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Journal of Human Genetics|July 6, 2021
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairmentSamuel M Adadey, Isabelle Schrauwen, Elvis Twumasi Aboagye, et al.European Journal of Human Genetics : EJHG|December 24, 2015
Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disabilityMuhammad Ansar, Abid Jan, Regie Lyn P Santos-Cortez, et al.The American Journal of Tropical Medicine and Hygiene|October 11, 2017
Distribution of Mutations Associated with Antifolate and Chloroquine Resistance among Imported Plasmodium vivax in the State of QatarDevendra Bansal, Anushree Acharya, Praveen K Bharti, et al.Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|August 17, 2018
The SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear ImplanteesCharlotte M Chiong, Ma Rina T Reyes-Quintos, Talitha Karisse L Yarza, et al.European Journal of Human Genetics : EJHG|September 8, 2023
Variants in EFCAB7 underlie nonsyndromic postaxial polydactylyMuhammad Bilal, Hammal Khan, Muhammad Javed Khan, et al.Genes|November 27, 2021
A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African FamilyNoluthando Manyisa, Isabelle Schrauwen, Leonardo Alves de Souza Rios, et al.Investigative Ophthalmology & Visual Science|September 13, 2018
Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis PigmentosaZahid Latif, Imen Chakchouk, Isabelle Schrauwen, 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.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.Pageof 7