Paula Jorge

Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.

Nathalie Cartier, Jacqueline Lopez, P Moullier et al. · Proceedings of the National Academy of Sciences · 1995 · 104 citations

Life Sciences, Molecular Biology, Molecular Genetics +17

<i>LAMA2</i> gene analysis in a cohort of 26 congenital muscular dystrophy patients

Jorge Oliveira, Rosário Santos, Isabel Soares‐Silva et al. · Clinical Genetics · 2008 · 74 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism

Carina Rodrigues, Paula Jorge, J P Soares et al. · European Journal of Endocrinology · 2005 · 66 citations · Full text

Life Sciences, Endocrinology, Genetics +16

The ABCA4 2588G&gt;C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

Alessandra Maugeri, Kris Flothmann, Nadine Hemmrich et al. · European Journal of Human Genetics · 2002 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

X-linked adrenoleukodystrophy in patients with idiopathic addison disease

Paula Jorge, Dulce Quelhas, Pedro Oliveira et al. · European Journal of Pediatrics · 1994 · 32 citations

Medicine, Endocrinology, Pathology +10