P E Taschner - JoVE Visualize

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American Journal of Medical Genetics|June 5, 1995

Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis)P E Taschner, N de Vos, J G Post, et al.

Genes, Chromosomes & Cancer|June 8, 2001

Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD geneP E Taschner, J C Jansen, B E Baysal, 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.

Genomics|February 12, 1998

Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody diseaseA Odermatt, P E Taschner, S W Scherer, 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.

Prenatal Diagnosis|March 10, 2001

First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysisW J Kleijer, O P van Diggelen, J L Keulemans, et al.

Prenatal Diagnosis|July 23, 1999

First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysisB B de Vries, W J Kleijer, J L Keulemans, et al.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 9, 2001

New mutations in the neuronal ceroid lipofuscinosis genesS E Mole, N A Zhong, A Sarpong, et al.

Science (New York, N.Y.)|February 5, 2000

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paragangliomaB E Baysal, R E Ferrell, J E Willett-Brozick, et al.

Neurobiology of Disease|October 21, 1999

Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected]H M Mitchison, D J Bernard, N D Greene, et al.

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Showing results (31-40 of 43) with videos related to

Sort By:

Pageof 5

American Journal of Medical Genetics|June 5, 1995

Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis)P E Taschner, N de Vos, J G Post, et al.

Genes, Chromosomes & Cancer|June 8, 2001

Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD geneP E Taschner, J C Jansen, B E Baysal, 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.

Genomics|February 12, 1998

Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody diseaseA Odermatt, P E Taschner, S W Scherer, 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.

Prenatal Diagnosis|March 10, 2001

First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysisW J Kleijer, O P van Diggelen, J L Keulemans, et al.

Prenatal Diagnosis|July 23, 1999

First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysisB B de Vries, W J Kleijer, J L Keulemans, et al.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 9, 2001

New mutations in the neuronal ceroid lipofuscinosis genesS E Mole, N A Zhong, A Sarpong, et al.

Science (New York, N.Y.)|February 5, 2000

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paragangliomaB E Baysal, R E Ferrell, J E Willett-Brozick, et al.

Neurobiology of Disease|October 21, 1999

Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected]H M Mitchison, D J Bernard, N D Greene, et al.

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