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Journal of Inherited Metabolic Disease
|
July 9, 2017
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
Ewa Pronicka, Mariola Ropacka-Lesiak, Joanna Trubicka, et al.
Journal of Inherited Metabolic Disease
|
February 8, 2020
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus
Maaike C De Vries, David A Brown, Mitchell E Allen, et al.
Journal of Inherited Metabolic Disease
|
October 6, 2017
Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project
Amel Karaa, Shamima Rahman, Anne Lombès, et al.
Brain Communications
|
February 25, 2021
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders
Shekeeb S Mohammad, Rajeshwar Reddy Angiti, Andrew Biggin, et al.
Journal of Neurology
|
June 1, 2024
Status epilepticus in POLG disease: a large multinational study
Omar Hikmat, Karin Naess, Martin Engvall, et al.
Orphanet Journal of Rare Diseases
|
July 9, 2013
SURF1 deficiency: a multi-centre natural history study
Yehani Wedatilake, Ruth M Brown, Robert McFarland, et al.
Human Genetics
|
November 2, 2019
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair
Alejandro Horga, Catherine E Woodward, Alberto Mills, et al.
Nature Communications
|
November 7, 2022
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
William L Macken, Micol Falabella, Caroline McKittrick, et al.
Kidney International
|
September 11, 2014
The urinary proteome and metabonome differ from normal in adults with mitochondrial disease
Andrew M Hall, Annalisa Vilasi, Isabel Garcia-Perez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 30, 2019
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency
Nandaki Keshavan, Jose Abdenur, Glenn Anderson, et al.
Page
of 19
Search research articles
Search
Showing results (141-150 of 182) with videos related to
Sort By:
Page
of 19
Journal of Inherited Metabolic Disease
|
July 9, 2017
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
Ewa Pronicka, Mariola Ropacka-Lesiak, Joanna Trubicka, et al.
Journal of Inherited Metabolic Disease
|
February 8, 2020
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus
Maaike C De Vries, David A Brown, Mitchell E Allen, et al.
Journal of Inherited Metabolic Disease
|
October 6, 2017
Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project
Amel Karaa, Shamima Rahman, Anne Lombès, et al.
Brain Communications
|
February 25, 2021
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders
Shekeeb S Mohammad, Rajeshwar Reddy Angiti, Andrew Biggin, et al.
Journal of Neurology
|
June 1, 2024
Status epilepticus in POLG disease: a large multinational study
Omar Hikmat, Karin Naess, Martin Engvall, et al.
Orphanet Journal of Rare Diseases
|
July 9, 2013
SURF1 deficiency: a multi-centre natural history study
Yehani Wedatilake, Ruth M Brown, Robert McFarland, et al.
Human Genetics
|
November 2, 2019
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair
Alejandro Horga, Catherine E Woodward, Alberto Mills, et al.
Nature Communications
|
November 7, 2022
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
William L Macken, Micol Falabella, Caroline McKittrick, et al.
Kidney International
|
September 11, 2014
The urinary proteome and metabonome differ from normal in adults with mitochondrial disease
Andrew M Hall, Annalisa Vilasi, Isabel Garcia-Perez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 30, 2019
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency
Nandaki Keshavan, Jose Abdenur, Glenn Anderson, et al.
Page
of 19