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Georg F Hoffmann

Showing results (311-320 of 381) with videos related to

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Annals of Neurology|May 26, 2022
Integrative Approach to Predict Severity in Nonketotic HyperglycinemiaOya Kuseyri Hübschmann, Natalia Alexandra Juliá-Palacios, Mireia Olivella, et al.
Journal of Inherited Metabolic Disease|July 2, 2024
MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deteriorationNicole Hammann, Dominic Lenz, Alyssa Bianzano, et al.
Journal of Inherited Metabolic Disease|April 2, 2024
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinuriasAnna T Reischl-Hajiabadi, Elena Schnabel, Florian Gleich, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseasesRoland Posset, Sven F Garbade, Nikolas Boy, et al.
European Journal of Human Genetics : EJHG|January 12, 2022
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsiesJulian Schröter, Bernt Popp, Heiko Brennenstuhl, 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.
Pageof 39

Showing results (311-320 of 381) with videos related to

Sort By:
Pageof 39
Annals of Neurology|May 26, 2022
Integrative Approach to Predict Severity in Nonketotic HyperglycinemiaOya Kuseyri Hübschmann, Natalia Alexandra Juliá-Palacios, Mireia Olivella, et al.
Journal of Inherited Metabolic Disease|July 2, 2024
MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deteriorationNicole Hammann, Dominic Lenz, Alyssa Bianzano, et al.
Journal of Inherited Metabolic Disease|April 2, 2024
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinuriasAnna T Reischl-Hajiabadi, Elena Schnabel, Florian Gleich, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseasesRoland Posset, Sven F Garbade, Nikolas Boy, et al.
European Journal of Human Genetics : EJHG|January 12, 2022
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsiesJulian Schröter, Bernt Popp, Heiko Brennenstuhl, 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.
Pageof 39