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Brain : a Journal of Neurology|November 18, 2021
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseasesSemra Hiz Kurul, Yavuz Oktay, Ana Töpf, 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.Brain : a Journal of Neurology|June 19, 2022
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegiaLuis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian, et al.Brain : a Journal of Neurology|July 17, 2023
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmissionJames Fasham, Antje K Huebner, Lutz Liebmann, et al.Journal of Inherited Metabolic Disease|September 15, 2023
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular traffickingRuizhi Duan, Dana Marafi, Zhi-Jie Xia, et al.Brain : a Journal of Neurology|June 14, 2015
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73Robert N Jinks, Erik G Puffenberger, Emma Baple, et al.Orphanet Journal of Rare Diseases|July 19, 2022
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disordersPaola Borgia, Simona Baldassari, Nicoletta Pedemonte, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 27, 2025
ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsyRhys Dore, Chu-Ting Chang, Amber Declève, et al.Genome Medicine|May 12, 2026
Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disordersBeatrice Valtorta, Zuzana Polackova, Reza Maroofian, et al.Brain : a Journal of Neurology|September 16, 2024
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndromeMicol Falabella, Chiara Pizzamiglio, Luis Carlos Tabara, et al.Pageof 28