Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Martin Zenker

Showing results (291-300 of 338) with videos related to

Pageof 34
Sort By:
Clinical Immunology (Orlando, Fla.)|September 23, 2023
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinibFriedrich G Kapp, Stefanie Kretschmer, Cora C A Beckmann, et al.
Nature Genetics|December 8, 2009
A restricted spectrum of NRAS mutations causes Noonan syndromeIon C Cirstea, Kerstin Kutsche, Radovan Dvorsky, et al.
Human Mutation|July 5, 2022
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephalyNina Bögershausen, Hannah E Krawczyk, Rami A Jamra, et al.
BMC Medicine|April 16, 2026
Detection rate and mutational landscape in extracranial arteriovenous malformations: a cohort studyVanessa F Schmidt, Denny Schanze, Richard Brill, et al.
European Journal of Human Genetics : EJHG|September 10, 2024
Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlationsEva Vanbelleghem, Tim Van Damme, Aude Beyens, et al.
European Journal of Human Genetics : EJHG|July 12, 2024
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlationsEva Vanbelleghem, Tim Van Damme, Aude Beyens, et al.
American Journal of Human Genetics|May 28, 2019
Activating Mutations of RRAS2 Are a Rare Cause of Noonan SyndromeYline Capri, Elisabetta Flex, Oliver H F Krumbach, et al.
Cancers|April 30, 2021
Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and AustriaMadlen Reschke, Eva Biewald, Leo Bronstein, et al.
American Journal of Human Genetics|October 9, 2021
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotypeMarialetizia Motta, Giulia Fasano, Sina Gredy, et al.
European Journal of Human Genetics : EJHG|February 20, 2009
A large-scale mutation search reveals genetic heterogeneity in 3M syndromeCéline Huber, Anee-Lise Delezoide, Fabien Guimiot, et al.
Pageof 34

Showing results (291-300 of 338) with videos related to

Sort By:
Pageof 34
Clinical Immunology (Orlando, Fla.)|September 23, 2023
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinibFriedrich G Kapp, Stefanie Kretschmer, Cora C A Beckmann, et al.
Nature Genetics|December 8, 2009
A restricted spectrum of NRAS mutations causes Noonan syndromeIon C Cirstea, Kerstin Kutsche, Radovan Dvorsky, et al.
Human Mutation|July 5, 2022
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephalyNina Bögershausen, Hannah E Krawczyk, Rami A Jamra, et al.
BMC Medicine|April 16, 2026
Detection rate and mutational landscape in extracranial arteriovenous malformations: a cohort studyVanessa F Schmidt, Denny Schanze, Richard Brill, et al.
European Journal of Human Genetics : EJHG|September 10, 2024
Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlationsEva Vanbelleghem, Tim Van Damme, Aude Beyens, et al.
European Journal of Human Genetics : EJHG|July 12, 2024
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlationsEva Vanbelleghem, Tim Van Damme, Aude Beyens, et al.
American Journal of Human Genetics|May 28, 2019
Activating Mutations of RRAS2 Are a Rare Cause of Noonan SyndromeYline Capri, Elisabetta Flex, Oliver H F Krumbach, et al.
Cancers|April 30, 2021
Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and AustriaMadlen Reschke, Eva Biewald, Leo Bronstein, et al.
American Journal of Human Genetics|October 9, 2021
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotypeMarialetizia Motta, Giulia Fasano, Sina Gredy, et al.
European Journal of Human Genetics : EJHG|February 20, 2009
A large-scale mutation search reveals genetic heterogeneity in 3M syndromeCéline Huber, Anee-Lise Delezoide, Fabien Guimiot, et al.
Pageof 34