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Christian Hamel

Showing results (61-70 of 74) with videos related to

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European Journal of Human Genetics : EJHG|March 17, 2005
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohortHaifa Hichri, Corinne Stoetzel, Virginie Laurier, et al.
Human Molecular Genetics|April 3, 2017
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2Stylianos Michalakis, Lior Shaltiel, Vithiyanjali Sothilingam, et al.
Human Molecular Genetics|October 29, 2013
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2Stylianos Michalakis, Lior Shaltiel, Vithiyanjali Sothilingam, et al.
Investigative Ophthalmology & Visual Science|February 5, 2017
Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ MiceJuan Manuel Chao de la Barca, Gilles Simard, Emmanuelle Sarzi, et al.
Nature Genetics|July 31, 2012
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophyIsabelle Perrault, Sylvain Hanein, Xavier Zanlonghi, et al.
American Journal of Human Genetics|December 13, 2006
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndromeCorinne Stoetzel, Jean Muller, Virginie Laurier, et al.
The Journal of Clinical Investigation|September 25, 2019
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathyCamille Piro-Mégy, Emmanuelle Sarzi, Aleix Tarrés-Solé, et al.
Clinical Chemistry|December 7, 2018
Inflammatory Biomarkers and Clinical Judgment in the Emergency Diagnosis of Urgent Abdominal PainTobias Breidthardt, Nora Brunner-Schaub, Catharina Balmelli, et al.
Human Genetics|January 7, 2018
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementLisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
Human Genetics|February 14, 2018
Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementLisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
Pageof 8

Showing results (61-70 of 74) with videos related to

Sort By:
Pageof 8
European Journal of Human Genetics : EJHG|March 17, 2005
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohortHaifa Hichri, Corinne Stoetzel, Virginie Laurier, et al.
Human Molecular Genetics|April 3, 2017
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2Stylianos Michalakis, Lior Shaltiel, Vithiyanjali Sothilingam, et al.
Human Molecular Genetics|October 29, 2013
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2Stylianos Michalakis, Lior Shaltiel, Vithiyanjali Sothilingam, et al.
Investigative Ophthalmology & Visual Science|February 5, 2017
Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ MiceJuan Manuel Chao de la Barca, Gilles Simard, Emmanuelle Sarzi, et al.
Nature Genetics|July 31, 2012
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophyIsabelle Perrault, Sylvain Hanein, Xavier Zanlonghi, et al.
American Journal of Human Genetics|December 13, 2006
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndromeCorinne Stoetzel, Jean Muller, Virginie Laurier, et al.
The Journal of Clinical Investigation|September 25, 2019
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathyCamille Piro-Mégy, Emmanuelle Sarzi, Aleix Tarrés-Solé, et al.
Clinical Chemistry|December 7, 2018
Inflammatory Biomarkers and Clinical Judgment in the Emergency Diagnosis of Urgent Abdominal PainTobias Breidthardt, Nora Brunner-Schaub, Catharina Balmelli, et al.
Human Genetics|January 7, 2018
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementLisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
Human Genetics|February 14, 2018
Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementLisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
Pageof 8