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Dominik Seelow

Showing results (41-50 of 62) with videos related to

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Genome Research|October 29, 2013
Improved exome prioritization of disease genes through cross-species phenotype comparisonPeter N Robinson, Sebastian Köhler, Anika Oellrich, et al.
Scientific Reports|May 14, 2021
SIGLEC1 (CD169): a marker of active neuroinflammation in the brain but not in the blood of multiple sclerosis patientsLennard Ostendorf, Philipp Dittert, Robert Biesen, et al.
European Journal of Medical Genetics|February 10, 2018
Harmonising phenomics information for a better interoperability in the rare disease fieldSylvie Maiella, Annie Olry, Marc Hanauer, et al.
Human Genetics|April 9, 2024
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophyJohannes Kopp, Leonard A Koch, Hristiana Lyubenova, et al.
Circulation|May 14, 2003
Genome-wide array analysis of normal and malformed human heartsBogac Kaynak, Anja von Heydebreck, Siegrun Mebus, et al.
Journal of Medical Genetics|August 11, 2021
Biallelic truncating variants in <i>ATP9A</i> cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thriveGuido Vogt, Sarah Verheyen, Sarina Schwartzmann, et al.
NPJ Genomic Medicine|April 3, 2026
A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omicsFelix Boschann, Johannes Kopp, Susanne Römer, et al.
Nature Genetics|July 10, 2007
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosisMassimo Attanasio, N Henriette Uhlenhaut, Vitor H Sousa, et al.
Nucleic Acids Research|May 20, 2024
REEV: review, evaluate and explain variantsDzmitry Hramyka, Henrike Lisa Sczakiel, Max Xiaohang Zhao, et al.
American Journal of Human Genetics|February 7, 2008
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disordersAnne Michalk, Sigmar Stricker, Jutta Becker, et al.
Pageof 7

Showing results (41-50 of 62) with videos related to

Sort By:
Pageof 7
Genome Research|October 29, 2013
Improved exome prioritization of disease genes through cross-species phenotype comparisonPeter N Robinson, Sebastian Köhler, Anika Oellrich, et al.
Scientific Reports|May 14, 2021
SIGLEC1 (CD169): a marker of active neuroinflammation in the brain but not in the blood of multiple sclerosis patientsLennard Ostendorf, Philipp Dittert, Robert Biesen, et al.
European Journal of Medical Genetics|February 10, 2018
Harmonising phenomics information for a better interoperability in the rare disease fieldSylvie Maiella, Annie Olry, Marc Hanauer, et al.
Human Genetics|April 9, 2024
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophyJohannes Kopp, Leonard A Koch, Hristiana Lyubenova, et al.
Circulation|May 14, 2003
Genome-wide array analysis of normal and malformed human heartsBogac Kaynak, Anja von Heydebreck, Siegrun Mebus, et al.
Journal of Medical Genetics|August 11, 2021
Biallelic truncating variants in <i>ATP9A</i> cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thriveGuido Vogt, Sarah Verheyen, Sarina Schwartzmann, et al.
NPJ Genomic Medicine|April 3, 2026
A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omicsFelix Boschann, Johannes Kopp, Susanne Römer, et al.
Nature Genetics|July 10, 2007
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosisMassimo Attanasio, N Henriette Uhlenhaut, Vitor H Sousa, et al.
Nucleic Acids Research|May 20, 2024
REEV: review, evaluate and explain variantsDzmitry Hramyka, Henrike Lisa Sczakiel, Max Xiaohang Zhao, et al.
American Journal of Human Genetics|February 7, 2008
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disordersAnne Michalk, Sigmar Stricker, Jutta Becker, et al.
Pageof 7