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B Wortmann

Showing results (131-140 of 205) with videos related to

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American Journal of Human Genetics|December 24, 2019
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I DeficiencyCharlotte L Alston, Mike T Veling, Juliana Heidler, et al.
Clinical Genetics|June 30, 2025
Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial DiseaseMahmoud R Fassad, Sebastian Valenzuela, Monika Oláhová, et al.
Journal of Neurology|October 29, 2022
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide studyMartin Krenn, Merve Sener, Jakob Rath, et al.
Genome Medicine|April 13, 2021
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypesZheng Yie Yap, Yo Han Park, Saskia B Wortmann, et al.
Journal of Medical Genetics|March 8, 2024
Biallelic variants in Plexin B2 (<i>PLXNB2</i>) cause amelogenesis imperfecta, hearing loss and intellectual disabilityClaire E L Smith, Virginie Laugel-Haushalter, Ummey Hany, et al.
Molecular Genetics and Metabolism|December 21, 2020
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spotsFederica Conte, Eva Morava, Nurulamin Abu Bakar, et al.
Journal of Inherited Metabolic Disease|February 17, 2017
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequencesSaskia B Wortmann, Margaret A Chen, Roberto Colombo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 22, 2020
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementationDaisy Rymen, Martijn Lindhout, Maria Spanou, et al.
Brain : a Journal of Neurology|December 24, 2016
CAD mutations and uridine-responsive epileptic encephalopathyJohannes Koch, Johannes A Mayr, Bader Alhaddad, et al.
Molecular Genetics and Metabolism|June 15, 2024
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processingBlai Morales-Romero, Gerard Muñoz-Pujol, Rafael Artuch, et al.
Pageof 21

Showing results (131-140 of 205) with videos related to

Sort By:
Pageof 21
American Journal of Human Genetics|December 24, 2019
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I DeficiencyCharlotte L Alston, Mike T Veling, Juliana Heidler, et al.
Clinical Genetics|June 30, 2025
Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial DiseaseMahmoud R Fassad, Sebastian Valenzuela, Monika Oláhová, et al.
Journal of Neurology|October 29, 2022
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide studyMartin Krenn, Merve Sener, Jakob Rath, et al.
Genome Medicine|April 13, 2021
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypesZheng Yie Yap, Yo Han Park, Saskia B Wortmann, et al.
Journal of Medical Genetics|March 8, 2024
Biallelic variants in Plexin B2 (<i>PLXNB2</i>) cause amelogenesis imperfecta, hearing loss and intellectual disabilityClaire E L Smith, Virginie Laugel-Haushalter, Ummey Hany, et al.
Molecular Genetics and Metabolism|December 21, 2020
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spotsFederica Conte, Eva Morava, Nurulamin Abu Bakar, et al.
Journal of Inherited Metabolic Disease|February 17, 2017
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequencesSaskia B Wortmann, Margaret A Chen, Roberto Colombo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 22, 2020
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementationDaisy Rymen, Martijn Lindhout, Maria Spanou, et al.
Brain : a Journal of Neurology|December 24, 2016
CAD mutations and uridine-responsive epileptic encephalopathyJohannes Koch, Johannes A Mayr, Bader Alhaddad, et al.
Molecular Genetics and Metabolism|June 15, 2024
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processingBlai Morales-Romero, Gerard Muñoz-Pujol, Rafael Artuch, et al.
Pageof 21