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G Brunner

Showing results (541-550 of 727) with videos related to

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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.
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.
Cell|October 27, 1999
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndromeJ Celli, P Duijf, B C Hamel, et al.
Molecular Psychiatry|July 25, 2007
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsyJ I Friedman, T Vrijenhoek, S Markx, 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.
NPJ Parkinson'S Disease|July 25, 2018
In vivo imaging of inflammation and oxidative stress in a nonhuman primate model of cardiac sympathetic neurodegenerationJeanette M Metzger, Colleen F Moore, Carissa A Boettcher, 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.
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.
Neurobiology of Disease|April 6, 2019
Quantitative ultrasound and apoptotic death in the neonatal primate brainIvan M Rosado-Mendez, Kevin K Noguchi, Laura Castañeda-Martinez, 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.
Pageof 73

Showing results (541-550 of 727) with videos related to

Sort By:
Pageof 73
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.
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.
Cell|October 27, 1999
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndromeJ Celli, P Duijf, B C Hamel, et al.
Molecular Psychiatry|July 25, 2007
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsyJ I Friedman, T Vrijenhoek, S Markx, 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.
NPJ Parkinson'S Disease|July 25, 2018
In vivo imaging of inflammation and oxidative stress in a nonhuman primate model of cardiac sympathetic neurodegenerationJeanette M Metzger, Colleen F Moore, Carissa A Boettcher, 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.
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.
Neurobiology of Disease|April 6, 2019
Quantitative ultrasound and apoptotic death in the neonatal primate brainIvan M Rosado-Mendez, Kevin K Noguchi, Laura Castañeda-Martinez, 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.
Pageof 73