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Showing results (491-500 of 555) with videos related to

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Human Mutation|September 15, 2017
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathySaskia B Wortmann, Sharita Timal, Hanka Venselaar, et al.
International Journal of Radiation Oncology, Biology, Physics|October 12, 2014
Comparison and consensus guidelines for delineation of clinical target volume for CT- and MR-based brachytherapy in locally advanced cervical cancerAkila N Viswanathan, Beth Erickson, David K Gaffney, et al.
American Journal of Human Genetics|July 19, 2016
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile HepatopathyRobert Kopajtich, Kei Murayama, Andreas R Janecke, et al.
Science (New York, N.Y.)|July 11, 2009
Discovery of swine as a host for the Reston ebolavirusRoger W Barrette, Samia A Metwally, Jessica M Rowland, et al.
Molecular Genetics and Metabolism|January 28, 2014
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screeningTobias B Haack, Matteo Gorza, Katharina Danhauser, et al.
Journal of Medical Genetics|April 14, 2012
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencingTobias B Haack, Birgit Haberberger, Eva-Maria Frisch, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|May 27, 2021
A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouseCaroline A Biagosch, Silvia Vidali, Michael Faerberboeck, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 18, 2021
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiencySaskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, et al.
Neuropediatrics|June 26, 2018
PRUNE1 Deficiency: Expanding the Clinical and Genetic SpectrumBader Alhaddad, Anna Schossig, Tobias B Haack, et al.
Journal of Inherited Metabolic Disease|April 15, 2015
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutationsMartina Huemer, Daniela Karall, Anna Schossig, et al.
Pageof 56

Showing results (491-500 of 555) with videos related to

Sort By:
Pageof 56
Human Mutation|September 15, 2017
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathySaskia B Wortmann, Sharita Timal, Hanka Venselaar, et al.
International Journal of Radiation Oncology, Biology, Physics|October 12, 2014
Comparison and consensus guidelines for delineation of clinical target volume for CT- and MR-based brachytherapy in locally advanced cervical cancerAkila N Viswanathan, Beth Erickson, David K Gaffney, et al.
American Journal of Human Genetics|July 19, 2016
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile HepatopathyRobert Kopajtich, Kei Murayama, Andreas R Janecke, et al.
Science (New York, N.Y.)|July 11, 2009
Discovery of swine as a host for the Reston ebolavirusRoger W Barrette, Samia A Metwally, Jessica M Rowland, et al.
Molecular Genetics and Metabolism|January 28, 2014
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screeningTobias B Haack, Matteo Gorza, Katharina Danhauser, et al.
Journal of Medical Genetics|April 14, 2012
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencingTobias B Haack, Birgit Haberberger, Eva-Maria Frisch, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|May 27, 2021
A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouseCaroline A Biagosch, Silvia Vidali, Michael Faerberboeck, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 18, 2021
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiencySaskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, et al.
Neuropediatrics|June 26, 2018
PRUNE1 Deficiency: Expanding the Clinical and Genetic SpectrumBader Alhaddad, Anna Schossig, Tobias B Haack, et al.
Journal of Inherited Metabolic Disease|April 15, 2015
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutationsMartina Huemer, Daniela Karall, Anna Schossig, et al.
Pageof 56