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Journal of Inherited Metabolic Disease
|
July 18, 2020
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene
Laura Marti-Sanchez, Heidy Baide-Mairena, Anna Marcé-Grau, et al.
Journal of Inherited Metabolic Disease
|
July 10, 2021
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry
Mareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 29, 2017
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study
Alejandra Darling, Cristina Tello, María Josep Martí, et al.
Frontiers in Neurology
|
December 20, 2018
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study
Angelica D'Amore, Alessandra Tessa, Carlo Casali, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations
Katrine M Johannesen, Sumaiya Iqbal, Milena Guazzi, et al.
Molecular Genetics and Metabolism
|
July 15, 2023
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
January 19, 2026
International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives
Laia Nou-Fontanet, Claudia Ravelli, Lydie Burglen, et al.
Neurology
|
September 11, 2020
Cardiac phenotype in <i>ATP1A3</i>-related syndromes: A multicenter cohort study
Simona Balestrini, Mohamad A Mikati, Reyes Álvarez-García-Rovés, et al.
Molecular Genetics and Metabolism
|
June 22, 2023
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, et al.
Brain : a Journal of Neurology
|
August 14, 2025
Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients
Vicente Quiroz, Julian E Alecu, Umar Zubair, et al.
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Search research articles
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Showing results (81-90 of 90) with videos related to
Sort By:
Page
of 9
You have reached the last page of results.
This site can display upto 90 results.
Journal of Inherited Metabolic Disease
|
July 18, 2020
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene
Laura Marti-Sanchez, Heidy Baide-Mairena, Anna Marcé-Grau, et al.
Journal of Inherited Metabolic Disease
|
July 10, 2021
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry
Mareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 29, 2017
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study
Alejandra Darling, Cristina Tello, María Josep Martí, et al.
Frontiers in Neurology
|
December 20, 2018
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study
Angelica D'Amore, Alessandra Tessa, Carlo Casali, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations
Katrine M Johannesen, Sumaiya Iqbal, Milena Guazzi, et al.
Molecular Genetics and Metabolism
|
July 15, 2023
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
January 19, 2026
International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives
Laia Nou-Fontanet, Claudia Ravelli, Lydie Burglen, et al.
Neurology
|
September 11, 2020
Cardiac phenotype in <i>ATP1A3</i>-related syndromes: A multicenter cohort study
Simona Balestrini, Mohamad A Mikati, Reyes Álvarez-García-Rovés, et al.
Molecular Genetics and Metabolism
|
June 22, 2023
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, et al.
Brain : a Journal of Neurology
|
August 14, 2025
Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients
Vicente Quiroz, Julian E Alecu, Umar Zubair, et al.
Page
of 9