Sander Stegmann - Medical Center+, Maastricht University

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Papers共 7 篇Author StatisticsCo-AuthorSimilar Experts

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Identification of clinically relevant variants in homologous regions in 41,755 exomes

Wouter Steyaert,Marloes Steehouwer,Lonneke Haer-Wigman,Rolph Pfundt,Sander Stegmann,Elke de Boer,Helger Yntema,Han Brunner,Alexander Hoischen,Christian Gilissen

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 603-603

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Deep Phenotyping of the Neuroimaging and Skeletal Features in KBG Syndrome: a Study of 53 Patients and Review of the Literature

Francesca Peluso,Stefano G. Caraffi,Gianluca Contro,Lara Valeri,Manuela Napoli, Giorgia Carboni,Alka Seth,Roberta Zuntini,Emanuele Coccia,Guja Astrea,Anne-Marie Bisgaard,Ivan Ivanovski,Silvia Maitz,Elise Brischoux-Boucher,Melissa T. Carter,Maria Lisa Dentici,Koenraad Devriendt,Melissa Bellini,Maria Cristina Digilio,Asif Doja,David A. Dyment,Stense Farholt,Carlos R. Ferreira,Lynne A. Wolfe,William A. Gahl,Maria Gnazzo,Himanshu Goel,Sabine Weller Gronborg,Trine Hammer,Lorenzo Iughetti,Tjitske Kleefstra,David A. Koolen,Francesca Romana Lepri,Gabrielle Lemire,Pedro Louro,Gary McCullagh,Simona F. Madeo,Annarita Milone,Roberta Milone,Jens Erik Klint Nielsen,Antonio Novelli,Charlotte W. Ockeloen,Rosario Pascarella,Tommaso Pippucci,Ivana Ricca,Stephen P. Robertson,Sarah Sawyer,Marie Falkenberg Smeland,Sander Stegmann,Constanze T. Stumpel,Amy Goel,Juliet M. Taylor,Domenico Barbuti,Annarosa Soresina,Maria Francesca Bedeschi,Roberta Battini,Anna Cavalli,Carlo Fusco,Maria Iascone,Lionel Van Maldergem,Sunita Venkateswaran,Orsetta Zuffardi,Samantha Vergano,Livia Garavelli,Allan Bayat

JOURNAL OF MEDICAL GENETICS（2023）

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TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

American journal of human geneticsno. 6 (2015): 922-932

Cited94Views0WOSBibtex

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