Jeannette Gootjes

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder

Merel S. Ebberink, Petra A.W. Mooijer, Jeannette Gootjes et al. · Human Mutation · 2010 · 156 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Peroxisome biogenesis disorders with prolonged survival: Phenotypic expression in a cohort of 31 patients

Bwee Tien Poll‐The, Jeannette Gootjes, Marinus Durán et al. · American Journal of Medical Genetics Part A · 2004 · 92 citations

Medicine, Neurology, Pediatrics +13

Identification of a new complementation group of the peroxisome biogenesis disorders andPEX14 as the mutated gene

Nobuyuki Shimozawa, Toshiro Tsukamoto, Tomoko Nagase et al. · Human Mutation · 2004 · 78 citations

Life Sciences, Genetics, Molecular Genetics +15

A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents

Annick Raas‐Rothschild, Ronald J. A. Wanders, Petra A.W. Mooijer et al. · The American Journal of Human Genetics · 2002 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Late onset white matter disease in peroxisome biogenesis disorder

P. G. Barth, Jeannette Gootjes, Hannelore Bode et al. · Neurology · 2001 · 47 citations

Medicine, Neurology, Pediatrics +17