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Brain : a Journal of Neurology
|
February 26, 2014
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy
Laura van Berge, Eline M Hamilton, Tarja Linnankivi, et al.
Journal of Inherited Metabolic Disease
|
May 4, 2022
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
Saskia B Wortmann, Machteld M Oud, Mariëlle Alders, et al.
EMBO Molecular Medicine
|
January 16, 2010
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival
Katharina Rauschenberger, Katja Schöler, Jörn Oliver Sass, et al.
Journal of Inherited Metabolic Disease
|
February 13, 2019
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients
Mari-Anne Vals, Angel Ashikov, Pilvi Ilves, et al.
Neurogenetics
|
August 27, 2017
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1
Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, et al.
Neurology
|
May 9, 2014
Novel (ovario) leukodystrophy related to AARS2 mutations
Cristina Dallabona, Daria Diodato, Sietske H Kevelam, et al.
European Journal of Medical Genetics
|
July 8, 2022
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services
C A Stutterd, A Vanderver, P J Lockhart, et al.
Human Genetics
|
November 20, 2014
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Marta Romani, Francesca Mancini, Alessia Micalizzi, et al.
Annals of Neurology
|
May 10, 2016
Whole exome sequencing in patients with white matter abnormalities
Adeline Vanderver, Cas Simons, Guy Helman, et al.
Nature Reviews. Microbiology
|
December 21, 2019
Evolutionary classification of CRISPR-Cas systems: a burst of class 2 and derived variants
Kira S Makarova, Yuri I Wolf, Jaime Iranzo, et al.
Page
of 90
Search research articles
Search
Showing results (851-860 of 898) with videos related to
Sort By:
Page
of 90
Brain : a Journal of Neurology
|
February 26, 2014
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy
Laura van Berge, Eline M Hamilton, Tarja Linnankivi, et al.
Journal of Inherited Metabolic Disease
|
May 4, 2022
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
Saskia B Wortmann, Machteld M Oud, Mariëlle Alders, et al.
EMBO Molecular Medicine
|
January 16, 2010
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival
Katharina Rauschenberger, Katja Schöler, Jörn Oliver Sass, et al.
Journal of Inherited Metabolic Disease
|
February 13, 2019
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients
Mari-Anne Vals, Angel Ashikov, Pilvi Ilves, et al.
Neurogenetics
|
August 27, 2017
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1
Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, et al.
Neurology
|
May 9, 2014
Novel (ovario) leukodystrophy related to AARS2 mutations
Cristina Dallabona, Daria Diodato, Sietske H Kevelam, et al.
European Journal of Medical Genetics
|
July 8, 2022
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services
C A Stutterd, A Vanderver, P J Lockhart, et al.
Human Genetics
|
November 20, 2014
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Marta Romani, Francesca Mancini, Alessia Micalizzi, et al.
Annals of Neurology
|
May 10, 2016
Whole exome sequencing in patients with white matter abnormalities
Adeline Vanderver, Cas Simons, Guy Helman, et al.
Nature Reviews. Microbiology
|
December 21, 2019
Evolutionary classification of CRISPR-Cas systems: a burst of class 2 and derived variants
Kira S Makarova, Yuri I Wolf, Jaime Iranzo, et al.
Page
of 90