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Brain : a Journal of Neurology
|
May 29, 2019
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications
Tim W Rattay, Tobias Lindig, Jonathan Baets, et al.
Molecular Genetics and Metabolism
|
July 27, 2025
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study
Sebastian Roesch, Anna O'Sullivan, Stefan Tschani, et al.
Journal of Neuromuscular Diseases
|
September 12, 2025
Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study
Benedikt Becker, Isabell Cordts, Jutta Becker, et al.
Journal of Inherited Metabolic Disease
|
October 11, 2022
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision
Nikolas Boy, Chris Mühlhausen, Esther M Maier, et al.
Journal of Inherited Metabolic Disease
|
May 31, 2015
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency
Martina Huemer, Regina Mulder-Bleile, Patricie Burda, et al.
European Journal of Human Genetics : EJHG
|
January 22, 2019
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
Markus Zweier, Anaïs Begemann, Kirsty McWalter, et al.
Journal of Inherited Metabolic Disease
|
November 17, 2020
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency
Curtis R Coughlin, Laura A Tseng, Jose E Abdenur, et al.
BMC Pediatrics
|
February 18, 2018
Patterns of paediatric end-of-life care: a chart review across different care settings in Switzerland
Karin Zimmermann, Eva Cignacco, Sandra Engberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 27, 2020
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, et al.
Annals of Neurology
|
August 19, 2020
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
Dora Steel, Michael Zech, Chen Zhao, et al.
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Search research articles
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Showing results (101-110 of 113) with videos related to
Sort By:
Page
of 12
Brain : a Journal of Neurology
|
May 29, 2019
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications
Tim W Rattay, Tobias Lindig, Jonathan Baets, et al.
Molecular Genetics and Metabolism
|
July 27, 2025
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study
Sebastian Roesch, Anna O'Sullivan, Stefan Tschani, et al.
Journal of Neuromuscular Diseases
|
September 12, 2025
Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study
Benedikt Becker, Isabell Cordts, Jutta Becker, et al.
Journal of Inherited Metabolic Disease
|
October 11, 2022
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision
Nikolas Boy, Chris Mühlhausen, Esther M Maier, et al.
Journal of Inherited Metabolic Disease
|
May 31, 2015
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency
Martina Huemer, Regina Mulder-Bleile, Patricie Burda, et al.
European Journal of Human Genetics : EJHG
|
January 22, 2019
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
Markus Zweier, Anaïs Begemann, Kirsty McWalter, et al.
Journal of Inherited Metabolic Disease
|
November 17, 2020
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency
Curtis R Coughlin, Laura A Tseng, Jose E Abdenur, et al.
BMC Pediatrics
|
February 18, 2018
Patterns of paediatric end-of-life care: a chart review across different care settings in Switzerland
Karin Zimmermann, Eva Cignacco, Sandra Engberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 27, 2020
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, et al.
Annals of Neurology
|
August 19, 2020
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
Dora Steel, Michael Zech, Chen Zhao, et al.
Page
of 12