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Han G Brunner

Showing results (161-170 of 318) with videos related to

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American Journal of Human Genetics|January 24, 2012
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndromeMichael A Simpson, Charu Deshpande, Dimitra Dafou, et al.
American Journal of Human Genetics|November 20, 2012
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndromeJanneke H M Schuurs-Hoeijmakers, Edwin C Oh, Lisenka E L M Vissers, et al.
Circulation. Genomic and Precision Medicine|March 22, 2024
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac DiseasesJob A J Verdonschot, Debby M E I Hellebrekers, Vanessa P M van Empel, et al.
Genome Medicine|June 16, 2022
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applicationsGaby Schobers, Jolanda H Schieving, Helger G Yntema, et al.
Human Molecular Genetics|July 7, 2009
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architectureLisenka E L M Vissers, Samarth S Bhatt, Irene M Janssen, et al.
American Journal of Human Genetics|May 11, 2006
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier malesStephen R F Twigg, Kazuya Matsumoto, Alexa M J Kidd, et al.
European Journal of Human Genetics : EJHG|July 14, 2016
Rare novel variants in the ZIC3 gene cause X-linked heterotaxyAimee D C Paulussen, Anja Steyls, Jo Vanoevelen, et al.
Molecular Genetics & Genomic Medicine|December 28, 2019
Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiersJob A J Verdonschot, Emma L Robinson, Kiely N James, et al.
JACC. Cardiovascular Imaging|June 17, 2019
Value of Speckle Tracking-Based Deformation Analysis in Screening Relatives of Patients With Asymptomatic Dilated CardiomyopathyJob A J Verdonschot, Jort J Merken, Hans-Peter Brunner-La Rocca, et al.
European Heart Journal|November 6, 2020
Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differencesJob A J Verdonschot, Marco Merlo, Fernando Dominguez, et al.
Pageof 32

Showing results (161-170 of 318) with videos related to

Sort By:
Pageof 32
American Journal of Human Genetics|January 24, 2012
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndromeMichael A Simpson, Charu Deshpande, Dimitra Dafou, et al.
American Journal of Human Genetics|November 20, 2012
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndromeJanneke H M Schuurs-Hoeijmakers, Edwin C Oh, Lisenka E L M Vissers, et al.
Circulation. Genomic and Precision Medicine|March 22, 2024
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac DiseasesJob A J Verdonschot, Debby M E I Hellebrekers, Vanessa P M van Empel, et al.
Genome Medicine|June 16, 2022
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applicationsGaby Schobers, Jolanda H Schieving, Helger G Yntema, et al.
Human Molecular Genetics|July 7, 2009
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architectureLisenka E L M Vissers, Samarth S Bhatt, Irene M Janssen, et al.
American Journal of Human Genetics|May 11, 2006
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier malesStephen R F Twigg, Kazuya Matsumoto, Alexa M J Kidd, et al.
European Journal of Human Genetics : EJHG|July 14, 2016
Rare novel variants in the ZIC3 gene cause X-linked heterotaxyAimee D C Paulussen, Anja Steyls, Jo Vanoevelen, et al.
Molecular Genetics & Genomic Medicine|December 28, 2019
Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiersJob A J Verdonschot, Emma L Robinson, Kiely N James, et al.
JACC. Cardiovascular Imaging|June 17, 2019
Value of Speckle Tracking-Based Deformation Analysis in Screening Relatives of Patients With Asymptomatic Dilated CardiomyopathyJob A J Verdonschot, Jort J Merken, Hans-Peter Brunner-La Rocca, et al.
European Heart Journal|November 6, 2020
Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differencesJob A J Verdonschot, Marco Merlo, Fernando Dominguez, et al.
Pageof 32