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Cold Spring Harbor Molecular Case Studies|September 15, 2016
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotoniaAbby M Moskowitz, Newell Belnap, Ashley L Siniard, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 6, 2018
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in MiceIsabelle Schrauwen, Arnaud Pj Giese, Abdul Aziz, et al.Human Mutation|April 13, 2016
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification SystemManou Sommen, Isabelle Schrauwen, Geert Vandeweyer, et al.HGG Advances|April 11, 2026
Heterozygous CECR2 Variants Support a Distinct Neurodevelopmental Syndrome with Features Overlapping Cat Eye SyndromeAnushree Acharya, Irma Järvelä, Andrea Hernandez, et al.HGG Advances|December 12, 2024
Whole-exome sequencing reveals known and candidate genes for hearing impairment in MaliAbdoulaye Yalcouyé, Isabelle Schrauwen, Oumou Traoré, et al.Genes|May 28, 2022
<i>SCN1A</i> Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian FamiliesDiana M Cornejo-Sanchez, Anushree Acharya, Thashi Bharadwaj, et al.American Journal of Medical Genetics. Part A|August 31, 2018
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotypeChris Balak, Newell Belnap, Keri Ramsey, et al.Human Molecular Genetics|June 26, 2007
The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populationsMelissa Thys, Isabelle Schrauwen, Kathleen Vanderstraeten, et al.Epigenomics|October 3, 2017
Exploring genome-wide DNA methylation patterns in Aicardi syndromeIgnazio S Piras, Gabrielle Mills, Lorida Llaci, et al.Neurology. Genetics|August 6, 2020
Congenital myasthenic syndrome caused by a frameshift insertion mutation in <i>GFPT1</i>Szabolcs Szelinger, Jonida Krate, Keri Ramsey, et al.Pageof 13