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Blood|January 9, 2016
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndromeSandra Ammann, Ansgar Schulz, Ingeborg Krägeloh-Mann, et al.Nature Genetics|September 17, 2013
A de novo gain-of-function mutation in SCN11A causes loss of pain perceptionEnrico Leipold, Lutz Liebmann, G Christoph Korenke, et al.Genome Medicine|August 23, 2023
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletionsNikolai Tschernoster, Florian Erger, Stefan Kohl, et al.Journal of the American Society of Nephrology : JASN|January 15, 2022
Claudin-10a Deficiency Shifts Proximal Tubular Cl<sup>-</sup> Permeability to Cation Selectivity <i>via</i> Claudin-2 RedistributionTilman Breiderhoff, Nina Himmerkus, Luca Meoli, et al.FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 27, 2019
Biallelic mutation of human <i>SLC6A6</i> encoding the taurine transporter TAUT is linked to early retinal degenerationMarkus N Preising, Boris Görg, Christoph Friedburg, et al.Journal of Medical Genetics|December 4, 2020
Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in <i>BRCA1/2</i>: results of the observational AGO-TR1 study (NCT02222883)Jan Hauke, Philipp Harter, Corinna Ernst, et al.Genome Research|January 7, 2015
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomaliesGuntram Borck, Friederike Hög, Maria Lisa Dentici, et al.The Science of the Total Environment|October 13, 2022
SARS-CoV-2 infection dynamics revealed by wastewater sequencing analysis and deconvolutionVic-Fabienne Schumann, Rafael Ricardo de Castro Cuadrat, Emanuel Wyler, et al.JAMA Oncology|March 13, 2020
Association of Germline Variant Status With Therapy Response in High-risk Early-Stage Breast Cancer: A Secondary Analysis of the GeparOcto Randomized Clinical TrialEsther Pohl-Rescigno, Jan Hauke, Sibylle Loibl, et al.Cancers|July 9, 2022
Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian CancerMuriel Rolfes, Julika Borde, Kathrin Möllenhoff, et al.Pageof 33