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Martin Zenker

Showing results (281-290 of 338) with videos related to

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Nature Genetics|August 18, 2009
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hairViviana Cordeddu, Elia Di Schiavi, Len A Pennacchio, et al.
Nature Genetics|November 29, 2005
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)Martin Zenker, Julia Mayerle, Markus M Lerch, et al.
Nature Genetics|April 29, 2024
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagyKarla P Figueroa, Caspar Gross, Elena Buena-Atienza, et al.
Nature Communications|October 2, 2020
Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular diseasePaige B Martin, Yu Kigoshi-Tansho, Roger B Sher, et al.
JAMA|May 9, 2013
Identification of genetic loci associated with Helicobacter pylori serologic statusJulia Mayerle, Caroline M den Hoed, Claudia Schurmann, et al.
Communications Biology|June 21, 2023
Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissuesSaeideh Nakhaei-Rad, Fereshteh Haghighi, Farhad Bazgir, et al.
American Journal of Human Genetics|August 26, 2014
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayRocio Acuna-Hidalgo, Denny Schanze, Ariana Kariminejad, et al.
Nature Communications|September 16, 2020
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular diseasePaige B Martin, Yu Kigoshi-Tansho, Roger B Sher, et al.
Human Mutation|June 25, 2020
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disordersFatima Abdelfattah, Ariana Kariminejad, Anne-Karin Kahlert, et al.
International Journal of Cardiology|September 30, 2023
Sudden cardiac death in childhood RASopathy-associated hypertrophic cardiomyopathy: Validation of the HCM risk-kids model and predictors of eventsOlga D Boleti, Sotirios Roussos, Gabrielle Norrish, et al.
Pageof 34

Showing results (281-290 of 338) with videos related to

Sort By:
Pageof 34
Nature Genetics|August 18, 2009
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hairViviana Cordeddu, Elia Di Schiavi, Len A Pennacchio, et al.
Nature Genetics|November 29, 2005
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)Martin Zenker, Julia Mayerle, Markus M Lerch, et al.
Nature Genetics|April 29, 2024
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagyKarla P Figueroa, Caspar Gross, Elena Buena-Atienza, et al.
Nature Communications|October 2, 2020
Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular diseasePaige B Martin, Yu Kigoshi-Tansho, Roger B Sher, et al.
JAMA|May 9, 2013
Identification of genetic loci associated with Helicobacter pylori serologic statusJulia Mayerle, Caroline M den Hoed, Claudia Schurmann, et al.
Communications Biology|June 21, 2023
Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissuesSaeideh Nakhaei-Rad, Fereshteh Haghighi, Farhad Bazgir, et al.
American Journal of Human Genetics|August 26, 2014
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayRocio Acuna-Hidalgo, Denny Schanze, Ariana Kariminejad, et al.
Nature Communications|September 16, 2020
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular diseasePaige B Martin, Yu Kigoshi-Tansho, Roger B Sher, et al.
Human Mutation|June 25, 2020
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disordersFatima Abdelfattah, Ariana Kariminejad, Anne-Karin Kahlert, et al.
International Journal of Cardiology|September 30, 2023
Sudden cardiac death in childhood RASopathy-associated hypertrophic cardiomyopathy: Validation of the HCM risk-kids model and predictors of eventsOlga D Boleti, Sotirios Roussos, Gabrielle Norrish, et al.
Pageof 34