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Showing results (131-140 of 148) with videos related to

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American Journal of Human Genetics|June 4, 2026
HiFi sequencing accurately identifies clinically relevant variants in paralogous genesBart van der Sanden, Christian Betz, Katharina Herzog, et al.
American Journal of Medical Genetics. Part A|May 2, 2013
A de novo GLI3 mutation in a patient with acrocallosal syndromeLeonie Speksnijder, Titia E Cohen-Overbeek, Maarten F C M Knapen, et al.
Investigative Ophthalmology & Visual Science|January 1, 2016
Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 GenePanagiotis I Sergouniotis, Martin McKibbin, Anthony G Robson, et al.
Human Molecular Genetics|January 25, 2015
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease geneSolaf M Elsayed, Jennifer B Phillips, Raoul Heller, et al.
Human Molecular Genetics|July 10, 2021
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gatingYongqiang Zhang, Georgios Tachtsidis, Claudia Schob, et al.
Human Molecular Genetics|February 19, 2013
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expressionValeska Frank, Sandra Habbig, Malte P Bartram, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 27, 2019
Biallelic mutation of human <i>SLC6A6</i> encoding the taurine transporter TAUT is linked to early retinal degenerationMarkus N Preising, Boris Görg, Christoph Friedburg, et al.
Elife|September 20, 2015
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)Louise A Stephen, Hasan Tawamie, Gemma M Davis, et al.
Genome Research|November 14, 2024
Haplotype-resolved genome and population genomics of the threatened garden dormouse in EuropePaige A Byerly, Alina von Thaden, Evgeny Leushkin, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and <i>PEX26</i> mutated in Heimler syndromeChristine Neuhaus, Tobias Eisenberger, Christian Decker, et al.
Pageof 15

Showing results (131-140 of 148) with videos related to

Sort By:
Pageof 15
American Journal of Human Genetics|June 4, 2026
HiFi sequencing accurately identifies clinically relevant variants in paralogous genesBart van der Sanden, Christian Betz, Katharina Herzog, et al.
American Journal of Medical Genetics. Part A|May 2, 2013
A de novo GLI3 mutation in a patient with acrocallosal syndromeLeonie Speksnijder, Titia E Cohen-Overbeek, Maarten F C M Knapen, et al.
Investigative Ophthalmology & Visual Science|January 1, 2016
Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 GenePanagiotis I Sergouniotis, Martin McKibbin, Anthony G Robson, et al.
Human Molecular Genetics|January 25, 2015
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease geneSolaf M Elsayed, Jennifer B Phillips, Raoul Heller, et al.
Human Molecular Genetics|July 10, 2021
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gatingYongqiang Zhang, Georgios Tachtsidis, Claudia Schob, et al.
Human Molecular Genetics|February 19, 2013
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expressionValeska Frank, Sandra Habbig, Malte P Bartram, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 27, 2019
Biallelic mutation of human <i>SLC6A6</i> encoding the taurine transporter TAUT is linked to early retinal degenerationMarkus N Preising, Boris Görg, Christoph Friedburg, et al.
Elife|September 20, 2015
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)Louise A Stephen, Hasan Tawamie, Gemma M Davis, et al.
Genome Research|November 14, 2024
Haplotype-resolved genome and population genomics of the threatened garden dormouse in EuropePaige A Byerly, Alina von Thaden, Evgeny Leushkin, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and <i>PEX26</i> mutated in Heimler syndromeChristine Neuhaus, Tobias Eisenberger, Christian Decker, et al.
Pageof 15