Showing results (31-40 of 41) with videos related to

Sort By:
Pageof 5
European Journal of Human Genetics : EJHG|March 31, 2026
Short-read genome sequencing at population scale: diagnostic insights from 2317 patientsSøren L Faergeman, Lotte Andreasen, Naja Becher, et al.
Circulation. Cardiovascular Genetics|April 8, 2014
Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermisTorsten B Rasmussen, Peter H Nissen, Johan Palmfeldt, et al.
European Journal of Medical Genetics|March 1, 2015
A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphologyAnja E Pen, Mette Nyegaard, Mingyan Fang, et al.
Cancers|July 2, 2021
The CRISPR/Cas9 Minipig-A Transgenic Minipig to Produce Specific Mutations in Designated TissuesMartin Fogtmann Berthelsen, Maria Riedel, Huiqiang Cai, et al.
Breast Cancer Research and Treatment|December 25, 2010
A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicingMads Thomassen, Inge Søkilde Pedersen, Ida Vogel, et al.
Breast Cancer Research and Treatment|July 20, 2011
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium membersMads Thomassen, Ana Blanco, Marco Montagna, et al.
European Journal of Medical Genetics|July 5, 2023
Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe - A multi-professional survey studyKati Koido, Charlotta Ingvoldstad Malmgren, Lejla Pojskic, et al.
Human Mutation|January 4, 2012
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific databaseMatthew Bower, Rémi Salomon, Judith Allanson, et al.
Human Mutation|August 18, 2022
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approachMads Thomassen, Romy L S Mesman, Thomas V O Hansen, et al.
Journal of Medical Genetics|April 6, 2017
<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspectsKonrad Platzer, Hongjie Yuan, Hannah Schütz, et al.
Pageof 5