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Clinical Genetics
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June 1, 2011
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients
N A Schlipf, R Schüle, S Klimpe, et al.
Gene
|
June 1, 1996
Cloning, sequencing and functional studies of the gene encoding human GTP cyclohydrolase I
K Witter, T Werner, J H Blusch, et al.
Annals of Anatomy = Anatomischer Anzeiger : Official Organ of the Anatomische Gesellschaft
|
February 24, 2009
Widespread thalamic and cerebellar degeneration in a patient with a complicated hereditary spastic paraplegia (HSP)
K Seidel, Rai De Vos, L Derksen, et al.
Nucleic Acids Research
|
November 25, 1991
Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3
B Weber, O Riess, G Hutchinson, et al.
Journal of Neural Transmission (Vienna, Austria : 1996)
|
April 2, 2004
Screening for mutations of the IRP2 gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra
J Deplazes, K Schöbel, H Hochstrasser, et al.
American Journal of Human Genetics
|
November 1, 1995
Mechanisms of small ring formation suggested by the molecular characterization of two small accessory ring chromosomes derived from chromosome 4
Y Y Fang, H J Eyre, S K Bohlander, et al.
Genomics
|
January 15, 1994
Precise mapping of the brain alpha 2-adrenergic receptor gene within chromosome 4p16
O Riess, U Thies, I Siedlaczck, et al.
Archives of Neurology
|
October 27, 2001
Association of moderate polyglutamine tract expansions in the slow calcium-activated potassium channel type 3 with ataxia
K P Figueroa, P Chan, L Schöls, et al.
Neurogenetics
|
May 18, 1999
Mapping, genomic structure, and polymorphisms of the human GABABR1 receptor gene: evaluation of its involvement in idiopathic generalized epilepsy
H C Peters, G Kämmer, A Volz, et al.
Nature Genetics
|
February 14, 1998
Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease
R Krüger, W Kuhn, T Müller, et al.
Page
of 15
Search research articles
Search
Showing results (91-100 of 144) with videos related to
Sort By:
Page
of 15
Clinical Genetics
|
June 1, 2011
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients
N A Schlipf, R Schüle, S Klimpe, et al.
Gene
|
June 1, 1996
Cloning, sequencing and functional studies of the gene encoding human GTP cyclohydrolase I
K Witter, T Werner, J H Blusch, et al.
Annals of Anatomy = Anatomischer Anzeiger : Official Organ of the Anatomische Gesellschaft
|
February 24, 2009
Widespread thalamic and cerebellar degeneration in a patient with a complicated hereditary spastic paraplegia (HSP)
K Seidel, Rai De Vos, L Derksen, et al.
Nucleic Acids Research
|
November 25, 1991
Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3
B Weber, O Riess, G Hutchinson, et al.
Journal of Neural Transmission (Vienna, Austria : 1996)
|
April 2, 2004
Screening for mutations of the IRP2 gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra
J Deplazes, K Schöbel, H Hochstrasser, et al.
American Journal of Human Genetics
|
November 1, 1995
Mechanisms of small ring formation suggested by the molecular characterization of two small accessory ring chromosomes derived from chromosome 4
Y Y Fang, H J Eyre, S K Bohlander, et al.
Genomics
|
January 15, 1994
Precise mapping of the brain alpha 2-adrenergic receptor gene within chromosome 4p16
O Riess, U Thies, I Siedlaczck, et al.
Archives of Neurology
|
October 27, 2001
Association of moderate polyglutamine tract expansions in the slow calcium-activated potassium channel type 3 with ataxia
K P Figueroa, P Chan, L Schöls, et al.
Neurogenetics
|
May 18, 1999
Mapping, genomic structure, and polymorphisms of the human GABABR1 receptor gene: evaluation of its involvement in idiopathic generalized epilepsy
H C Peters, G Kämmer, A Volz, et al.
Nature Genetics
|
February 14, 1998
Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease
R Krüger, W Kuhn, T Müller, et al.
Page
of 15