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Peter Nürnberg

Showing results (121-130 of 517) with videos related to

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Clinical Genetics|February 27, 2023
Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathyHafiza Noor Ul Ayan, Pir Sheeraz Ali, Asad Aslam Korejo, et al.
Pharmacogenetics and Genomics|December 14, 2005
Genetic signature consistent with selection against the CYP3A4*1B allele in non-African populationsMarkus Schirmer, Mohammad R Toliat, Michael Haberl, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 2, 2017
Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE)Sunay Usluer, Melek Aslı Kayserili, Aslı Gündoğdu Eken, et al.
Human Genetics|September 15, 2014
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephalyNaseebullah Kakar, Jamil Ahmad, Deborah J Morris-Rosendahl, et al.
Plos One|January 21, 2016
Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation SequencingDennis Lal, Bernd A Neubauer, Mohammad R Toliat, et al.
Brain, Behavior, and Immunity|January 16, 2026
Altered gene expression associated with postoperative delirium in patients undergoing surgery and anesthesiaMaria Heinrich, Anna-Rosa Krüger, Sreyoshi Chatterjee, et al.
Plos One|May 6, 2015
Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflowAmit Kawalia, Susanne Motameny, Stephan Wonczak, et al.
Journal of Translational Medicine|October 28, 2019
First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss geneDominika Oziębło, Anna Sarosiak, Marcin L Leja, et al.
Scientific Reports|November 5, 2016
The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same familyCharlotte Reiff, Marta Owczarek-Lipska, Georg Spital, et al.
The Lancet. Neurology|August 2, 2012
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification studyHendrik Rosewich, Holger Thiele, Andreas Ohlenbusch, et al.
Pageof 52

Showing results (121-130 of 517) with videos related to

Sort By:
Pageof 52
Clinical Genetics|February 27, 2023
Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathyHafiza Noor Ul Ayan, Pir Sheeraz Ali, Asad Aslam Korejo, et al.
Pharmacogenetics and Genomics|December 14, 2005
Genetic signature consistent with selection against the CYP3A4*1B allele in non-African populationsMarkus Schirmer, Mohammad R Toliat, Michael Haberl, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 2, 2017
Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE)Sunay Usluer, Melek Aslı Kayserili, Aslı Gündoğdu Eken, et al.
Human Genetics|September 15, 2014
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephalyNaseebullah Kakar, Jamil Ahmad, Deborah J Morris-Rosendahl, et al.
Plos One|January 21, 2016
Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation SequencingDennis Lal, Bernd A Neubauer, Mohammad R Toliat, et al.
Brain, Behavior, and Immunity|January 16, 2026
Altered gene expression associated with postoperative delirium in patients undergoing surgery and anesthesiaMaria Heinrich, Anna-Rosa Krüger, Sreyoshi Chatterjee, et al.
Plos One|May 6, 2015
Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflowAmit Kawalia, Susanne Motameny, Stephan Wonczak, et al.
Journal of Translational Medicine|October 28, 2019
First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss geneDominika Oziębło, Anna Sarosiak, Marcin L Leja, et al.
Scientific Reports|November 5, 2016
The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same familyCharlotte Reiff, Marta Owczarek-Lipska, Georg Spital, et al.
The Lancet. Neurology|August 2, 2012
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification studyHendrik Rosewich, Holger Thiele, Andreas Ohlenbusch, et al.
Pageof 52