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Georg F Hoffmann

Showing results (101-110 of 381) with videos related to

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Orphanet Journal of Rare Diseases|April 10, 2019
High blood pressure, a red flag for the neonatal manifestation of urea cycle disordersUlrike Teufel, Peter Burgard, Jochen Meyburg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 21, 2020
Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathiesJulian Schröter, Jan H Döring, Sven F Garbade, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2017
Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolismJessica J Y Lee, Wyeth W Wasserman, Georg F Hoffmann, et al.
World Journal of Pediatrics : WJP|June 28, 2018
High incidence of maternal vitamin B<sub>12</sub> deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panelGwendolyn Gramer, Junmin Fang-Hoffmann, Patrik Feyh, et al.
Pediatrics|November 29, 2002
Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in GermanyDaniela A Klose, Stefan Kölker, Beate Heinrich, et al.
Journal of Inherited Metabolic Disease|November 24, 2016
Analysis of the functional muscle-bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomographyDaniela Choukair, Carolin Kneppo, Reinhard Feneberg, et al.
Molecular Genetics and Metabolism|March 25, 2025
Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updatedDakota J S J Peacock, Carlos R Ferreira, Gabriella Horvath, et al.
Orphanet Journal of Rare Diseases|December 5, 2024
Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published casesOliver Y Urban, Jan H Driedger, Sven F Garbade, et al.
Pediatric Pulmonology|November 29, 2022
German newborn screening for Cystic fibrosis: Parental perspectives and suggestions for improvementsSimon Gapp, Sven F Garbade, Patrik Feyh, et al.
Molecular Genetics and Metabolism|November 17, 2022
Detection of early cardiac disease manifestation in propionic acidemia - Results of a monocentric cross-sectional studyAlexander Kovacevic, Sven F Garbade, Friederike Hörster, et al.
Pageof 39

Showing results (101-110 of 381) with videos related to

Sort By:
Pageof 39
Orphanet Journal of Rare Diseases|April 10, 2019
High blood pressure, a red flag for the neonatal manifestation of urea cycle disordersUlrike Teufel, Peter Burgard, Jochen Meyburg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 21, 2020
Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathiesJulian Schröter, Jan H Döring, Sven F Garbade, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2017
Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolismJessica J Y Lee, Wyeth W Wasserman, Georg F Hoffmann, et al.
World Journal of Pediatrics : WJP|June 28, 2018
High incidence of maternal vitamin B<sub>12</sub> deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panelGwendolyn Gramer, Junmin Fang-Hoffmann, Patrik Feyh, et al.
Pediatrics|November 29, 2002
Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in GermanyDaniela A Klose, Stefan Kölker, Beate Heinrich, et al.
Journal of Inherited Metabolic Disease|November 24, 2016
Analysis of the functional muscle-bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomographyDaniela Choukair, Carolin Kneppo, Reinhard Feneberg, et al.
Molecular Genetics and Metabolism|March 25, 2025
Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updatedDakota J S J Peacock, Carlos R Ferreira, Gabriella Horvath, et al.
Orphanet Journal of Rare Diseases|December 5, 2024
Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published casesOliver Y Urban, Jan H Driedger, Sven F Garbade, et al.
Pediatric Pulmonology|November 29, 2022
German newborn screening for Cystic fibrosis: Parental perspectives and suggestions for improvementsSimon Gapp, Sven F Garbade, Patrik Feyh, et al.
Molecular Genetics and Metabolism|November 17, 2022
Detection of early cardiac disease manifestation in propionic acidemia - Results of a monocentric cross-sectional studyAlexander Kovacevic, Sven F Garbade, Friederike Hörster, et al.
Pageof 39