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Clinical Genetics|November 16, 2019
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndromeHisham Alkuraya, Nisha Patel, Niema Ibrahim, et al.
Ebiomedicine|May 10, 2025
SLK is mutated in individuals with a neurodevelopmental disorderLama Alabdi, Norah Altuwaijri, Jun-Yi Zhu, et al.
Genome Biology|June 20, 2020
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnosticsSateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida, et al.
Brain : a Journal of Neurology|October 6, 2022
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defectsLama AlAbdi, Muriel Desbois, Domniţa-Valeria Rusnac, et al.
American Journal of Human Genetics|March 26, 2026
Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobilityLama Alabdi, Abdullah Sezer, Fatema Alzahrani, et al.
Genome Medicine|December 15, 2023
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseasesLama AlAbdi, Hanan E Shamseldin, Ebtissal Khouj, et al.
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