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Peter G Barth

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

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Human Mutation|August 21, 2008
Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell linesMerel S Ebberink, Petra A W Mooyer, Janet Koster, et al.
American Journal of Medical Genetics. Part A|April 21, 2004
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patientsBwee Tien Poll-The, Jeannette Gootjes, Marinus Duran, et al.
Brain : a Journal of Neurology|August 11, 2007
Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidancePeter G Barth, Charles B Majoie, Matthan W A Caan, et al.
Blood|February 7, 2004
Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosisTaco W Kuijpers, Nikolai A Maianski, Anton T J Tool, et al.
Annals of Neurology|November 10, 2005
Clinical and biochemical spectrum of D-bifunctional protein deficiencySacha Ferdinandusse, Simone Denis, Petra A W Mooyer, et al.
Human Mutation|September 11, 2014
Mutation update: the spectra of nebulin variants and associated myopathiesVilma-Lotta Lehtokari, Kirsi Kiiski, Sarah A Sandaradura, et al.
Brain : a Journal of Neurology|February 1, 2013
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathyMarian A J Weterman, Peter G Barth, Karin Y van Spaendonck-Zwarts, et al.
Brain : a Journal of Neurology|October 19, 2010
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasiaYasmin Namavar, Peter G Barth, Paul R Kasher, et al.
Orphanet Journal of Rare Diseases|February 15, 2014
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlationsVeerle Rc Eggens, Peter G Barth, Jikke-Mien F Niermeijer, et al.
Nature Genetics|August 20, 2008
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasiaBirgit S Budde, Yasmin Namavar, Peter G Barth, et al.
Pageof 4

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

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 40 results.
Human Mutation|August 21, 2008
Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell linesMerel S Ebberink, Petra A W Mooyer, Janet Koster, et al.
American Journal of Medical Genetics. Part A|April 21, 2004
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patientsBwee Tien Poll-The, Jeannette Gootjes, Marinus Duran, et al.
Brain : a Journal of Neurology|August 11, 2007
Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidancePeter G Barth, Charles B Majoie, Matthan W A Caan, et al.
Blood|February 7, 2004
Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosisTaco W Kuijpers, Nikolai A Maianski, Anton T J Tool, et al.
Annals of Neurology|November 10, 2005
Clinical and biochemical spectrum of D-bifunctional protein deficiencySacha Ferdinandusse, Simone Denis, Petra A W Mooyer, et al.
Human Mutation|September 11, 2014
Mutation update: the spectra of nebulin variants and associated myopathiesVilma-Lotta Lehtokari, Kirsi Kiiski, Sarah A Sandaradura, et al.
Brain : a Journal of Neurology|February 1, 2013
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathyMarian A J Weterman, Peter G Barth, Karin Y van Spaendonck-Zwarts, et al.
Brain : a Journal of Neurology|October 19, 2010
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasiaYasmin Namavar, Peter G Barth, Paul R Kasher, et al.
Orphanet Journal of Rare Diseases|February 15, 2014
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlationsVeerle Rc Eggens, Peter G Barth, Jikke-Mien F Niermeijer, et al.
Nature Genetics|August 20, 2008
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasiaBirgit S Budde, Yasmin Namavar, Peter G Barth, et al.
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