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Nature Communications
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July 8, 2015
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
Isabelle Thiffault, Nicole I Wolf, Diane Forget, et al.
Plos One
|
September 27, 2007
Deinococcus geothermalis: the pool of extreme radiation resistance genes shrinks
Kira S Makarova, Marina V Omelchenko, Elena K Gaidamakova, et al.
American Journal of Human Genetics
|
May 7, 2013
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity
Ryan J Taft, Adeline Vanderver, Richard J Leventer, et al.
Brain : a Journal of Neurology
|
March 20, 2014
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome
Philippa B Mills, Stephane S M Camuzeaux, Emma J Footitt, et al.
Human Mutation
|
October 23, 2012
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity
Arianna Tucci, Eleanna Kara, Anna Schossig, et al.
Gait & Posture
|
December 14, 2024
Status of surface electromyography assessment as part of clinical gait analysis in the management of patients with cerebral palsy - Outcomes of a Delphi process
Robert Reisig, Nathalie Alexander, Stéphane Armand, 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 deficiency
Saskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, et al.
Neuropediatrics
|
June 26, 2018
PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum
Bader Alhaddad, Anna Schossig, Tobias B Haack, 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 mutations
Martina Huemer, Daniela Karall, Anna Schossig, et al.
HGG Advances
|
July 20, 2025
Comprehensive genotype-phenotype analysis in POLR3-related disorders
Mackenzie A Michell-Robinson, Stefanie Perrier, Samuel Gauthier, et al.
Page
of 90
Search research articles
Search
Showing results (841-850 of 898) with videos related to
Sort By:
Page
of 90
Nature Communications
|
July 8, 2015
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
Isabelle Thiffault, Nicole I Wolf, Diane Forget, et al.
Plos One
|
September 27, 2007
Deinococcus geothermalis: the pool of extreme radiation resistance genes shrinks
Kira S Makarova, Marina V Omelchenko, Elena K Gaidamakova, et al.
American Journal of Human Genetics
|
May 7, 2013
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity
Ryan J Taft, Adeline Vanderver, Richard J Leventer, et al.
Brain : a Journal of Neurology
|
March 20, 2014
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome
Philippa B Mills, Stephane S M Camuzeaux, Emma J Footitt, et al.
Human Mutation
|
October 23, 2012
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity
Arianna Tucci, Eleanna Kara, Anna Schossig, et al.
Gait & Posture
|
December 14, 2024
Status of surface electromyography assessment as part of clinical gait analysis in the management of patients with cerebral palsy - Outcomes of a Delphi process
Robert Reisig, Nathalie Alexander, Stéphane Armand, 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 deficiency
Saskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, et al.
Neuropediatrics
|
June 26, 2018
PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum
Bader Alhaddad, Anna Schossig, Tobias B Haack, 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 mutations
Martina Huemer, Daniela Karall, Anna Schossig, et al.
HGG Advances
|
July 20, 2025
Comprehensive genotype-phenotype analysis in POLR3-related disorders
Mackenzie A Michell-Robinson, Stefanie Perrier, Samuel Gauthier, et al.
Page
of 90