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Martin Zenker

Showing results (301-310 of 338) with videos related to

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Human Mutation|June 18, 2010
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrumVerena Matejas, Bernward Hinkes, Faisal Alkandari, et al.
European Journal of Human Genetics : EJHG|June 1, 2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosisMaria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, et al.
Human Mutation|June 21, 2018
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohortJosephina A N Meester, Maja Sukalo, Kim C Schröder, et al.
Human Mutation|July 16, 2015
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan SyndromeViviana Cordeddu, Jiani C Yin, Cecilia Gunnarsson, et al.
American Journal of Medical Genetics. Part A|October 11, 2018
Proceedings of the fifth international RASopathies symposium: When development and cancer intersectKatherine A Rauen, Lisa Schoyer, Lisa Schill, et al.
European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.
American Journal of Medical Genetics. Part A|December 17, 2009
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and backKatherine A Rauen, Lisa Schoyer, Frank McCormick, et al.
Nature|February 9, 2023
Aberrant phase separation and nucleolar dysfunction in rare genetic diseasesMartin A Mensah, Henri Niskanen, Alexandre P Magalhaes, et al.
Journal of the American Society of Nephrology : JASN|February 17, 2021
Mutations in <i>PRDM15</i> Are a Novel Cause of Galloway-Mowat SyndromeNina Mann, Slim Mzoughi, Ronen Schneider, et al.
JACC. Basic to Translational Science|March 25, 2025
Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic CardiomyopathyCordula M Wolf, Martin Zenker, Olga Boleti, et al.
Pageof 34

Showing results (301-310 of 338) with videos related to

Sort By:
Pageof 34
Human Mutation|June 18, 2010
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrumVerena Matejas, Bernward Hinkes, Faisal Alkandari, et al.
European Journal of Human Genetics : EJHG|June 1, 2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosisMaria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, et al.
Human Mutation|June 21, 2018
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohortJosephina A N Meester, Maja Sukalo, Kim C Schröder, et al.
Human Mutation|July 16, 2015
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan SyndromeViviana Cordeddu, Jiani C Yin, Cecilia Gunnarsson, et al.
American Journal of Medical Genetics. Part A|October 11, 2018
Proceedings of the fifth international RASopathies symposium: When development and cancer intersectKatherine A Rauen, Lisa Schoyer, Lisa Schill, et al.
European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.
American Journal of Medical Genetics. Part A|December 17, 2009
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and backKatherine A Rauen, Lisa Schoyer, Frank McCormick, et al.
Nature|February 9, 2023
Aberrant phase separation and nucleolar dysfunction in rare genetic diseasesMartin A Mensah, Henri Niskanen, Alexandre P Magalhaes, et al.
Journal of the American Society of Nephrology : JASN|February 17, 2021
Mutations in <i>PRDM15</i> Are a Novel Cause of Galloway-Mowat SyndromeNina Mann, Slim Mzoughi, Ronen Schneider, et al.
JACC. Basic to Translational Science|March 25, 2025
Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic CardiomyopathyCordula M Wolf, Martin Zenker, Olga Boleti, et al.
Pageof 34