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Genes|May 28, 2022
SCN1A 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.Communications Biology|April 20, 2022
Exome sequencing of families from Ghana reveals known and candidate hearing impairment genesAmbroise Wonkam, Samuel Mawuli Adadey, Isabelle Schrauwen, et al.Human Genetics|April 15, 2019
Variants in KIAA0825 underlie autosomal recessive postaxial polydactylyIrfan Ullah, Naseebullah Kakar, Isabelle Schrauwen, et al.Human Genetics|September 1, 2018
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disabilityRegie Lyn P Santos-Cortez, Valeed Khan, Falak Sher Khan, et al.Human Genetics|March 12, 2021
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of FinlandIrma Järvelä, Tuomo Määttä, Anushree Acharya, et al.European Journal of Human Genetics : EJHG|June 17, 2021
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairmentThashi Bharadwaj, Isabelle Schrauwen, Sakina Rehman, et al.American Journal of Human Genetics|January 26, 2016
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2Regie Lyn P Santos-Cortez, Rabia Faridi, Atteeq U Rehman, et al.Human Mutation|October 11, 2018
Global genetic insight contributed by consanguineous Pakistani families segregating hearing lossElodie M Richard, Regie Lyn P Santos-Cortez, Rabia Faridi, et al.Journal of Medical Genetics|July 29, 2021
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disordersAnushree Acharya, Haluk Kavus, Patrick Dunn, et al.Nature Genetics|June 30, 2015
Rare A2ML1 variants confer susceptibility to otitis mediaRegie Lyn P Santos-Cortez, Charlotte M Chiong, Ma Rina T Reyes-Quintos, et al.Pageof 7