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Peter Nürnberg

Showing results (81-90 of 517) with videos related to

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Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 3, 2004
Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathySigrid Tinschert, Nico Ruf, Ilenia Bernascone, et al.
Neurology. Genetics|February 24, 2018
Duplications at 19q13.33 in patients with neurodevelopmental disordersEduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, et al.
Investigative Genetics|May 22, 2013
Clinal distribution of human genomic diversity across the Netherlands despite archaeological evidence for genetic discontinuities in Dutch population historyOscar Lao, Eveline Altena, Christian Becker, et al.
Human Molecular Genetics|July 29, 2016
The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interfaceWenke Seifert, York Posor, Peter Schu, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 25, 2004
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvementHolger Thiele, Masahiro Sakano, Hiroshi Kitagawa, et al.
Epilepsia|October 21, 2018
Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsiesLisa-Marie Niestroj, Juanjiangmeng Du, Michael Nothnagel, et al.
European Journal of Medical Genetics|September 20, 2012
A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephalyNaseebullah Kakar, Ingrid Goebel, Shakeela Daud, et al.
Human Mutation|May 3, 2006
GENOMIZER: an integrated analysis system for genome-wide association dataAndre Franke, Andreas Wollstein, Markus Teuber, et al.
British Journal of Clinical Pharmacology|August 29, 2006
Torsemide renal clearance and genetic variation in luminal and basolateral organic anion transportersStefan V Vormfelde, Markus Schirmer, Yohannes Hagos, et al.
Gastroenterology|September 6, 2006
Functional analysis of complex hepatitis B virus variants associated with development of liver cirrhosisStefanie Märschenz, Anne-Sophie Endres, Anja Brinckmann, et al.
Pageof 52

Showing results (81-90 of 517) with videos related to

Sort By:
Pageof 52
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 3, 2004
Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathySigrid Tinschert, Nico Ruf, Ilenia Bernascone, et al.
Neurology. Genetics|February 24, 2018
Duplications at 19q13.33 in patients with neurodevelopmental disordersEduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, et al.
Investigative Genetics|May 22, 2013
Clinal distribution of human genomic diversity across the Netherlands despite archaeological evidence for genetic discontinuities in Dutch population historyOscar Lao, Eveline Altena, Christian Becker, et al.
Human Molecular Genetics|July 29, 2016
The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interfaceWenke Seifert, York Posor, Peter Schu, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 25, 2004
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvementHolger Thiele, Masahiro Sakano, Hiroshi Kitagawa, et al.
Epilepsia|October 21, 2018
Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsiesLisa-Marie Niestroj, Juanjiangmeng Du, Michael Nothnagel, et al.
European Journal of Medical Genetics|September 20, 2012
A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephalyNaseebullah Kakar, Ingrid Goebel, Shakeela Daud, et al.
Human Mutation|May 3, 2006
GENOMIZER: an integrated analysis system for genome-wide association dataAndre Franke, Andreas Wollstein, Markus Teuber, et al.
British Journal of Clinical Pharmacology|August 29, 2006
Torsemide renal clearance and genetic variation in luminal and basolateral organic anion transportersStefan V Vormfelde, Markus Schirmer, Yohannes Hagos, et al.
Gastroenterology|September 6, 2006
Functional analysis of complex hepatitis B virus variants associated with development of liver cirrhosisStefanie Märschenz, Anne-Sophie Endres, Anja Brinckmann, et al.
Pageof 52