Showing results (51-60 of 114) with videos related to
Sort By:
Pageof 12
European Journal of Human Genetics : EJHG|June 15, 2017
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?Jessica Le Gall, Mathilde Nizon, Olivier Pichon, et al.American Journal of Medical Genetics. Part A|September 23, 2023
Growth charts in DYRK1A syndromePierre-Louis Lanvin, Thomas Goronflot, Bertrand Isidor, et al.Human Genetics|July 6, 2018
Expanding the phenotype of the X-linked BCOR microphthalmia syndromesNicola Ragge, Bertrand Isidor, Pierre Bitoun, et al.Journal of Inherited Metabolic Disease|March 18, 2021
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypesHind Alsharhan, Miao He, Andrew C Edmondson, et al.American Journal of Human Genetics|August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveMari J Tokita, Alicia A Braxton, Yunru Shao, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2019
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4Elodie Sanchez, Béryl Laplace-Builhé, Frédéric Tran Mau-Them, et al.The Journal of Investigative Dermatology|December 25, 2022
PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to MelanomaSatyamaanasa Polubothu, Nicole Bender, Siobhan Muthiah, et al.Journal of Medical Genetics|February 24, 2026
Phenotypic description of a large French series of individuals with Potocki-Lupski syndromeAlicia Coudert, Pauline Le Tanno, William Dufour, et al.American Journal of Medical Genetics. Part A|November 21, 2025
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent DysmorphismsAlessandro De Falco, Marie Vincent, Gaëlle Vieville, et al.American Journal of Medical Genetics. Part A|February 29, 2024
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delayThoa Ha, Angela Morgan, Meghan N Bartos, et al.Pageof 12