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Search Results - Mooijer, Petra A W
Search Results - Mooijer, Petra A W
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A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents
by
Raas-Rothschild, Annick
,
Wanders, Ronald J.A.
,
Mooijer, Petra A.W.
,
Gootjes, Jeannette
,
Waterham, Hans R.
,
Gutman, Alisa
,
Suzuki, Yasuyuki
,
Shimozawa, Nobuyuki
,
Kondo, Naomi
,
Eshel, Gideon
,
Espeel, Marc
,
Roels, Frank
,
Korman, Stanley H.
Published in
American journal of human genetics
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Enoyl-CoA Hydratase Deficiency: Identification of a New Type of D-Bifunctional Protein Deficiency
by
van Grunsven, Elisabeth G.
,
Mooijer, Petra A. W.
,
Aubourg, Patrick
,
Wanders, Ronald J. A.
Published in
Human molecular genetics
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Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn error...
by
Gootjes, Jeannette
,
Schmohl, Frank
,
Mooijer, Petra A W
,
Dekker, Conny
,
Mandel, Hanna
,
Topcu, Meral
,
Huemer, Martina
,
Von Schütz, M
,
Marquardt, Thorsten
,
Smeitink, Jan A
,
Waterham, Hans R
,
Wanders, Ronald J A
Published in
Human mutation
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A novel cell model to study the function of the adrenoleukodystrophy-related protein
by
Gueugnon, Fabien
,
Volodina, Natalia
,
Taouil, Jaoued Et
,
Lopez, Tatiana E.
,
Gondcaille, Catherine
,
Grand, Anabelle Sequeira-Le
,
Mooijer, Petra A.W.
,
Kemp, Stephan
,
Wanders, Ronald J.A.
,
Savary, Stéphane
Published in
Biochemical and biophysical research communications
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Disorders of Peroxisome Biogenesis Due to Mutations in PEX1: Phenotypes and PEX1 Protein Levels
by
Walter, Claudia
,
Gootjes, Jeannette
,
Mooijer, Petra A.
,
Portsteffen, Herma
,
Klein, Christina
,
Waterham, Hans R.
,
Barth, Peter G.
,
Epplen, Jörg T.
,
Kunau, Wolf-H.
,
Wanders, Ronald J.A.
,
Dodt, Gabriele
Published in
American journal of human genetics
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American Journal Of Human Genetics
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Biochemical And Biophysical Research Communications
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Human Molecular Genetics
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The American Journal Of Human Genetics
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Cells, Cultured
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Genetics & Heredity
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Peroxisomal Disorders - Genetics
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Biological And Medical Sciences
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Infant
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Atpases Associated With Diverse Cellular Activities
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Biochemistry & Molecular Biology
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Child, Preschool
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Dna Mutational Analysis
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Errors Of Metabolism
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Fatal Outcome
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Fibroblasts
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