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Georg F Hoffmann

Showing results (251-260 of 381) with videos related to

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Medical Teacher|March 11, 2017
Electronic assessment of clinical reasoning in clerkships: A mixed-methods comparison of long-menu key-feature problems with context-rich single best answer questionsSören Huwendiek, Friedrich Reichert, Cecilia Duncker, et al.
Scientific Reports|August 28, 2019
Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolismOsama Y Al-Dirbashi, Majid Alfadhel, Khalid Al-Thihli, et al.
Molecular Genetics and Metabolism|February 1, 2024
Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculationsAnna T Reischl-Hajiabadi, Jürgen G Okun, Dirk Kohlmüller, et al.
Hormone Research in Paediatrics|May 20, 2020
Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary HypothyroidismDaniela Choukair, Birgit Eberle, Philipp Vick, et al.
Brain : a Journal of Neurology|May 13, 2009
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type IInga Harting, Eva Neumaier-Probst, Angelika Seitz, et al.
Molecular Genetics and Metabolism|April 24, 2012
Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experienceStefan Kölker, S P Nikolas Boy, Jana Heringer, et al.
Nutrients|August 12, 2023
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and HomocystinuriaElena Schnabel, Stefan Kölker, Florian Gleich, et al.
American Journal of Human Genetics|November 13, 2012
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduriaKatharina Danhauser, Sven W Sauer, Tobias B Haack, et al.
Disease Models & Mechanisms|October 9, 2025
SCYL1 deficiency in CALFAN syndrome is associated with ER stress and cell deathJohn Hellicar, Tal Dattner, Tian Sun, et al.
Human Mutation|April 17, 2009
Molecular neonatal screening for homocystinuria in the Qatari populationJohannes Zschocke, Moustafa Kebbewar, Hongying Gan-Schreier, et al.
Pageof 39

Showing results (251-260 of 381) with videos related to

Sort By:
Pageof 39
Medical Teacher|March 11, 2017
Electronic assessment of clinical reasoning in clerkships: A mixed-methods comparison of long-menu key-feature problems with context-rich single best answer questionsSören Huwendiek, Friedrich Reichert, Cecilia Duncker, et al.
Scientific Reports|August 28, 2019
Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolismOsama Y Al-Dirbashi, Majid Alfadhel, Khalid Al-Thihli, et al.
Molecular Genetics and Metabolism|February 1, 2024
Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculationsAnna T Reischl-Hajiabadi, Jürgen G Okun, Dirk Kohlmüller, et al.
Hormone Research in Paediatrics|May 20, 2020
Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary HypothyroidismDaniela Choukair, Birgit Eberle, Philipp Vick, et al.
Brain : a Journal of Neurology|May 13, 2009
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type IInga Harting, Eva Neumaier-Probst, Angelika Seitz, et al.
Molecular Genetics and Metabolism|April 24, 2012
Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experienceStefan Kölker, S P Nikolas Boy, Jana Heringer, et al.
Nutrients|August 12, 2023
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and HomocystinuriaElena Schnabel, Stefan Kölker, Florian Gleich, et al.
American Journal of Human Genetics|November 13, 2012
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduriaKatharina Danhauser, Sven W Sauer, Tobias B Haack, et al.
Disease Models & Mechanisms|October 9, 2025
SCYL1 deficiency in CALFAN syndrome is associated with ER stress and cell deathJohn Hellicar, Tal Dattner, Tian Sun, et al.
Human Mutation|April 17, 2009
Molecular neonatal screening for homocystinuria in the Qatari populationJohannes Zschocke, Moustafa Kebbewar, Hongying Gan-Schreier, et al.
Pageof 39