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Ophthalmic Genetics
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August 1, 2000
Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene
L B Eksandh, V B Ponjavic, P B Munroe, et al.
American Journal of Human Genetics
|
July 27, 2001
Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity
L A Metherell, S A Akker, P B Munroe, et al.
Neuropediatrics
|
February 1, 1997
Strategy for mutation detection in CLN3: characterisation of two Finnish mutations
P B Munroe, A M O'Rawe, H M Mitchison, et al.
Biochemical and Biophysical Research Communications
|
November 30, 1994
Mapping of two phenol sulphotransferase genes, STP and STM, to 16p: candidate genes for Batten disease
T P Dooley, H M Mitchison, P B Munroe, et al.
Genomics
|
September 20, 1995
YAC and cosmid contigs spanning the Batten disease (CLN3) region at 16p12.1-p11.2
I E Järvelä, H M Mitchison, A M O'Rawe, et al.
Neurology
|
February 5, 1999
Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis
L Lauronen, P B Munroe, I Järvelä, et al.
Molecular Genetics and Metabolism
|
April 7, 1999
The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland
J B Stephenson, N D Greene, K Y Leung, et al.
American Journal of Human Genetics
|
August 1, 1997
Spectrum of mutations in the Batten disease gene, CLN3
P B Munroe, H M Mitchison, A M O'Rawe, et al.
Neuropediatrics
|
February 1, 1997
Structure of the CLN3 gene and predicted structure, location and function of CLN3 protein
H M Mitchison, P E Taschner, G Kremmidiotis, et al.
Human Molecular Genetics
|
March 21, 1998
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits
H M Mitchison, S L Hofmann, C H Becerra, et al.
Page
of 4
Search research articles
Search
Showing results (21-30 of 31) with videos related to
Sort By:
Page
of 4
Ophthalmic Genetics
|
August 1, 2000
Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene
L B Eksandh, V B Ponjavic, P B Munroe, et al.
American Journal of Human Genetics
|
July 27, 2001
Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity
L A Metherell, S A Akker, P B Munroe, et al.
Neuropediatrics
|
February 1, 1997
Strategy for mutation detection in CLN3: characterisation of two Finnish mutations
P B Munroe, A M O'Rawe, H M Mitchison, et al.
Biochemical and Biophysical Research Communications
|
November 30, 1994
Mapping of two phenol sulphotransferase genes, STP and STM, to 16p: candidate genes for Batten disease
T P Dooley, H M Mitchison, P B Munroe, et al.
Genomics
|
September 20, 1995
YAC and cosmid contigs spanning the Batten disease (CLN3) region at 16p12.1-p11.2
I E Järvelä, H M Mitchison, A M O'Rawe, et al.
Neurology
|
February 5, 1999
Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis
L Lauronen, P B Munroe, I Järvelä, et al.
Molecular Genetics and Metabolism
|
April 7, 1999
The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland
J B Stephenson, N D Greene, K Y Leung, et al.
American Journal of Human Genetics
|
August 1, 1997
Spectrum of mutations in the Batten disease gene, CLN3
P B Munroe, H M Mitchison, A M O'Rawe, et al.
Neuropediatrics
|
February 1, 1997
Structure of the CLN3 gene and predicted structure, location and function of CLN3 protein
H M Mitchison, P E Taschner, G Kremmidiotis, et al.
Human Molecular Genetics
|
March 21, 1998
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits
H M Mitchison, S L Hofmann, C H Becerra, et al.
Page
of 4