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

Holger Prokisch

Showing results (291-300 of 370) with videos related to

Pageof 37
Sort By:
American Journal of Human Genetics|July 7, 2018
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational FunctionZhiwen Xu, Wing-Sze Lo, David B Beck, et al.
American Journal of Human Genetics|August 16, 2016
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2Hannah Kennedy, Tobias B Haack, Verity Hartill, et al.
Diabetes|June 28, 2014
Genetic determinants of circulating interleukin-1 receptor antagonist levels and their association with glycemic traitsChristian Herder, Marja-Liisa Nuotio, Sonia Shah, et al.
Molecular Genetics and Metabolism|January 15, 2018
The genotypic and phenotypic spectrum of MTO1 deficiencyJames J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, et al.
Brain : a Journal of Neurology|December 22, 2018
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnessesNicole J Van Bergen, Yiran Guo, Julia Rankin, et al.
American Journal of Human Genetics|February 29, 2024
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophyMelanie Brugger, Antonella Lauri, Yan Zhen, et al.
American Journal of Human Genetics|November 8, 2018
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal NeuropathyKatharina Danhauser, Bader Alhaddad, Christine Makowski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2019
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathyRené G Feichtinger, Bettina E Mucha, Holger Hengel, et al.
American Journal of Human Genetics|May 15, 2018
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated CardiomyopathyArcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, et al.
Hypertension (Dallas, Tex. : 1979)|August 9, 2017
Transcriptome-Wide Analysis Identifies Novel Associations With Blood PressureTanja Zeller, Claudia Schurmann, Katharina Schramm, et al.
Pageof 37

Showing results (291-300 of 370) with videos related to

Sort By:
Pageof 37
American Journal of Human Genetics|July 7, 2018
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational FunctionZhiwen Xu, Wing-Sze Lo, David B Beck, et al.
American Journal of Human Genetics|August 16, 2016
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2Hannah Kennedy, Tobias B Haack, Verity Hartill, et al.
Diabetes|June 28, 2014
Genetic determinants of circulating interleukin-1 receptor antagonist levels and their association with glycemic traitsChristian Herder, Marja-Liisa Nuotio, Sonia Shah, et al.
Molecular Genetics and Metabolism|January 15, 2018
The genotypic and phenotypic spectrum of MTO1 deficiencyJames J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, et al.
Brain : a Journal of Neurology|December 22, 2018
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnessesNicole J Van Bergen, Yiran Guo, Julia Rankin, et al.
American Journal of Human Genetics|February 29, 2024
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophyMelanie Brugger, Antonella Lauri, Yan Zhen, et al.
American Journal of Human Genetics|November 8, 2018
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal NeuropathyKatharina Danhauser, Bader Alhaddad, Christine Makowski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2019
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathyRené G Feichtinger, Bettina E Mucha, Holger Hengel, et al.
American Journal of Human Genetics|May 15, 2018
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated CardiomyopathyArcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, et al.
Hypertension (Dallas, Tex. : 1979)|August 9, 2017
Transcriptome-Wide Analysis Identifies Novel Associations With Blood PressureTanja Zeller, Claudia Schurmann, Katharina Schramm, et al.
Pageof 37