Showing results (211-220 of 276) with videos related to

Sort By:
Pageof 28
Brain : a Journal of Neurology|June 11, 2025
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathyMaureen Jacob, Heike Kölbel, Philip Harrer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
PIGG variant pathogenicity assessment reveals characteristic features within 19 familiesCamille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, et al.
Brain : a Journal of Neurology|February 9, 2021
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathyAlistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, et al.
American Journal of Human Genetics|September 2, 2022
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvementRauan Kaiyrzhanov, Sami E M Mohammed, Reza Maroofian, et al.
Human Mutation|April 13, 2021
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disabilitySonja Neuser, Barbara Brechmann, Gali Heimer, et al.
Human Molecular Genetics|August 2, 2023
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic featuresZhigang Liu, Baozhong Xin, Iris N Smith, et al.
Brain : a Journal of Neurology|April 4, 2022
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsyMarieke M van der Knoop, Reza Maroofian, Yuko Fukata, et al.
Brain : a Journal of Neurology|March 8, 2024
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disordersJai Sidpra, Sniya Sudhakar, Asthik Biswas, et al.
HGG Advances|March 27, 2026
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorderLauretta El Hayek, Ashlesha Gogate, Wei-Chen Chen, et al.
Ebiomedicine|August 27, 2024
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3Pablo Iruzubieta, César Augusto Pinheiro Ferreira Alves, Aisha M Al Shamsi, et al.
Pageof 28