31
TITLE: The ABCA4 2588G > Stargardt mutation: Single origin and increasing frequency from South-West to North-East Europe
AUTHORS: Alessandra Maugeri; Kris Flothmann; Nadine Hemmrich; Sofie Ingvast; Paula Jorge; Eva Paloma; Reshma Patel; Jean Michael Rozet; Jaana Tammur; Francesco Testa; Susana Balcells; Alan C Bird; Han G Brunner; Carel B Hoyng; Andres Metspalu; Francesca Simonelli; Rando Allikmets; Shomi S Bhattacharya; Michele D’urso; Roser Gonzalez Duarte; Josseline Kaplan; Gerard J Te Meerman; Rosàrio Santos; Marianne Schwartz; Guy Van Camp; Claes Wadelius; Bernhard H F Weber; Frans P M Cremers; ...More
PUBLISHED: 2002, SOURCE: European Journal of Human Genetics, VOLUME: 10, ISSUE: 3
INDEXED IN: Scopus
IN MY: ORCID
32
TITLE: The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe
AUTHORS: Alessandra Maugeri; Kris Flothmann; Nadine Hemmrich; Sofie Ingvast; Paula Jorge; Eva Paloma; Reshma Patel; Jean-Michel Rozet; Jaana Tammur; Francesco Testa; Susana Balcells; Alan C Bird; Han G Brunner; Carel B Hoyng; Andres Metspalu; Francesca Simonelli; Rando Allikmets; Shomi S Bhattacharya; Michele D'Urso; Roser Gonzàlez-Duarte; Josseline Kaplan; Gerard J te Meerman; Rosário Santos; Marianne Schwartz; Guy Van Camp; Claes Wadelius; Bernhard H F Weber; Frans P M Cremers; ...More
PUBLISHED: 2002, SOURCE: European Journal of Human Genetics, VOLUME: 10, ISSUE: 3
INDEXED IN: CrossRef: 34
IN MY: ORCID
34
TITLE: Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts
AUTHORS: Cartier, N; Lopez, J; Moullier, P; Rocchiccioli, F; Rolland, MO; Jorge, P; Mosser, J; Mandel, JL; Bougneres, PF; Danos, O; Aubourg, P;
PUBLISHED: 1995, SOURCE: Proceedings of the National Academy of Sciences of the United States of America, VOLUME: 92, ISSUE: 5
INDEXED IN: Scopus CrossRef
IN MY: ORCID
35
TITLE: Characterization of X-linked adrenoleukodystrophy in different biological specimens from ten Portuguese families
AUTHORS: Jorge, P; Quelhas, D; Nogueira, A;
PUBLISHED: 1993, SOURCE: Journal of Inherited Metabolic Disease - J Inherit Metab Dis, VOLUME: 16, ISSUE: 1
INDEXED IN: CrossRef
IN MY: ORCID
36
TITLE: X-linked adrenoleukodystrophy and haemophilia A in the same kindred
AUTHORS: Nogueira, A; Jorge, P; Dores, J; Cunha, M; Sousa, S; Pereira, I; Campos, M; Justica, B; Quelhas, D; S� S Miranda;
PUBLISHED: 1993, SOURCE: Journal of Inherited Metabolic Disease - J Inherit Metab Dis, VOLUME: 16, ISSUE: 3
INDEXED IN: CrossRef
IN MY: ORCID
Page 4 of 4. Total results: 36.