Paula Maria Vieira Jorge


AuthID: R-002-5HV

Confirmed Publications: 8



1
TITLE: A tailored stepwise strategy for improving diagnostic yield in intellectual disability and developmental disorders  Full Text
AUTHORS: Maia, Nuno ; de Brouwer, Arjan P. M.; Jorge, Paula ;
PUBLISHED: 2023, SOURCE: 55th European-Society-of-Human-Genetics (ESHG) Conference in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 31
INDEXED IN: WOS
2
TITLE: Development and validation of a multiplex-PCR assay for X-linked intellectual disability  Full Text
AUTHORS: Paula Jorge ; Barbara Oliveira; Isabel Marques; Rosario Santos;
PUBLISHED: 2013, SOURCE: BMC MEDICAL GENETICS, VOLUME: 14, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
3
TITLE: The ABCA4 2588G > C Stargardt mutation: Single origin and increasing frequency from South-West to North-East Europe  Full Text
AUTHORS: Maugeri, A; Flothmann, K; Hemmrich, N; Ingvast, S; Jorge, P ; Paloma, E; Patel, R; Rozet, JM; Tammur, J; Testa, F; Balcells, S; Bird, AC; Brunner, HG; Hoyng, CB; Metspalu, A; Simonelli, F; Allikmets, R; Bhattacharya, SS; D'Urso, M; Gonzalez Duarte, R; Kaplan, J; Meerman, GJT; Santoss, R; Schwartz, M; Van Camp, G; Wadelius, C; Weber, BHF; Cremers, FPM; ...More
PUBLISHED: 2002, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 10, ISSUE: 3
INDEXED IN: Scopus WOS
IN MY: ORCID
4
TITLE: Noval mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient. Mutations in brief no. 177. Online.  Full Text
AUTHORS: dos Santos, MR; Jorge, P ; Ribeiro, EM; Pires, MM ; Guimaraes, A;
PUBLISHED: 1998, SOURCE: Human mutation, VOLUME: 12, ISSUE: 3
INDEXED IN: Scopus
IN MY: ORCID
5
TITLE: Mutational analysis of an X-linked adrenoleukodystrophy (ALD) patient with detectable ALD protein
AUTHORS: Jorge, P ; Brites, P; Nogueira, A; Aubourg, P;
PUBLISHED: 1996, SOURCE: International Symposium on Peroxisomes - Biology and Role in Toxicology and Disease in PEROXISOMES: BIOLOGY AND ROLE IN TOXICOLOGY AND DISEASE, VOLUME: 804, ISSUE: 1 Peroxisomes
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
6
TITLE: X-LINKED ADRENOLEUKODYSTROPHY IN PATIENTS WITH IDIOPATHIC ADDISON-DISEASE
AUTHORS: JORGE, P ; QUELHAS, D; OLIVEIRA, P ; PINTO, R; NOGUEIRA, A;
PUBLISHED: 1994, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 153, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
7
TITLE: CHARACTERIZATION OF X-LINKED ADRENOLEUKODYSTROPHY IN DIFFERENT BIOLOGICAL SPECIMENS FROM 10 PORTUGUESE FAMILIES
AUTHORS: JORGE, P ; QUELHAS, D; NOGUEIRA, A;
PUBLISHED: 1993, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 16, ISSUE: 1
INDEXED IN: Scopus WOS
8
TITLE: X-LINKED ADRENOLEUKODYSTROPHY AND HEMOPHILIA-A IN THE SAME KINDRED
AUTHORS: NOGUEIRA, A; JORGE, P ; DORES, J; CUNHA, M; SOUSA, S; PEREIRA, I; CAMPOS, M; JUSTICA, B; QUELHAS, D; MIRANDA, MS;
PUBLISHED: 1993, SOURCE: 30TH ANNUAL MEETING OF THE SOC FOR THE STUDY OF INBORN ERRORS OF METABOLISM : INHERITED METABOLIC DISEASE AND THE BRAIN in JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 16, ISSUE: 3
INDEXED IN: Scopus WOS

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