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Christian Windpassinger

Showing results (51-60 of 69) with videos related to

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Journal of Neurology|September 6, 2011
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth diseaseCarina Fischer, Slave Trajanoski, Lea Papić, et al.
Peerj|February 8, 2021
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genesChristian Guelly, Zhannur Abilova, Omirbek Nuralinov, et al.
Circulation. Cardiovascular Genetics|August 28, 2012
Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 geneJosepha S Binder, Frank Weidemann, Benedikt Schoser, et al.
The Journal of Investigative Dermatology|December 27, 2016
Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen ModificationRobert Gruber, Clare Rogerson, Christian Windpassinger, et al.
Human Molecular Genetics|June 22, 2014
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani familyMuzammil A Khan, Verena M Rupp, Meritxell Orpinell, et al.
Journal of Genetics|August 13, 2025
Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent <i>CDK6</i> variant [c.589G>A, p.(Ala197Thr)] in the Pakistani populationMuzammil Ahmad Khan, Jasmin Blatterer, Markus Kuster, et al.
Brain : a Journal of Neurology|May 18, 2011
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skinMichaela Auer-Grumbach, Martin Weger, Regina Fink-Puches, et al.
Human Molecular Genetics|March 15, 2014
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disabilityMarie Bernkopf, Gerald Webersinke, Chanakan Tongsook, et al.
American Journal of Human Genetics|May 1, 2012
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disabilityMuzammil Ahmad Khan, Muhammad Arshad Rafiq, Abdul Noor, et al.
The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry|October 15, 2016
Is the molecular clock ticking differently in bipolar disorder? Methylation analysis of the clock gene ARNTLSusanne A Bengesser, Eva Z Reininghaus, Nina Lackner, et al.
Pageof 7

Showing results (51-60 of 69) with videos related to

Sort By:
Pageof 7
Journal of Neurology|September 6, 2011
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth diseaseCarina Fischer, Slave Trajanoski, Lea Papić, et al.
Peerj|February 8, 2021
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genesChristian Guelly, Zhannur Abilova, Omirbek Nuralinov, et al.
Circulation. Cardiovascular Genetics|August 28, 2012
Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 geneJosepha S Binder, Frank Weidemann, Benedikt Schoser, et al.
The Journal of Investigative Dermatology|December 27, 2016
Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen ModificationRobert Gruber, Clare Rogerson, Christian Windpassinger, et al.
Human Molecular Genetics|June 22, 2014
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani familyMuzammil A Khan, Verena M Rupp, Meritxell Orpinell, et al.
Journal of Genetics|August 13, 2025
Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent <i>CDK6</i> variant [c.589G>A, p.(Ala197Thr)] in the Pakistani populationMuzammil Ahmad Khan, Jasmin Blatterer, Markus Kuster, et al.
Brain : a Journal of Neurology|May 18, 2011
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skinMichaela Auer-Grumbach, Martin Weger, Regina Fink-Puches, et al.
Human Molecular Genetics|March 15, 2014
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disabilityMarie Bernkopf, Gerald Webersinke, Chanakan Tongsook, et al.
American Journal of Human Genetics|May 1, 2012
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disabilityMuzammil Ahmad Khan, Muhammad Arshad Rafiq, Abdul Noor, et al.
The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry|October 15, 2016
Is the molecular clock ticking differently in bipolar disorder? Methylation analysis of the clock gene ARNTLSusanne A Bengesser, Eva Z Reininghaus, Nina Lackner, et al.
Pageof 7