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American Journal of Human Genetics
|
January 1, 1995
Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome
B C Broughton, A F Thompson, S A Harcourt, et al.
The Journal of Clinical Investigation
|
January 22, 2000
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie
T Imbach, B Schenk, E Schollen, et al.
Journal of the Neurological Sciences
|
November 1, 1988
Cytochrome oxidase deficiency: immunological studies of skeletal muscle mitochondrial fractions
I M Shepherd, M A Birch-Machin, M A Johnson, et al.
Magnetic Resonance in Medicine
|
November 7, 2000
Acute changes in MRI diffusion, perfusion, T(1), and T(2) in a rat model of oligemia produced by partial occlusion of the middle cerebral artery
M F Lythgoe, D L Thomas, F Calamante, et al.
Magnetic Resonance in Medicine
|
April 16, 1999
Early changes in water diffusion, perfusion, T1, and T2 during focal cerebral ischemia in the rat studied at 8.5 T
F Calamante, M F Lythgoe, G S Pell, et al.
Molecular Genetics and Metabolism
|
April 22, 2014
PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease
M A Illingworth, E Meyer, W K Chong, et al.
Neurology
|
October 22, 2008
Cerebellar leukoencephalopathy: most likely histiocytosis-related
M S van der Knaap, W F M Arts, J Y Garbern, et al.
Journal of Inherited Metabolic Disease
|
September 1, 2018
Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
A Papandreou, S Rahman, C Fratter, et al.
Journal of Inherited Metabolic Disease
|
November 21, 2018
Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
A Papandreou, S Rahman, C Fratter, et al.
Journal of Medical Genetics
|
August 30, 2008
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients
C Zweier, H Sticht, E K Bijlsma, et al.
Page
of 11
Search research articles
Search
Showing results (91-100 of 101) with videos related to
Sort By:
Page
of 11
American Journal of Human Genetics
|
January 1, 1995
Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome
B C Broughton, A F Thompson, S A Harcourt, et al.
The Journal of Clinical Investigation
|
January 22, 2000
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie
T Imbach, B Schenk, E Schollen, et al.
Journal of the Neurological Sciences
|
November 1, 1988
Cytochrome oxidase deficiency: immunological studies of skeletal muscle mitochondrial fractions
I M Shepherd, M A Birch-Machin, M A Johnson, et al.
Magnetic Resonance in Medicine
|
November 7, 2000
Acute changes in MRI diffusion, perfusion, T(1), and T(2) in a rat model of oligemia produced by partial occlusion of the middle cerebral artery
M F Lythgoe, D L Thomas, F Calamante, et al.
Magnetic Resonance in Medicine
|
April 16, 1999
Early changes in water diffusion, perfusion, T1, and T2 during focal cerebral ischemia in the rat studied at 8.5 T
F Calamante, M F Lythgoe, G S Pell, et al.
Molecular Genetics and Metabolism
|
April 22, 2014
PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease
M A Illingworth, E Meyer, W K Chong, et al.
Neurology
|
October 22, 2008
Cerebellar leukoencephalopathy: most likely histiocytosis-related
M S van der Knaap, W F M Arts, J Y Garbern, et al.
Journal of Inherited Metabolic Disease
|
September 1, 2018
Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
A Papandreou, S Rahman, C Fratter, et al.
Journal of Inherited Metabolic Disease
|
November 21, 2018
Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
A Papandreou, S Rahman, C Fratter, et al.
Journal of Medical Genetics
|
August 30, 2008
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients
C Zweier, H Sticht, E K Bijlsma, et al.
Page
of 11