Julien Van-Gils - Centre de Référence des Anomalies du Développement Embryonnaire, Hôpital Pellegrin

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Diagnosis and Management in Rubinstein-Taybi Syndrome: First International Consensus Statement

Didier Lacombe,Agnès Bloch‐Zupan,Cecilie Bredrup, Edward H. Cooper,Sofia Douzgou, Sixto García‐Miñaúr, Hülya Kayserili, Lidia Larizza,Vanesa López González,Leonie A. Menke, Donatella Milani,Francesco Saettini, Cathy A. Stevens,Lloyd Tooke, Julie van der Zee,Maria van Genderen,Julien Van‐Gils,Jane Waite,Jean‐Louis Adrien, Oliver Bartsch,Pierre Bitoun,Antonia Bouts,Anna M. Cueto‐González,Elena Domínguez‐Garrido, Floor Duijkers, Patricia Fergelot,Elizabeth Halstead,Sylvia Huisman,Camilla Meossi, Jo Mullins,Sarah M. Nikkel,Chris Oliver,Elisabetta Prada, Alessandra Rei,Ilka Riddle,Cristina Rodriguez-Fonseca, Rebeca Rodríguez Pena, J. M. Russell, Alicia Saba,Fernando Santos‐Simarro,Brittany Simpson, David W. Smith,Markus F. Stevens,Katalin Szakszon,Emmanuelle Taupiac, Nadia Totaro,Irene Valenzuela,Daniëlle van der Kaay, Michiel P. van Wijk,Klea Vyshka,Susan Wiley, Raoul C. M. Hennekam

Journal of medical geneticsno. 6 (2024): 503-519

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Intriguing Link Between Fetal Intracranial Hemorrhage and X-linked Recessive Chondrodysplasia Punctata

P Létard, R Wintjens,J Van-Gils, J Martinovic, F Laffargue,F Dufernez,M Egloff

Ultrasound in obstetrics & gynecology the official journal of the International Society of Ultrasound in Obstetrics and Gynecologyno. 2 (2024): 259-261

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Clinico-biological Refinement of BCL11B-related Disorder and Identification of an Episignature: A Series of 20 Unreported Individuals

Quentin Sabbagh,Sadegheh Haghshenas,Juliette Piard,Chloe Trouve,Jeanne Amiel,Tania Attie-Bitach,Tugce Balci,Mouna Barat-Houari,Alyce Belonis,Odile Boute,Diana S. Brightman,Ange-Line Bruel,Stefano Giuseppe Caraffi,Nicolas Chatron,Corinne Collet,William Dufour,Patrick Edery,Chin-To Fong,Carlo Fusco,Vincent Gatinois,Evan Gouy,Anne-Marie Guerrot,Solveig Heide, Aakash Joshi,Natalya Karp,Boris Keren,Marion Lesieur-Sebellin,Jonathan Levy,Michael A. Levy,Claire Lozano,Stanislas Lyonnet,Henri Margot,Pauline Marzin,Haley Mcconkey,Vincent Michaud,Gael Nicolas, Mevyn Nizard, Alix Paulet,Francesca Peluso,Vincent Pernin,Laurence Perrin,Christophe Philippe,Chitra Prasad,Madhavi Prasad,Raissa Relator,Marlene Rio,Sophie Rondeau,Valentin Ruault,Nathalie Ruiz-Pallares,Elodie Sanchez,Debbie Shears,Victoria Mok Siu,Arthur Sorlin,Matthew Tedder,Mylene Tharreau,Frederic Tran Mau-Them,Liselot van der Laan,Julien Van Gils,Alain Verloes,Sandra Whalen,Marjolaine Willems,Kevin Yauy,Roberta Zuntini,Jennifer Kerkhof,Bekim Sadikovic,David Genevieve

Genetics in medicineno. 1 (2024): 101007-101007

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TRAPPC6B Biallelic Variants Cause a Neurodevelopmental Disorder with TRAPP II and Trafficking Disruptions

Hashem Almousa,Sara A. Lewis,Somayeh Bakhtiari, Sandra Hinz Nordlie,Alex Pagnozzi,Helen Magee,Stephanie Efthymiou,Jennifer A. Heim,Patricia Cornejo,Maha S. Zaki,Najwa Anwar,Shazia Maqbool,Fatima Rahman,Derek E. Neilson,Anusha Vemuri,Sheng Chih Jin,Xiao-Ru Yang,Abolfazl Heidari,Koen van Gassen,Aurelien Trimouille,Christel Thauvin-Robinet,James Liu,Ange-Line Bruel,Hoda Tomoum,Mennatallah O. Shata,Mais O. Hashem,Mehran Beiraghi Toosi,Ehsan Ghayoor Karimiani,Gozde Yesil,Lokesh Lingappa,Debangana Baruah,Farnoosh Ebrahimzadeh,Julien Van-Gils,Laurence Faivre,Mina Zamani,Hamid Galehdari,Saeid Sadeghian,Gholamreza Shariati, Rahema Mohammad,Jasper van der Smagt,Alya Qari,John B. Vincent,A. Micheil Innes,Ali Dursun,R. Koksal Ozgul,Halil Tuna Akar,Kaya Bilguvar,Cyril Mignot,Boris Keren, Claudia Raveli,Lydie Burglen,Alexandra Afenjar,Laura Donker Kaat,Marjon van Slegtenhorst,Fowzan Alkuraya,Henry Houlden,Sergio Padilla-Lopez,Reza Maroofian,Michael Sacher,Michael C. Kruer

BRAINno. 1 (2024): 311-324

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Care Pathways in Childhood Neurodevelopmental Disorders: Toward Greater Awareness of KBG Syndrome among Pediatricians

Marie Adamo-Croux, Adriane Auger-Gilli,Gwenael Le Guyader, Juliette Aubin-Courjault,Henri Margot,Claire Bar,Didier Lacombe,Julien Van-Gils,Marine Legendre, Xavier Le Guillou Horn

Archives de Pédiatrieno. 5 (2024): 320-325

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Variants in LRRC7 Lead to Intellectual Disability, Autism, Aggression and Abnormal Eating Behaviors

Jana Willim,Daniel Woike, Daniel Greene,Sarada Das,Kevin Pfeifer, Weimin Yuan,Anika Lindsey,Omar Itani, Amber L Böhme,Debora Tibbe,Hans-Hinrich Hönck,Fatemeh Hassani Nia,Undiagnosed Diseases Network,Michael Zech,Theresa Brunet,Laurence Faivre,Arthur Sorlin,Antonio Vitobello,Thomas Smol,Cindy Colson,Kristin Baranano, Krista Schatz, Allan Bayat,Kelly Schoch,Rebecca Spillmann,Erica E Davis,Erin Conboy,Francesco Vetrini,Konrad Platzer,Sonja Neuser,Janina Gburek-Augustat, Alexandra Noel Grace, Bailey Mitchell,Alexander Stegmann,Margje Sinnema,Naomi Meeks,Carol Saunders,Maxime Cadieux-Dion,Juliane Hoyer,Julien Van-Gils, Jean-Madeleine de Sainte-Agathe,Michelle L Thompson,E Martina Bebin,Monika Weisz-Hubshman,Anne-Claude Tabet,Alain Verloes,Jonathan Levy,Xenia Latypova,Sönke Harder,Gary A Silverman,Stephen C Pak, Tim Schedl, Kathleen Freson,Andrew Mumford,Ernest Turro,Christian Schlein,Vandana Shashi, Hans-Jürgen Kreienkamp

Nature Communicationsno. 1 (2024): 1-18

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Clinical Spectrum of Rare Bone Fragility Disorders and Response to Bisphosphonate Treatment: a Retrospective Study

Maelle Charpie,Perrine Brunelle,Genevieve Baujat,Caroline Michot,Julien Van Gils,Bruno Leheup,Elise Schaefer,Eugenie Koumakis,Zagorka Pejin,Graziella Pinto,Sophie Monnot,Valerie Cormier-Daire

EUROPEAN JOURNAL OF HUMAN GENETICS (2024)

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Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Didier Lacombe,Agnes Bloch-Zupan,Cecilie Bredrup,Edward B. Cooper,Sofia Douzgou Houge,Sixto Garcia-Minaur,Hulya Kayserili,Lidia Larizza,Vanesa Lopez Gonzalez,Leonie A. Menke,Donatella Milani,Francesco Saettini,Cathy A. Stevens,Lloyd Tooke, Jill A. van der Zee,Maria M. Van Genderen,Julien Van-Gils,Jane Waite,Jean-Louis Adrien,Oliver Bartsch,Pierre Bitoun,Antonia H. M. Bouts,Anna M. Cueto-Gonzalez,Elena Dominguez-Garrido,Floor A. Duijkers,Patricia Fergelot, Elisabeth Halstead,Sylvia A. Huisman,Camilla Meossi, Jo Mullins,Sarah M. Nikkel,Chris Oliver,Elisabetta Prada, Alessandra Rei,Ilka Riddle,Cristina Rodriguez-Fonseca, Rebecca Rodriguez Pena, Janet Russell, Alicia Saba,Fernando Santos-Simarro,Brittany N. Simpson,David F. Smith,Markus F. Stevens,Katalin Szakszon,Emmanuelle Taupiac, Nadia Totaro, Irene Valenzuena Palafoll, Danielle C. M. van der Kaay, Michiel P. Van Wijk,Klea Vyshka,Susan Wiley,Raoul C. Hennekam

JOURNAL OF MEDICAL GENETICS（2024）

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Autoimmune Cytopenia and Kabuki Syndrome in Paediatrics: Insights in 11 Patients

Chloe Bianchi,Henri Margot,Helder Fernandes,Marlene Pasquet, Laurence Priqueler,Frederique Roy-Peaud,Frederic Bauduer,Sophie Bayart,Nathalie Garnier,Olivier Fain,Julien Van Gils, Sandrine Baron Joly,Fanny Rialland,Catherine Paillard,Marianna Deparis,Anne Lambilliotte,Thierry Leblanc,Mony Fahd,Guy Leverger,Sebastien Heritier,David Genevieve,Frederic Rieux-Laucat,Capucine Picard, Caroline Neyraud,Nathalie Aladjidi

BRITISH JOURNAL OF HAEMATOLOGYno. 5 (2024): 1899-1907

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Working Towards the ERN ITHACA International Consensus Statement on the Diagnosis and Management in Rubinstein-Taybi Syndrome

Didier Lacombe,Agnes Bloch-Zupan,Cecilie Bredrup, Edward Cooper,Sofia Douzgou Houge,Sixto Garcia-Minaur,Hulya Kayserili,Lidia Larizza,Vanesa Lopez Gonzalez,Leonie Menke,Donatella Milani,Francesco Saettini,Cathy Stevens,Lloyd Tooke, Jill van der Zee,Maria van Genderen,Julien Van Gils,Jane Waite,Jean-Louis Adrien,Oliver Bartsch,Pierre Bitoun,Antonia Bouts,Anna Maria Cueto-Gonzalez,Elena Dominguez-Garrido,Floor Duijkers,Patricia Fergelot,Elizabeth Halstead,Sylvia Huisman,Camilla Meossi, Jo Mullins,Sarah Nikkel,Chris Oliver,Elisabetta Prada,Ilka Riddle,Cristina Rodriguez-Fonseca, Rebecca Rodriguez Pena, Janet Dell'Oro Russell, Alicia Saba,Fernando Santos,Brittany Simpson,David Smith,Markus Stevens,Katalin Szakszon,Emmanuelle Taupiac,Irene Valenzuela Palafoll,Danielle van der Kaay,Michiel van Wijk,Klea Vyshka,Susan Wiley,Raoul Hennekam

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 740-742

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