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Nature Communications|October 2, 2020
Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular diseasePaige B Martin, Yu Kigoshi-Tansho, Roger B Sher, et al.
Neurology|July 1, 2018
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegenerationValentina Muto, Elisabetta Flex, Zachary Kupchinsky, et al.
Nature Communications|September 16, 2020
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular diseasePaige B Martin, Yu Kigoshi-Tansho, Roger B Sher, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorderReza Maroofian, Mina Zamani, Rauan Kaiyrzhanov, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement DisordersJuan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, et al.
Brain : a Journal of Neurology|February 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLucia Laugwitz, Fubo Cheng, Stephan C Collins, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
FRMPD4 , a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing lossDaniel Liedtke, Kristen Rak, Katrina M Schrode, et al.
American Journal of Human Genetics|November 1, 2019
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental DisorderCaroline M Dias, Jaya Punetha, Céline Zheng, et al.
American Journal of Human Genetics|May 22, 2021
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorderHolger Hengel, Shabab B Hannan, Sarah Dyack, et al.
European Journal of Medical Genetics|July 21, 2020
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq, et al.
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