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Peter Nürnberg

Showing results (141-150 of 517) with videos related to

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American Journal of Medical Genetics. Part A|March 11, 2021
Clinical and genetic characterization of PYROXD1-related myopathy patients from TurkeyHülya-Sevcan Daimagüler, Ugur Akpulat, Özkan Özdemir, et al.
Human Mutation|February 16, 2007
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunctionInga Ebermann, Martin Walger, Hendrik P N Scholl, et al.
European Journal of Human Genetics : EJHG|July 11, 2013
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutationsSolaf M Elsayed, Raoul Heller, Michaela Thoenes, et al.
Stem Cells Translational Medicine|April 30, 2019
Human Adipose-Derived Mesenchymal Stem Cells Modify Lung Immunity and Improve Antibacterial Defense in Pneumosepsis Caused by Klebsiella pneumoniaeDesiree Perlee, Alex F de Vos, Brendon P Scicluna, et al.
Plos One|May 31, 2017
The association of mannose-binding lectin 2 polymorphisms with outcome in very low birth weight infantsAnnika Hartz, Julia Pagel, Alexander Humberg, et al.
Human Molecular Genetics|April 4, 2015
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instabilityNadine Rosin, Nursel H Elcioglu, Filippo Beleggia, et al.
American Journal of Medical Genetics. Part A|July 2, 2015
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromesBenjamin Gollasch, Fitnat Buket Basmanav, Arti Nanda, et al.
American Journal of Medical Genetics. Part A|August 19, 2006
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardationAnita Rauch, Juliane Hoyer, Sabine Guth, et al.
Human Molecular Genetics|February 11, 2005
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11Udo zur Stadt, Susanne Schmidt, Brigitte Kasper, et al.
American Journal of Primatology|June 3, 2015
Genetic studies on the Cayo Santiago rhesus macaques: A review of 40 years of researchAnja Widdig, Matthew J Kessler, Fred B Bercovitch, et al.
Pageof 52

Showing results (141-150 of 517) with videos related to

Sort By:
Pageof 52
American Journal of Medical Genetics. Part A|March 11, 2021
Clinical and genetic characterization of PYROXD1-related myopathy patients from TurkeyHülya-Sevcan Daimagüler, Ugur Akpulat, Özkan Özdemir, et al.
Human Mutation|February 16, 2007
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunctionInga Ebermann, Martin Walger, Hendrik P N Scholl, et al.
European Journal of Human Genetics : EJHG|July 11, 2013
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutationsSolaf M Elsayed, Raoul Heller, Michaela Thoenes, et al.
Stem Cells Translational Medicine|April 30, 2019
Human Adipose-Derived Mesenchymal Stem Cells Modify Lung Immunity and Improve Antibacterial Defense in Pneumosepsis Caused by Klebsiella pneumoniaeDesiree Perlee, Alex F de Vos, Brendon P Scicluna, et al.
Plos One|May 31, 2017
The association of mannose-binding lectin 2 polymorphisms with outcome in very low birth weight infantsAnnika Hartz, Julia Pagel, Alexander Humberg, et al.
Human Molecular Genetics|April 4, 2015
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instabilityNadine Rosin, Nursel H Elcioglu, Filippo Beleggia, et al.
American Journal of Medical Genetics. Part A|July 2, 2015
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromesBenjamin Gollasch, Fitnat Buket Basmanav, Arti Nanda, et al.
American Journal of Medical Genetics. Part A|August 19, 2006
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardationAnita Rauch, Juliane Hoyer, Sabine Guth, et al.
Human Molecular Genetics|February 11, 2005
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11Udo zur Stadt, Susanne Schmidt, Brigitte Kasper, et al.
American Journal of Primatology|June 3, 2015
Genetic studies on the Cayo Santiago rhesus macaques: A review of 40 years of researchAnja Widdig, Matthew J Kessler, Fred B Bercovitch, et al.
Pageof 52