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

Peter Nürnberg

Showing results (51-60 of 517) with videos related to

Pageof 52
Sort By:
American Journal of Medical Genetics. Part A|October 19, 2016
Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicismShahida Moosa, Helena Böhrer-Rabel, Janine Altmüller, et al.
American Journal of Human Genetics|February 29, 2008
Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuriaBarbara Kloeckener-Gruissem, Kristof Vandekerckhove, Gudrun Nürnberg, et al.
American Journal of Medical Genetics. Part A|August 18, 2017
A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathySusann Weissbach, Marie-Christine Reinert, Janine Altmüller, et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology|April 27, 2004
Association of the serum and glucocorticoid regulated kinase (sgk1) gene with QT intervalAndreas Busjahn, Guiscard Seebohm, Gottlieb Maier, et al.
Canine Genetics and Epidemiology|July 12, 2016
A large deletion in RPGR causes XLPRA in Weimaraner dogsRegina Kropatsch, Denis A Akkad, Matthias Frank, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Novel compound heterozygous mutations in <i>TELO2</i> in a patient with severe expression of You-Hoover-Fong syndromeShahida Moosa, Janine Altmüller, Troels Lyngbye, et al.
Plos One|December 22, 2006
Genes from Chagas susceptibility loci that are differentially expressed in T. cruzi-resistant mice are candidates accounting for impaired immunitySebastian E B Graefe, Thomas Streichert, Birgit S Budde, et al.
Journal of Molecular Medicine (Berlin, Germany)|October 13, 2006
De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial diseaseAnja Brinckmann, Klaus Rüther, Kathleen Williamson, et al.
American Journal of Medical Genetics. Part A|August 18, 2016
An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucityNina Bögershausen, Umut Altunoglu, Filippo Beleggia, et al.
International Journal of Molecular Medicine|March 25, 2008
Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mappingGudrun Nürnberg, Felix K Jacobi, Martina Broghammer, et al.
Pageof 52

Showing results (51-60 of 517) with videos related to

Sort By:
Pageof 52
American Journal of Medical Genetics. Part A|October 19, 2016
Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicismShahida Moosa, Helena Böhrer-Rabel, Janine Altmüller, et al.
American Journal of Human Genetics|February 29, 2008
Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuriaBarbara Kloeckener-Gruissem, Kristof Vandekerckhove, Gudrun Nürnberg, et al.
American Journal of Medical Genetics. Part A|August 18, 2017
A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathySusann Weissbach, Marie-Christine Reinert, Janine Altmüller, et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology|April 27, 2004
Association of the serum and glucocorticoid regulated kinase (sgk1) gene with QT intervalAndreas Busjahn, Guiscard Seebohm, Gottlieb Maier, et al.
Canine Genetics and Epidemiology|July 12, 2016
A large deletion in RPGR causes XLPRA in Weimaraner dogsRegina Kropatsch, Denis A Akkad, Matthias Frank, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Novel compound heterozygous mutations in <i>TELO2</i> in a patient with severe expression of You-Hoover-Fong syndromeShahida Moosa, Janine Altmüller, Troels Lyngbye, et al.
Plos One|December 22, 2006
Genes from Chagas susceptibility loci that are differentially expressed in T. cruzi-resistant mice are candidates accounting for impaired immunitySebastian E B Graefe, Thomas Streichert, Birgit S Budde, et al.
Journal of Molecular Medicine (Berlin, Germany)|October 13, 2006
De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial diseaseAnja Brinckmann, Klaus Rüther, Kathleen Williamson, et al.
American Journal of Medical Genetics. Part A|August 18, 2016
An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucityNina Bögershausen, Umut Altunoglu, Filippo Beleggia, et al.
International Journal of Molecular Medicine|March 25, 2008
Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mappingGudrun Nürnberg, Felix K Jacobi, Martina Broghammer, et al.
Pageof 52