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Peter Nürnberg

Showing results (111-120 of 517) with videos related to

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European Journal of Human Genetics : EJHG|October 11, 2021
Familial cleft tongue caused by a unique translation initiation codon variant in TP63Julia Schmidt, Gudrun Schreiber, Janine Altmüller, et al.
Human Mutation|August 29, 2006
SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAsAbdou ElSharawy, Carl Manaster, Markus Teuber, et al.
BMC Medical Genetics|November 13, 2012
Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressureCharlotte L Bendon, Aimée L Fenwick, Jane A Hurst, et al.
The American Journal of Tropical Medicine and Hygiene|November 6, 2007
Plasma vascular endothelial growth Factor-A (VEGF-A) and VEGF-A gene polymorphism are associated with hydrocele development in lymphatic filariasisAlexander Yaw Debrah, Sabine Mand, Mohammad Reza Toliat, et al.
Journal of Medical Genetics|August 19, 2018
Homozygosity for the c.428delG variant in <i>KIAA0586</i> in a healthy individual: implications for molecular testing in patients with Joubert syndromeSilke Pauli, Janine Altmüller, Simone Schröder, et al.
Scientific Reports|May 5, 2017
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian PeninsulaArif O Khan, Elvir Becirovic, Christian Betz, et al.
Human Mutation|September 16, 2010
Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expressionHolger Thiele, Marcel du Moulin, Katarzyna Barczyk, et al.
Orphanet Journal of Rare Diseases|September 4, 2012
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3Tobias Eisenberger, Rima Slim, Ahmad Mansour, et al.
American Journal of Medical Genetics. Part A|March 19, 2008
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 familyKirsten M Sanggaard, Klaus W Kjaer, Hans Eiberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2018
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73Tobias Eisenberger, Nataliya Di Donato, Christian Decker, et al.
Pageof 52

Showing results (111-120 of 517) with videos related to

Sort By:
Pageof 52
European Journal of Human Genetics : EJHG|October 11, 2021
Familial cleft tongue caused by a unique translation initiation codon variant in TP63Julia Schmidt, Gudrun Schreiber, Janine Altmüller, et al.
Human Mutation|August 29, 2006
SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAsAbdou ElSharawy, Carl Manaster, Markus Teuber, et al.
BMC Medical Genetics|November 13, 2012
Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressureCharlotte L Bendon, Aimée L Fenwick, Jane A Hurst, et al.
The American Journal of Tropical Medicine and Hygiene|November 6, 2007
Plasma vascular endothelial growth Factor-A (VEGF-A) and VEGF-A gene polymorphism are associated with hydrocele development in lymphatic filariasisAlexander Yaw Debrah, Sabine Mand, Mohammad Reza Toliat, et al.
Journal of Medical Genetics|August 19, 2018
Homozygosity for the c.428delG variant in <i>KIAA0586</i> in a healthy individual: implications for molecular testing in patients with Joubert syndromeSilke Pauli, Janine Altmüller, Simone Schröder, et al.
Scientific Reports|May 5, 2017
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian PeninsulaArif O Khan, Elvir Becirovic, Christian Betz, et al.
Human Mutation|September 16, 2010
Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expressionHolger Thiele, Marcel du Moulin, Katarzyna Barczyk, et al.
Orphanet Journal of Rare Diseases|September 4, 2012
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3Tobias Eisenberger, Rima Slim, Ahmad Mansour, et al.
American Journal of Medical Genetics. Part A|March 19, 2008
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 familyKirsten M Sanggaard, Klaus W Kjaer, Hans Eiberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2018
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73Tobias Eisenberger, Nataliya Di Donato, Christian Decker, et al.
Pageof 52