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F Hoffmann

Showing results (971-980 of 1,073) with videos related to

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Acta Paediatrica (Oslo, Norway : 1992)|November 26, 2016
Rapid test for lung maturity, based on spectroscopy of gastric aspirate, predicted respiratory distress syndrome with high sensitivityHenrik Verder, Christian Heiring, Howard Clark, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2018
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)Dominic Lenz, Patricia McClean, Aydan Kansu, et al.
Human Molecular Genetics|September 24, 2004
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalitiesAndré B P van Kuilenburg, Rutger Meinsma, Eva Beke, et al.
The Lancet. Neurology|November 30, 2010
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental studyManju A Kurian, Yan Li, Juan Zhen, et al.
Human Mutation|May 9, 2019
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminusNastassja Himmelreich, Bianca Dimitrov, Virginia Geiger, et al.
Journal of Clinical Immunology|August 13, 2021
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell DeficiencyDominic Lenz, Jens Pahl, Fabian Hauck, et al.
Annals of Neurology|April 18, 2018
Newborn screening: A disease-changing intervention for glutaric aciduria type 1Nikolas Boy, Katharina Mengler, Eva Thimm, et al.
Orphanet Journal of Rare Diseases|May 5, 2019
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective studyAfshin Saffari, Ines Brösse, Adelheid Wiemer-Kruel, et al.
Journal of Inherited Metabolic Disease|July 10, 2023
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatmentUlrike Mütze, Lucy Henze, Julian Schröter, et al.
Scientific Reports|September 30, 2021
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up studyE M Charlotte Märtner, Eva Thimm, Philipp Guder, et al.
Pageof 108

Showing results (971-980 of 1,073) with videos related to

Sort By:
Pageof 108
Acta Paediatrica (Oslo, Norway : 1992)|November 26, 2016
Rapid test for lung maturity, based on spectroscopy of gastric aspirate, predicted respiratory distress syndrome with high sensitivityHenrik Verder, Christian Heiring, Howard Clark, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2018
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)Dominic Lenz, Patricia McClean, Aydan Kansu, et al.
Human Molecular Genetics|September 24, 2004
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalitiesAndré B P van Kuilenburg, Rutger Meinsma, Eva Beke, et al.
The Lancet. Neurology|November 30, 2010
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental studyManju A Kurian, Yan Li, Juan Zhen, et al.
Human Mutation|May 9, 2019
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminusNastassja Himmelreich, Bianca Dimitrov, Virginia Geiger, et al.
Journal of Clinical Immunology|August 13, 2021
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell DeficiencyDominic Lenz, Jens Pahl, Fabian Hauck, et al.
Annals of Neurology|April 18, 2018
Newborn screening: A disease-changing intervention for glutaric aciduria type 1Nikolas Boy, Katharina Mengler, Eva Thimm, et al.
Orphanet Journal of Rare Diseases|May 5, 2019
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective studyAfshin Saffari, Ines Brösse, Adelheid Wiemer-Kruel, et al.
Journal of Inherited Metabolic Disease|July 10, 2023
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatmentUlrike Mütze, Lucy Henze, Julian Schröter, et al.
Scientific Reports|September 30, 2021
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up studyE M Charlotte Märtner, Eva Thimm, Philipp Guder, et al.
Pageof 108