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F Hoffmann

Showing results (981-990 of 1,073) with videos related to

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Biochimica Et Biophysica Acta|April 6, 2010
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patientsAndré B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, et al.
ACS Infectious Diseases|April 2, 2021
Structural Requirements for Dihydrobenzoxazepinone Anthelmintics: Actions against Medically Important and Model Parasites: <i>Trichuris muris</i>, <i>Brugia malayi</i>, <i>Heligmosomoides polygyrus</i>, and <i>Schistosoma mansoni</i>Frederick A Partridge, Carole J R Bataille, Ruth Forman, et al.
Pediatrics|July 3, 2024
Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn ScreeningKatharina Mengler, Sven F Garbade, Florian Gleich, et al.
Molecular Genetics and Metabolism|February 4, 2018
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDGBianca Dimitrov, Nastassja Himmelreich, Agnes L Hipgrave Ederveen, et al.
Nature Communications|April 3, 2023
Pulmonary inflammation promoted by type-2 dendritic cells is a feature of human and murine schistosomiasisE L Houlder, A H Costain, I Nambuya, 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.
Journal of Inherited Metabolic Disease|January 26, 2021
Newborn screening and disease variants predict neurological outcome in isovaleric aciduriaUlrike Mütze, Lucy Henze, Florian Gleich, et al.
Journal of Inherited Metabolic Disease|August 21, 2023
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samplesEsther M Maier, Ulrike Mütze, Nils Janzen, et al.
Neurology|May 28, 2010
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiencyL Brun, L H Ngu, W T Keng, 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.
Pageof 108

Showing results (981-990 of 1,073) with videos related to

Sort By:
Pageof 108
Biochimica Et Biophysica Acta|April 6, 2010
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patientsAndré B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, et al.
ACS Infectious Diseases|April 2, 2021
Structural Requirements for Dihydrobenzoxazepinone Anthelmintics: Actions against Medically Important and Model Parasites: <i>Trichuris muris</i>, <i>Brugia malayi</i>, <i>Heligmosomoides polygyrus</i>, and <i>Schistosoma mansoni</i>Frederick A Partridge, Carole J R Bataille, Ruth Forman, et al.
Pediatrics|July 3, 2024
Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn ScreeningKatharina Mengler, Sven F Garbade, Florian Gleich, et al.
Molecular Genetics and Metabolism|February 4, 2018
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDGBianca Dimitrov, Nastassja Himmelreich, Agnes L Hipgrave Ederveen, et al.
Nature Communications|April 3, 2023
Pulmonary inflammation promoted by type-2 dendritic cells is a feature of human and murine schistosomiasisE L Houlder, A H Costain, I Nambuya, 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.
Journal of Inherited Metabolic Disease|January 26, 2021
Newborn screening and disease variants predict neurological outcome in isovaleric aciduriaUlrike Mütze, Lucy Henze, Florian Gleich, et al.
Journal of Inherited Metabolic Disease|August 21, 2023
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samplesEsther M Maier, Ulrike Mütze, Nils Janzen, et al.
Neurology|May 28, 2010
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiencyL Brun, L H Ngu, W T Keng, 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.
Pageof 108