Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Jochen Hecht

Showing results (71-80 of 87) with videos related to

Pageof 9
Sort By:
Cell|May 12, 2015
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactionsDarío G Lupiáñez, Katerina Kraft, Verena Heinrich, et al.
Nature Communications|December 24, 2014
European sea bass genome and its variation provide insights into adaptation to euryhalinity and speciationMbaye Tine, Heiner Kuhl, Pierre-Alexandre Gagnaire, et al.
Brain : a Journal of Neurology|January 25, 2014
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3Uwe Kornak, Inès Mademan, Marte Schinke, et al.
American Journal of Human Genetics|January 21, 2014
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardationMalcolm F Howard, Yoshiko Murakami, Alistair T Pagnamenta, et al.
Science Translational Medicine|September 5, 2014
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genomeTomasz Zemojtel, Sebastian Köhler, Luisa Mackenroth, et al.
American Journal of Human Genetics|December 7, 2014
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndromeNadja Ehmke, Almuth Caliebe, Rainer Koenig, et al.
Leukemia|March 8, 2019
PAX5 biallelic genomic alterations define a novel subgroup of B-cell precursor acute lymphoblastic leukemiaLorenz Bastian, Michael P Schroeder, Cornelia Eckert, et al.
The Journal of Experimental Medicine|February 27, 2013
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndromeDaniel Kotlarz, Natalia Ziętara, Gulbu Uzel, et al.
Nature Genetics|August 31, 2010
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromePeter M Krawitz, Michal R Schweiger, Christian Rödelsperger, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial DysfunctionNadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, et al.
Pageof 9

Showing results (71-80 of 87) with videos related to

Sort By:
Pageof 9
Cell|May 12, 2015
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactionsDarío G Lupiáñez, Katerina Kraft, Verena Heinrich, et al.
Nature Communications|December 24, 2014
European sea bass genome and its variation provide insights into adaptation to euryhalinity and speciationMbaye Tine, Heiner Kuhl, Pierre-Alexandre Gagnaire, et al.
Brain : a Journal of Neurology|January 25, 2014
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3Uwe Kornak, Inès Mademan, Marte Schinke, et al.
American Journal of Human Genetics|January 21, 2014
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardationMalcolm F Howard, Yoshiko Murakami, Alistair T Pagnamenta, et al.
Science Translational Medicine|September 5, 2014
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genomeTomasz Zemojtel, Sebastian Köhler, Luisa Mackenroth, et al.
American Journal of Human Genetics|December 7, 2014
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndromeNadja Ehmke, Almuth Caliebe, Rainer Koenig, et al.
Leukemia|March 8, 2019
PAX5 biallelic genomic alterations define a novel subgroup of B-cell precursor acute lymphoblastic leukemiaLorenz Bastian, Michael P Schroeder, Cornelia Eckert, et al.
The Journal of Experimental Medicine|February 27, 2013
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndromeDaniel Kotlarz, Natalia Ziętara, Gulbu Uzel, et al.
Nature Genetics|August 31, 2010
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromePeter M Krawitz, Michal R Schweiger, Christian Rödelsperger, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial DysfunctionNadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, et al.
Pageof 9