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

Christian Windpassinger

Showing results (61-70 of 69) with videos related to

Pageof 7
Sort By:
You have reached the last page of results.This site can display upto 69 results.
Oxidative Medicine and Cellular Longevity|August 15, 2017
Combined Respiratory Chain Deficiency and <i>UQCC2</i> Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III DeficienciesRené G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, et al.
Nature Genetics|February 26, 2004
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndromeChristian Windpassinger, Michaela Auer-Grumbach, Joy Irobi, et al.
Nature Communications|October 14, 2014
Germline variants in the SEMA4A gene predispose to familial colorectal cancer type XEduard Schulz, Petra Klampfl, Stefanie Holzapfel, et al.
Nature Genetics|August 30, 2011
Germline mutations in BAP1 predispose to melanocytic tumorsThomas Wiesner, Anna C Obenauf, Rajmohan Murali, et al.
Nature Genetics|May 4, 2004
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathyOleg V Evgrafov, Irena Mersiyanova, Joy Irobi, et al.
Human Molecular Genetics|February 9, 2013
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizuresAnath C Lionel, Andrea K Vaags, Daisuke Sato, et al.
Human Molecular Genetics|July 25, 2015
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disabilityAbolfazl Heidari, Chanakan Tongsook, Reza Najafipour, et al.
American Journal of Human Genetics|September 9, 2017
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental DelaysChristian Windpassinger, Juliette Piard, Carine Bonnard, et al.
Nature Genetics|December 11, 2012
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagyThomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, et al.
Pageof 7

Showing results (61-70 of 69) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 69 results.
Oxidative Medicine and Cellular Longevity|August 15, 2017
Combined Respiratory Chain Deficiency and <i>UQCC2</i> Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III DeficienciesRené G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, et al.
Nature Genetics|February 26, 2004
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndromeChristian Windpassinger, Michaela Auer-Grumbach, Joy Irobi, et al.
Nature Communications|October 14, 2014
Germline variants in the SEMA4A gene predispose to familial colorectal cancer type XEduard Schulz, Petra Klampfl, Stefanie Holzapfel, et al.
Nature Genetics|August 30, 2011
Germline mutations in BAP1 predispose to melanocytic tumorsThomas Wiesner, Anna C Obenauf, Rajmohan Murali, et al.
Nature Genetics|May 4, 2004
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathyOleg V Evgrafov, Irena Mersiyanova, Joy Irobi, et al.
Human Molecular Genetics|February 9, 2013
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizuresAnath C Lionel, Andrea K Vaags, Daisuke Sato, et al.
Human Molecular Genetics|July 25, 2015
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disabilityAbolfazl Heidari, Chanakan Tongsook, Reza Najafipour, et al.
American Journal of Human Genetics|September 9, 2017
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental DelaysChristian Windpassinger, Juliette Piard, Carine Bonnard, et al.
Nature Genetics|December 11, 2012
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagyThomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, et al.
Pageof 7