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Plos One|June 21, 2014
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani familiesSobia Shafique, Saima Siddiqi, Margit Schraders, et al.Plos One|December 5, 2014
A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystoniasSaima Siddiqi, Jia Nee Foo, Anthony Vu, et al.European Journal of Medical Genetics|May 16, 2020
Biallelic variants in four genes underlying recessive osteogenesis imperfectaAmir Hayat, Shabir Hussain, Muhammad Bilal, et al.BMC Musculoskeletal Disorders|August 30, 2022
Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindredsMehran Kausar, Noor Ul Ain, Farzana Hayat, et al.Disease Models & Mechanisms|January 10, 2017
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathyCelia Zazo Seco, Anna Castells-Nobau, Seol-Hee Joo, et al.Brain : a Journal of Neurology|September 28, 2023
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathiesAnnette Lischka, Katja Eggermann, Christopher J Record, et al.Pageof 4