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 (11-20 of 69) with videos related to

Pageof 7
Sort By:
Journal of Neuromuscular Diseases|March 29, 2025
Signs and symptoms of carriers of non-<i>DMD</i> X-linked neuromuscular diseases: A scoping reviewJob Simons, Amanda Dekker, Rosanne Govaarts, et al.
Journal of Human Genetics|December 21, 2005
Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC geneLisa Ofner, Jochen Raedle, Christian Windpassinger, et al.
FEBS Letters|April 1, 2006
Membrane topology of the human seipin proteinCarolina Lundin, Rickard Nordström, Klaus Wagner, et al.
American Journal of Medical Genetics. Part A|February 5, 2003
Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locusErwin Petek, Christian Windpassinger, Monika Mach, et al.
Journal of the Neurological Sciences|August 23, 2011
Community acquired Staphylococcus aureus meningitis and cerebral abscesses in a patient with a hyper-IgE and a Dubowitz-like syndromeMarkus Beitzke, Christian Enzinger, Christian Windpassinger, et al.
Molecular Genetics & Genomic Medicine|January 11, 2020
Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani familyMuhammad Z Ali, Jasmin Blatterer, Muzammil A Khan, et al.
Archives of Neurology|July 11, 2007
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL geneGabriel Miltenberger-Miltenyi, Andreas R Janecke, Julia V Wanschitz, et al.
Neurological Research|November 28, 2020
Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2HSafdar Abbas, Beatrice Brugger, Muhammad Zubair, et al.
Clinical Neurology and Neurosurgery|August 17, 2005
Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literatureBeate Winner, Claudia Gross, Gökhan Uyanik, et al.
European Journal of Medical Genetics|July 11, 2006
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS)Thomas Schwarzbraun, Christian Windpassinger, Lisa Ofner, et al.
Pageof 7

Showing results (11-20 of 69) with videos related to

Sort By:
Pageof 7
Journal of Neuromuscular Diseases|March 29, 2025
Signs and symptoms of carriers of non-<i>DMD</i> X-linked neuromuscular diseases: A scoping reviewJob Simons, Amanda Dekker, Rosanne Govaarts, et al.
Journal of Human Genetics|December 21, 2005
Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC geneLisa Ofner, Jochen Raedle, Christian Windpassinger, et al.
FEBS Letters|April 1, 2006
Membrane topology of the human seipin proteinCarolina Lundin, Rickard Nordström, Klaus Wagner, et al.
American Journal of Medical Genetics. Part A|February 5, 2003
Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locusErwin Petek, Christian Windpassinger, Monika Mach, et al.
Journal of the Neurological Sciences|August 23, 2011
Community acquired Staphylococcus aureus meningitis and cerebral abscesses in a patient with a hyper-IgE and a Dubowitz-like syndromeMarkus Beitzke, Christian Enzinger, Christian Windpassinger, et al.
Molecular Genetics & Genomic Medicine|January 11, 2020
Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani familyMuhammad Z Ali, Jasmin Blatterer, Muzammil A Khan, et al.
Archives of Neurology|July 11, 2007
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL geneGabriel Miltenberger-Miltenyi, Andreas R Janecke, Julia V Wanschitz, et al.
Neurological Research|November 28, 2020
Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2HSafdar Abbas, Beatrice Brugger, Muhammad Zubair, et al.
Clinical Neurology and Neurosurgery|August 17, 2005
Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literatureBeate Winner, Claudia Gross, Gökhan Uyanik, et al.
European Journal of Medical Genetics|July 11, 2006
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS)Thomas Schwarzbraun, Christian Windpassinger, Lisa Ofner, et al.
Pageof 7