaboration

Guido Cocchi 1 collaboration

Tamar Harel 1 collaboration

John N Griffin 1 collaboration

Thomas Arbogast 1 collaboration

Tanner O Monroe 1 collaboration

Marcella Martinelli 1 collaboration

Orly Elpeleg 1 collaboration

Nicholas Katsanis 1 collaboration

Federica Isidori 1 collaboration

Isotta Bozzarelli 1 collaboration

Luca Mastracci 1 collaboration

Deborah Malvi 1 collaboration

Marialuisa Lugaresi 1 collaboration

Chiara Molinari 1 collaboration

Henna Söderström 1 collaboration

Jari Räsänen 1 collaboration

Antonia D'Errico 1 collaboration

Roberto Fiocca 1 collaboration

Kausilia K Krishnadath 1 collaboration

Sandro Mattioli 1 collaboration

Cinzia Cameli 1 collaboration

Marta Viggiano 1 collaboration

Magali J Rochat 1 collaboration

Alessandra Maresca 1 collaboration

Leonardo Caporali 1 collaboration

Claudio Fiorini 1 collaboration

Renée C Duardo 1 collaboration

Fabiola Ceroni 1 collaboration

Maria C Scaduto 1 collaboration

Annio Posar 1 collaboration

Paola Visconti 1 collaboration

Elena Bacchelli 1 collaboration

Elena Maestrini 1 collaboration

Maria A Pantaleo 1 collaboration

Milena Urbini 1 collaboration

Angela Schipani 1 collaboration

Margherita Nannini 1 collaboration

Valentina Indio 1 collaboration

Antonio De Leo 1 collaboration

Bruno Vincenzi 1 collaboration

Antonella Brunello 1 collaboration

Giovanni Grignani 1 collaboration

Mariaelena Casagrande 1 collaboration

Elena Fumagalli 1 collaboration

Elena Conca 1 collaboration

Maristella Saponara 1 collaboration

Elisa Gruppioni 1 collaboration

Annalisa Altimari 1 collaboration

Dario De Biase 1 collaboration

Giovanni Tallini 1 collaboration

Gloria Ravegnini 1 collaboration

Daniela Turchetti 1 collaboration

Andrea Ardizzoni 1 collaboration

Paola Secchiero 1 collaboration

Annalisa Astolfi 1 collaboration

Sonia Berardi 1 collaboration

Vittoria Vero 1 collaboration

Michele Modestino 1 collaboration

Armando Galluzzi 1 collaboration

Massimiliano Polichetti 1 collaboration

Elisa Benetti 1 collaboration

Rossella Tita 1 collaboration

Ottavia Spiga 1 collaboration

Giovanni Birolo 1 collaboration

Gabriella Doddato 1 collaboration

Annarita Giliberti 1 collaboration

Francesco Musacchia 1 collaboration

Annalaura Torella 1 collaboration

Alfonso Trezza 1 collaboration

Floriana Valentino 1 collaboration

Margherita Baldassarri 1 collaboration

Alfredo Brusco 1 collaboration

Rosanna Asselta 1 collaboration

Mirella Bruttini 1 collaboration

Simone Furini 1 collaboration

Vincenzo Nigro 1 collaboration

Giuseppe Matullo 1 collaboration

Francesca Mari 1 collaboration

Alessandra Renieri 1 collaboration

Anna Maria Pinto 1 collaboration

Sara Cuvertino 1 collaboration

Verity Hartill 1 collaboration

Alice Colyer 1 collaboration

Terence Garner 1 collaboration

Nisha Nair 1 collaboration

Lihadh Al-Gazali 1 collaboration

Natalie Canham 1 collaboration

Victor Faundes 1 collaboration

Frances Flinter 1 collaboration

Jozef Hertecant 1 collaboration

Muriel Holder-Espinasse 1 collaboration

Brian Jackson 1 collaboration

Sally Ann Lynch 1 collaboration

Fatima Nadat 1 collaboration

Vagheesh M Narasimhan 1 collaboration

Michelle Peckham 1 collaboration

Robert Sellers 1 collaboration

Laura Southgate 1 collaboration

Gabriella Maria Squeo 1 collaboration

Richard Trembath 1 collaboration

David van Heel 1 collaboration

Santina Venuto 1 collaboration

Daniel Weisberg 1 collaboration

Karen Stals 1 collaboration

Sian Ellard 1 collaboration

Anne Barton 1 collaboration

Susan J Kimber 1 collaboration

Eamonn Sheridan 1 collaboration

Giuseppe Merla 1 collaboration

Adam Stevens 1 collaboration

Colin A Johnson 1 collaboration

Siddharth Banka 1 collaboration

Marta Gambucci 1 collaboration

Annalisa Aluigi 1 collaboration

Giulia Zampini 1 collaboration

Anna Donnadio 1 collaboration

Armida Torreggiani 1 collaboration

Loredana Latterini 1 collaboration

Clara Marco-Marín 1 collaboration

Juan M Escamilla-Honrubia 1 collaboration

José L Llácer 1 collaboration

Vicente Rubio 1 collaboration

Chiara Diquigiovanni 1 collaboration

Christian Bergamini 1 collaboration

Rebeca Diaz 1 collaboration

Irene Liparulo 1 collaboration

Francesca Bianco 1 collaboration

Luca Masin 1 collaboration

Vito Antonio Baldassarro 1 collaboration

Nicola Rizzardi 1 collaboration

Antonia Tranchina 1 collaboration

Francesco Buscherini 1 collaboration

Anita Wischmeijer 1 collaboration

Emanuela Scarano 1 collaboration

Duccio Maria Cordelli 1 collaboration

Romana Fato 1 collaboration

Silvia Paracchini 1 collaboration

Maria Giovanna Tedesco 1 collaboration

Fortunato Lonardo 1 collaboration

Caterina Ceccarini 1 collaboration

Carla Cesarano 1 collaboration

Monia Magliozzi 1 collaboration

Daniela Rogaia 1 collaboration

Amedea Mencarelli 1 collaboration

Chiara Leoni 1 collaboration

Carmelo Piscopo 1 collaboration

Valentina Imperatore 1 collaboration

Maria Teresa Falco 1 collaboration

Paolo Fontana 1 collaboration

Anna Maria Nardone 1 collaboration

Stefania Troiani 1 collaboration

Marco Ferilli 1 collaboration

Lucia Pedace 1 collaboration

Marcello Niceta 1 collaboration

Evelina Miele 1 collaboration

Camilla Cappelletti 1 collaboration

Cecilia Mancini 1 collaboration

Tiziana Galluccio 1 collaboration

Marco Andreani 1 collaboration

Luigi Chiriatti 1 collaboration

Alessia Micalizzi 1 collaboration

Marta Matraxia 1 collaboration

Lucia Menale 1 collaboration

Alba Pilotta 1 collaboration

Maria Francesca Bedeschi 1 collaboration

Rossella Capolino 1 collaboration

Anwar Baban 1 collaboration

Corrado Mammì 1 collaboration

Manuela Priolo 1 collaboration

Nicole Tabarini 1 collaboration

Elena Biagi 1 collaboration

Paolo Uva 1 collaboration

Emanuela Iovino 1 collaboration

Andrea Cavalli 1 collaboration

Isabella Ceccherini 1 collaboration

Marta Rusmini 1 collaboration

Federica Viti 1 collaboration

Alessandro Pecci 1 collaboration

Federica Melazzini 1 collaboration

Roberta Bottega 1 collaboration

Elena Nardi 1 collaboration

Valeria Bozzi 1 collaboration

Michela Faleschini 1 collaboration

Serena Barozzi 1 collaboration

Tania Giangregorio 1 collaboration

Carlo L Balduini 1 collaboration

Anna Savoia 1 collaboration

Patrizia Noris 1 collaboration

Elke Bogaert 1 collaboration

Aurore Garde 1 collaboration

Thierry Gautier 1 collaboration

Kathleen Rooney 1 collaboration

Yannis Duffourd 1 collaboration

Pontus LeBlanc 1 collaboration

Emma van Reempts 1 collaboration

Frederic Tran Mau-Them 1 collaboration

Kit Sing Au 1 collaboration

Kate Richardson 1 collaboration

Hope Northrup 1 collaboration

Vincent Gatinois 1 collaboration

David Geneviève 1 collaboration

Raymond J Louie 1 collaboration

Michael J Lyons 1 collaboration

Lone Walentin Laulund 1 collaboration

Charlotte Brasch-Andersen 1 collaboration

Trine Maxel Juul 1 collaboration

Fatima El It 1 collaboration

Nathalie Marle 1 collaboration

Patrick Callier 1 collaboration

Raissa Relator 1 collaboration

Sadegheh Haghshenas 1 collaboration

Haley McConkey 1 collaboration

Jennifer Kerkhof 1 collaboration

Claudia Cesario 1 collaboration

Michele Pinelli 1 collaboration

Perrine Pennamen 1 collaboration

Sophie Naudion 1 collaboration

Marine Legendre 1 collaboration

Cécile Courdier 1 collaboration

Aurelien Trimouille 1 collaboration

Martine Doco Fenzy 1 collaboration

Lynn Pais 1 collaboration

Alison Yeung 1 collaboration

Kimberly Nugent 1 collaboration

Elizabeth R Roeder 1 collaboration

Tadahiro Mitani 1 collaboration

Jennifer E Posey 1 collaboration

Daniel Calame 1 collaboration

Hagith Yonath 1 collaboration

Jill A Rosenfeld 1 collaboration

Luciana Musante 1 collaboration

Alessandra Vancini 1 collaboration

Claude Besmond 1 collaboration

Karine Poirier 1 collaboration

Laurence Hubert 1 collaboration

Dimitri Hemelsoet 1 collaboration

Arnold Munnich 1 collaboration

James R Lupski 1 collaboration

Christophe Philippe 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Laurence Faivre 1 collaboration

Bekim Sadikovic 1 collaboration

Jérôme Govin 1 collaboration

Bart Dermaut 1 collaboration

Antonio Vitobello 1 collaboration

Eleanor G Seaby 1 collaboration

Annie Godwin 1 collaboration

Géraldine Meyer-Dilhet 1 collaboration

Valentine Clerc 1 collaboration

Xavier Grand 1 collaboration

Tia Fletcher 1 collaboration

Laloe Monteiro 1 collaboration

Martijn Kerkhofs 1 collaboration

Giulia Olivucci 1 collaboration

Mina Grippa 1 collaboration

Claudia Ciaccio 1 collaboration

Stefano D'Arrigo 1 collaboration

Marion Bermudez 1 collaboration

Jan Fischer 1 collaboration

Nataliya Di Donato 1 collaboration

Sophie Goesswein 1 collaboration

Marco L Leung 1 collaboration

Daniel C Koboldt 1 collaboration

Cortlandt Myers 1 collaboration

Gudny Anna Arnadottir 1 collaboration

Kari Stefansson 1 collaboration

Patrick Sulem 1 collaboration

Ethan M Goldberg 1 collaboration

Ange-Line Bruel 1 collaboration

Frederic Tran Mau Them 1 collaboration

Marjolaine Willems 1 collaboration

Hans Tomas Bjornsson 1 collaboration

Hakon Bjorn Hognason 1 collaboration

Eirny Tholl Thorolfsdottir 1 collaboration

Emanuele Agolini 1 collaboration

Roberta Onesimo 1 collaboration

Katherine Lachlan 1 collaboration

Diana Baralle 1 collaboration

Heidi L Rehm 1 collaboration

Anne O'Donnell-Luria 1 collaboration

Julien Courchet 1 collaboration

Matt Guille 1 collaboration

Cyril F Bourgeois 1 collaboration

Sarah Ennis 1 collaboration

Carlotta Stipa 1 collaboration

Barbara Mostacci 1 collaboration

Giulia Severi 1 collaboration

Francesco Toni 1 collaboration

Luca Bergonzini 1 collaboration

Maddalena Graziosi 1 collaboration

Ornella Leone 1 collaboration

Alberto Foà 1 collaboration

Valentina Agostini 1 collaboration

Raffaello Ditaranto 1 collaboration

Marco Foroni 1 collaboration

Luigi Lovato 1 collaboration

Claudio Rapezzi 1 collaboration

Paola Dimartino 1 collaboration

Valeria Mariani 1 collaboration

Manuela Bramerio 1 collaboration

Veronica Menghi 1 collaboration

Luca Morandi 1 collaboration

Patrizia Mongelli 1 collaboration

Francesco Cardinale 1 collaboration

Laura Tassi 1 collaboration

Daphne J Smits 1 collaboration

Laura Vandervore 1 collaboration

Rachel Schot 1 collaboration

Marta Columbaro 1 collaboration

Esmee Kasteleijn 1 collaboration

Mees van der Ent 1 collaboration

Maarten H Lequin 1 collaboration

Marjolein Dremmen 1 collaboration

Marie Claire Y de Wit 1 collaboration

Mariasavina Severino 1 collaboration

Maria Teresa Divizia 1 collaboration

Pasquale Striano 1 collaboration

Natalia Ordonez-Herrera 1 collaboration

Amal Alhashem 1 collaboration

Ahmed Al Fares 1 collaboration

Malak Al Ghamdi 1 collaboration

Arndt Rolfs 1 collaboration

Peter Bauer 1 collaboration

Jeroen Demmers 1 collaboration

Frans W Verheijen 1 collaboration

Martina Wilke 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Peter J van der Spek 1 collaboration

Anna C Jansen 1 collaboration

Rolf W Stottmann 1 collaboration

Robert B Hufnagel 1 collaboration

Robert J Hopkin 1 collaboration

Deema Aljeaid 1 collaboration

Wojciech Wiszniewski 1 collaboration

Pawel Gawlinski 1 collaboration

Milena Laure-Kamionowska 1 collaboration

Fowzan S Alkuraya 1 collaboration

Hanah Akleh 1 collaboration

Valentina Stanley 1 collaboration

Damir Musaev 1 collaboration

Joseph G Gleeson 1 collaboration

Maha S Zaki 1 collaboration

Gerarda Cappuccio 1 collaboration

Bella Davidov 1 collaboration

Lily Bazak 1 collaboration

Noa Ruhrman Shahar 1 collaboration

Aida Bertoli-Avella 1 collaboration

Ghayda M Mirzaa 1 collaboration

William B Dobyns 1 collaboration

Maarten Fornerod 1 collaboration

Grazia M S Mancini 1 collaboration

I Capelli 1 collaboration

M Zoli 1 collaboration

M Righini 1 collaboration

L Faccioli 1 collaboration

V Aiello 1 collaboration

L Spinardi 1 collaboration

D Gori 1 collaboration

F Friso 1 collaboration

A Rustici 1 collaboration

C Bortolotti 1 collaboration

C Graziano 1 collaboration

V Mantovani 1 collaboration

N Sciascia 1 collaboration

D Mazzatenta 1 collaboration

M Pastore Trossello 1 collaboration

G La Manna 1 collaboration

Affiliations

Publications (36)

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.

Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss.

Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism.

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.

Immune cytopenias as a continuum in inborn errors of immunity: An in-depth clinical and immunological exploration.

Inherited Retinal Diseases Due to

Electrical conduction and noise spectroscopy of sodium-alginate gold-covered ultrathin films for flexible green electronics.

A New COL1A1 Mutation Associated With Type I Osteogenesis Imperfecta: Treatment Options for a Woman of Childbearing Age.

The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.

Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature.

Prevalence of unruptured intracranial aneurysms in patients with Marfan syndrome: A cross-sectional study and meta-analysis.

Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies.

Recycled or Bio-Based Solvents for the Synthesis of ZnO Nanoparticles: Characterization and Validation in Organic Solar Cells.

Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21.

Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.

Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations.

An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.

Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis.

Magnetic Analysis of MgFe Hydrotalcites as Powder and Dispersed in Thin Films within a Keratin Matrix.

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population.

Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

Effect of Chemically Engineered Au/Ag Nanorods on the Optical and Mechanical Properties of Keratin Based Films.

Δ

A novel mutation in

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.

Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying

Exploration of Tools for the Interpretation of Human Non-Coding Variants.

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.

Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.

Postmortem diagnosis of left dominant arrhythmogenic cardiomyopathy: the importance of a multidisciplinary network for sudden death victims. "HIC mors gaudet succurere vitae".

Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

MR Brain Screening in ADPKD Patients : To Screen or not to Screen?

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