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Biological Chemistry|September 10, 2013
Enrichment of target sequences for next-generation sequencing applications in research and diagnosticsJanine Altmüller, Birgit S Budde, Peter NürnbergPlos One|December 22, 2006
Genes from Chagas susceptibility loci that are differentially expressed in T. cruzi-resistant mice are candidates accounting for impaired immunitySebastian E B Graefe, Thomas Streichert, Birgit S Budde, et al.Journal of Molecular Medicine (Berlin, Germany)|June 29, 2026
Integrative genetic and functional analysis of autosomal dominant hearing loss in 108 multigenerational familiesDominika Oziębło, Marcin L Leja, Nina Gan, et al.Orphanet Journal of Rare Diseases|June 25, 2015
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasiaKatja Stange, Julie Désir, Naseebullah Kakar, et al.Journal of Translational Medicine|October 28, 2019
First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss geneDominika Oziębło, Anna Sarosiak, Marcin L Leja, et al.Human Genetics|April 21, 2015
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3Birgit S Budde, Shuji Mizumoto, Ryo Kogawa, et al.Clinical Genetics|April 13, 2020
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing lossBirgit S Budde, Maha Abdelgaber Aly, Mostafa R Mohamed, et al.Plos One|December 27, 2007
Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain geneBirgit S Budde, Priska Binner, Stephan Waldmüller, et al.FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 27, 2019
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degenerationMarkus N Preising, Boris Görg, Christoph Friedburg, et al.HGG Advances|May 16, 2022
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathwayMaria Asif, Emrah Kaygusuz, Marwan Shinawi, et al.Pageof 2