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Human Mutation|July 5, 2022
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperonesCristina Segovia-Falquina, Alicia Vilas, Fátima Leal, et al.Human Mutation|November 30, 2020
A high-content drug screening strategy to identify protein level modulators for genetic diseases: A proof-of-principle in autosomal dominant leukodystrophyElisa Giorgio, Emanuela Pesce, Elisa Pozzi, et al.Human Mutation|November 30, 2020
Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journalsJan Higgins, Raymond Dalgleish, Johan T den Dunnen, et al.Human Mutation|July 15, 2021
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndromeMarlies Colman, Delfien Syx, Inge De Wandele, et al.Human Mutation|July 23, 2021
Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unitJuan Liu, Yu Zheng, Jiaotian Huang, et al.Human Mutation|May 24, 2022
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypesMarcello Scala, Nathalie Drouot, Suzanna C MacLennan, et al.Human Mutation|July 17, 2021
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiencyDipti Deshpande, Shailesh Kumar Gupta, Asodu Sandeep Sarma, et al.Human Mutation|May 2, 2008
Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlationC Crétolle, A Pelet, D Sanlaville, et al.Human Mutation|May 6, 2008
Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in miceSapna Gupta, Liqun Wang, Xiang Hua, et al.Human Mutation|April 12, 2008
Mutations, structural variations, and genome-wide resequencing: where to from here in our understanding of disease and evolution?Tania TabonePageof 575