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Martin Zenker

Showing results (241-250 of 338) with videos related to

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Genetics in Medicine Open|June 11, 2025
Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panelsEmma H Wilcox, Ryan F Webb, Kezang C Tshering, et al.
Orphanet Journal of Rare Diseases|May 22, 2024
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCANicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, et al.
Genome Research|April 4, 2008
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repairMarijke Bauters, Hilde Van Esch, Michael J Friez, et al.
Orphanet Journal of Rare Diseases|October 7, 2024
Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCANicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, et al.
Human Molecular Genetics|May 21, 2019
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathyMarialetizia Motta, Lena Sagi-Dain, Oliver H F Krumbach, et al.
European Journal of Human Genetics : EJHG|October 16, 2008
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndromeThomas E Neumann, Judith Allanson, Ines Kavamura, et al.
Wellcome Open Research|August 27, 2020
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndromeIndraneel Banerjee, Senthil Senniappan, Thomas W Laver, et al.
Brain : a Journal of Neurology|September 13, 2022
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophyHannes Erdmann, Florentine Scharf, Stefanie Gehling, et al.
Circulation. Cardiovascular Genetics|May 13, 2015
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac AnomaliesLaura Southgate, Maja Sukalo, Anastasios S V Karountzos, et al.
Angiogenesis|July 5, 2024
Somatic RIT1 delins in arteriovenous malformations hyperactivate RAS-MAPK signaling amenable to MEK inhibitionFriedrich G Kapp, Farhad Bazgir, Nagi Mahammadzade, et al.
Pageof 34

Showing results (241-250 of 338) with videos related to

Sort By:
Pageof 34
Genetics in Medicine Open|June 11, 2025
Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panelsEmma H Wilcox, Ryan F Webb, Kezang C Tshering, et al.
Orphanet Journal of Rare Diseases|May 22, 2024
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCANicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, et al.
Genome Research|April 4, 2008
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repairMarijke Bauters, Hilde Van Esch, Michael J Friez, et al.
Orphanet Journal of Rare Diseases|October 7, 2024
Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCANicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, et al.
Human Molecular Genetics|May 21, 2019
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathyMarialetizia Motta, Lena Sagi-Dain, Oliver H F Krumbach, et al.
European Journal of Human Genetics : EJHG|October 16, 2008
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndromeThomas E Neumann, Judith Allanson, Ines Kavamura, et al.
Wellcome Open Research|August 27, 2020
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndromeIndraneel Banerjee, Senthil Senniappan, Thomas W Laver, et al.
Brain : a Journal of Neurology|September 13, 2022
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophyHannes Erdmann, Florentine Scharf, Stefanie Gehling, et al.
Circulation. Cardiovascular Genetics|May 13, 2015
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac AnomaliesLaura Southgate, Maja Sukalo, Anastasios S V Karountzos, et al.
Angiogenesis|July 5, 2024
Somatic RIT1 delins in arteriovenous malformations hyperactivate RAS-MAPK signaling amenable to MEK inhibitionFriedrich G Kapp, Farhad Bazgir, Nagi Mahammadzade, et al.
Pageof 34