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P B Munroe

Showing results (21-30 of 31) with videos related to

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Ophthalmic Genetics|August 1, 2000
Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 geneL 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 insensitivityL A Metherell, S A Akker, P B Munroe, et al.
Neuropediatrics|February 1, 1997
Strategy for mutation detection in CLN3: characterisation of two Finnish mutationsP 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 diseaseT 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-p11.2I 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 lipofuscinosisL 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 ScotlandJ 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, CLN3P 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 proteinH 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 depositsH M Mitchison, S L Hofmann, C H Becerra, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Ophthalmic Genetics|August 1, 2000
Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 geneL 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 insensitivityL A Metherell, S A Akker, P B Munroe, et al.
Neuropediatrics|February 1, 1997
Strategy for mutation detection in CLN3: characterisation of two Finnish mutationsP 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 diseaseT 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-p11.2I 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 lipofuscinosisL 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 ScotlandJ 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, CLN3P 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 proteinH 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 depositsH M Mitchison, S L Hofmann, C H Becerra, et al.
Pageof 4