Showing results (41-50 of 66) with videos related to

Sort By:
Pageof 7
Nature Communications|February 5, 2025
An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variantsBruce Nmezi, Guillermo Rodriguez Bey, Talia DeFrancesco Oranburg, et al.
Brain : a Journal of Neurology|December 22, 2018
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnessesNicole J Van Bergen, Yiran Guo, Julia Rankin, et al.
Cell|July 8, 2014
Disruptive CHD8 mutations define a subtype of autism early in developmentRaphael Bernier, Christelle Golzio, Bo Xiong, et al.
European Journal of Human Genetics : EJHG|September 6, 2023
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous returnEmily A Huth, Xiaonan Zhao, Nichole Owen, et al.
Neurology. Genetics|February 12, 2020
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variantsLaurence Gauquelin, Ferdy K Cayami, László Sztriha, et al.
Prenatal Diagnosis|November 3, 2017
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencingKaren L Stals, Matthew Wakeling, Júlia Baptista, et al.
Brain : a Journal of Neurology|December 23, 2023
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental diseaseRalf A Husain, Xinfu Jiao, J Christopher Hennings, et al.
American Journal of Human Genetics|January 17, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndromeKarim Karimi, Yael Lichtenstein, Jack Reilly, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 15, 2023
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic DesignJussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, et al.
American Journal of Human Genetics|December 5, 2025
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxiaJames Fasham, Julia Rankin, Rachel Schot, et al.
Pageof 7