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Human Mutation|July 16, 2015
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan SyndromeViviana Cordeddu, Jiani C Yin, Cecilia Gunnarsson, et al.
American Journal of Medical Genetics. Part A|September 9, 2016
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11Alice Goldenberg, Florence Riccardi, Aude Tessier, et al.
Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology|March 30, 2021
A normative chart for cognitive development in a genetically selected populationAnia M Fiksinski, Carrie E Bearden, Anne S Bassett, et al.
The Journal of Pediatrics|March 29, 2013
Clinical and molecular spectrum of renal malformations in Kabuki syndromeJean-Benoît Courcet, Laurence Faivre, Caroline Michot, et al.
European Journal of Medical Genetics|August 13, 2013
Finger creases lend a hand in Kabuki syndromeCaroline Michot, Carole Corsini, Damien Sanlaville, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 28, 2017
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndromeMarine Legendre, Véronique Abadie, Tania Attié-Bitach, et al.
Human Genetics|September 1, 2018
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)Nuria C Bramswig, Aida M Bertoli-Avella, Beate Albrecht, et al.
Nature Medicine|November 10, 2020
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndromeRobert W Davies, Ania M Fiksinski, Elemi J Breetvelt, et al.
Nature Communications|November 21, 2024
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairmentAndrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie, et al.
American Journal of Medical Genetics. Part A|October 6, 2018
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjectsYingjie Zhao, Tingwei Guo, Ania Fiksinski, et al.
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