Showing results (21-30 of 46) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part A|September 12, 2025
De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental DisorderSamuel M Bradbrook, Gail Graham, Melissa T Carter, et al.
American Journal of Human Genetics|September 23, 2025
Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disordersJohnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, et al.
Frontiers in Genetics|May 26, 2026
Evaluation of the contribution of trio-exome sequencing in selected prenatal indicationsManon Chretien, Julien Osouf, Carine Abel, et al.
Brain : a Journal of Neurology|June 26, 2026
RBMX functional retrocopy safeguards brain development in a species-dependent contextPierre Tilliole, Carolin Mattausch, Peggy Tilly, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 18, 2022
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signalingAlexander M Holtz, Rachel VanCoillie, Elizabeth A Vansickle, et al.
NPJ Parkinson'S Disease|March 30, 2024
Genotype-phenotype correlation in PRKN-associated Parkinson's diseasePoornima Jayadev Menon, Sara Sambin, Baptiste Criniere-Boizet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2019
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literatureErin Torti, Boris Keren, Elizabeth E Palmer, et al.
European Journal of Human Genetics : EJHG|February 6, 2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variantMio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, et al.
Genome Medicine|October 4, 2025
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG studySalima El Chehadeh, Solveig Heide, Chloé Quélin, et al.
Genome Medicine|June 13, 2022
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndromeMargot A Cousin, Emma L Veale, Nikita R Dsouza, et al.
Pageof 5