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Martin Zenker

Showing results (151-160 of 338) with videos related to

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Journal of the American College of Cardiology|May 4, 2019
Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-InhibitionGregor Andelfinger, Christopher Marquis, Marie-Josée Raboisson, et al.
Scientific Reports|March 22, 2023
Microbial composition of tumorous and adjacent gastric tissue is associated with prognosis of gastric cancerKonrad Lehr, Darja Nikitina, Ramiro Vilchez-Vargas, et al.
American Journal of Medical Genetics. Part A|December 23, 2017
The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumorFrederike L Harms, Malik Alawi, David J Amor, et al.
European Journal of Medical Genetics|November 10, 2021
Management of cardiac aspects in children with Noonan syndrome - results from a European clinical practice survey among paediatric cardiologistsCordula M Wolf, Martin Zenker, Emma Burkitt-Wright, et al.
Journal of Medical Genetics|April 7, 2007
Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activationIneke van der Burgt, William Kupsky, Stephani Stassou, et al.
Plos One|September 21, 2011
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndromeCheol-Sang Hwang, Maja Sukalo, Olga Batygin, et al.
Human Molecular Genetics|November 28, 2018
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signalingMarialetizia Motta, Miray Fidan, Emanuele Bellacchio, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysisMaja Sukalo, Eva Schäflein, Ina Schanze, et al.
Biomarkers in Medicine|December 20, 2014
Pilot study of association of catechol-O-methyl transferase rs4680 genotypes with acute kidney injury and tubular stress after open heart surgeryChristian Albert, Johanna Kube, Anja Haase-Fielitz, et al.
In Vivo (Athens, Greece)|January 1, 2022
Oral HRAS Mutation in Orofacial Nevus Sebaceous Syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome): A Case Report With a Literature SurveyReinhard E Friedrich, Martin Gosau, Andreas M Luebke, et al.
Pageof 34

Showing results (151-160 of 338) with videos related to

Sort By:
Pageof 34
Journal of the American College of Cardiology|May 4, 2019
Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-InhibitionGregor Andelfinger, Christopher Marquis, Marie-Josée Raboisson, et al.
Scientific Reports|March 22, 2023
Microbial composition of tumorous and adjacent gastric tissue is associated with prognosis of gastric cancerKonrad Lehr, Darja Nikitina, Ramiro Vilchez-Vargas, et al.
American Journal of Medical Genetics. Part A|December 23, 2017
The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumorFrederike L Harms, Malik Alawi, David J Amor, et al.
European Journal of Medical Genetics|November 10, 2021
Management of cardiac aspects in children with Noonan syndrome - results from a European clinical practice survey among paediatric cardiologistsCordula M Wolf, Martin Zenker, Emma Burkitt-Wright, et al.
Journal of Medical Genetics|April 7, 2007
Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activationIneke van der Burgt, William Kupsky, Stephani Stassou, et al.
Plos One|September 21, 2011
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndromeCheol-Sang Hwang, Maja Sukalo, Olga Batygin, et al.
Human Molecular Genetics|November 28, 2018
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signalingMarialetizia Motta, Miray Fidan, Emanuele Bellacchio, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysisMaja Sukalo, Eva Schäflein, Ina Schanze, et al.
Biomarkers in Medicine|December 20, 2014
Pilot study of association of catechol-O-methyl transferase rs4680 genotypes with acute kidney injury and tubular stress after open heart surgeryChristian Albert, Johanna Kube, Anja Haase-Fielitz, et al.
In Vivo (Athens, Greece)|January 1, 2022
Oral HRAS Mutation in Orofacial Nevus Sebaceous Syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome): A Case Report With a Literature SurveyReinhard E Friedrich, Martin Gosau, Andreas M Luebke, et al.
Pageof 34