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B Wortmann

Showing results (151-160 of 205) with videos related to

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Neuropediatrics|February 3, 2015
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndromeSaskia B Wortmann, Peter M van Hasselt, Ivo Barić, et al.
Annals of Clinical and Translational Neurology|October 18, 2021
Expanding the phenotypic spectrum of BCS1L-related mitochondrial diseaseOmar Hikmat, Pirjo Isohanni, Nandaki Keshavan, et al.
Molecular Genetics and Metabolism|May 11, 2024
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1bSarah C Grünert, Matthias Gautschi, Joshua Baker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2021
Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiencySaskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 18, 2021
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiencySaskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, et al.
Journal of Inherited Metabolic Disease|February 18, 2018
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patientsKarlien L M Coene, Leo A J Kluijtmans, Ed van der Heeft, et al.
Journal of Inherited Metabolic Disease|April 15, 2015
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutationsMartina Huemer, Daniela Karall, Anna Schossig, et al.
Journal of Inherited Metabolic Disease|January 18, 2023
MOGS-CDG: Quantitative analysis of the diagnostic Glc<sub>3</sub> Man tetrasaccharide and clinical spectrum of six new casesMerel A Post, Isis de Wit, Fokje S M Zijlstra, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 19, 2020
Galactokinase deficiency: lessons from the GalNet registryM Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, et al.
Journal of Inherited Metabolic Disease|May 4, 2022
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniquesSaskia B Wortmann, Machteld M Oud, Mariëlle Alders, et al.
Pageof 21

Showing results (151-160 of 205) with videos related to

Sort By:
Pageof 21
Neuropediatrics|February 3, 2015
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndromeSaskia B Wortmann, Peter M van Hasselt, Ivo Barić, et al.
Annals of Clinical and Translational Neurology|October 18, 2021
Expanding the phenotypic spectrum of BCS1L-related mitochondrial diseaseOmar Hikmat, Pirjo Isohanni, Nandaki Keshavan, et al.
Molecular Genetics and Metabolism|May 11, 2024
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1bSarah C Grünert, Matthias Gautschi, Joshua Baker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2021
Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiencySaskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 18, 2021
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiencySaskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, et al.
Journal of Inherited Metabolic Disease|February 18, 2018
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patientsKarlien L M Coene, Leo A J Kluijtmans, Ed van der Heeft, et al.
Journal of Inherited Metabolic Disease|April 15, 2015
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutationsMartina Huemer, Daniela Karall, Anna Schossig, et al.
Journal of Inherited Metabolic Disease|January 18, 2023
MOGS-CDG: Quantitative analysis of the diagnostic Glc<sub>3</sub> Man tetrasaccharide and clinical spectrum of six new casesMerel A Post, Isis de Wit, Fokje S M Zijlstra, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 19, 2020
Galactokinase deficiency: lessons from the GalNet registryM Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, et al.
Journal of Inherited Metabolic Disease|May 4, 2022
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniquesSaskia B Wortmann, Machteld M Oud, Mariëlle Alders, et al.
Pageof 21