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American Journal of Human Genetics|May 1, 2012
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disabilityMuzammil Ahmad Khan, Muhammad Arshad Rafiq, Abdul Noor, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 6, 2018
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in MiceIsabelle Schrauwen, Arnaud Pj Giese, Abdul Aziz, et al.Science (New York, N.Y.)|January 28, 2016
Transcription factors LRF and BCL11A independently repress expression of fetal hemoglobinTakeshi Masuda, Xin Wang, Manami Maeda, et al.Nature|September 17, 2015
BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesisMatthew C Canver, Elenoe C Smith, Falak Sher, et al.Human Genetics|June 12, 2015
Mutation of ATF6 causes autosomal recessive achromatopsiaMuhammad Ansar, Regie Lyn P Santos-Cortez, Muhammad Arif Nadeem Saqib, et al.Human Genetics|September 1, 2018
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disabilityRegie Lyn P Santos-Cortez, Valeed Khan, Falak Sher Khan, et al.Nature Genetics|June 30, 2019
Rational targeting of a NuRD subcomplex guided by comprehensive in situ mutagenesisFalak Sher, Mir Hossain, Davide Seruggia, et al.BMC Medical Genetics|June 25, 2015
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like FeaturesMuhammad Arshad Rafiq, Claire S Leblond, Muhammad Arif Nadeem Saqib, et al.Biorxiv : the Preprint Server for Biology|April 16, 2025
A proteogenomic tool uncovers protein markers for human microglial statesVerena Haage, Alex R Bautista, John Tuddenham, et al.Pageof 5