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Maria João Prata Martins Ribeiro
AuthID:
R-000-BXM
Publications
Confirmed
To Validate
Document Source:
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Document Type:
All Document Types
Article (108)
Proceedings Paper (14)
Abstract (9)
Review (5)
Letter (3)
Note (2)
Book Chapter (2)
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Order:
Year Dsc
Year Asc
Cit. WOS Dsc
IF WOS Dsc
Cit. Scopus Dsc
IF Scopus Dsc
Title Asc
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Results:
10
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50
Confirmed Publications: 143
41
TITLE:
Molecular characterization of maple syrup urine disease patients from Tunisia
Full Text
AUTHORS:
Jaafar, N;
Moleirinho, A
; Kerkeni, E;
Monastiri, K
;
Seboui, H
;
Amorim, Antonio
;
Prata, MJ
;
Quental, S
;
PUBLISHED:
2013
,
SOURCE:
GENE,
VOLUME:
517,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
:
10
IN MY:
ORCID
|
ResearcherID
42
TITLE:
Sortilin and the risk of cardiovascular disease
AUTHORS:
Maria Francisca Coutinho;
Mafalda Bourbon
;
Maria Joao Prata
; Sandra Alves;
PUBLISHED:
2013
,
SOURCE:
REVISTA PORTUGUESA DE CARDIOLOGIA,
VOLUME:
32,
ISSUE:
10
INDEXED IN:
Scopus
WOS
IN MY:
ORCID
43
TITLE:
Sortilina e risco de doença cardiovascular
AUTHORS:
Maria Francisca Coutinho
;
Mafalda Bourbon
;
Maria João Prata
; Sandra Alves;
PUBLISHED:
2013
,
SOURCE:
Revista Portuguesa de Cardiologia,
VOLUME:
32,
ISSUE:
10
INDEXED IN:
CrossRef
:
5
IN MY:
ORCID
44
TITLE:
A method for the analysis of 32 X chromosome insertion deletion polymorphisms in a single PCR
Full Text
AUTHORS:
Rui Pereira
;
Vania Pereira
;
Iva Gomes
; Carmen Tomas;
Niels Morling
;
Amorim, Antonio
;
Maria Joao Prata
; Angel Carracedo;
Leonor Gusmao
;
PUBLISHED:
2012
,
SOURCE:
INTERNATIONAL JOURNAL OF LEGAL MEDICINE,
VOLUME:
126,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
:
40
IN MY:
ORCID
|
ResearcherID
45
TITLE:
A shortcut to the lysosome: The mannose-6-phosphate-independent pathway
Full Text
AUTHORS:
Maria Francisca Coutinho
;
Maria Joao Prata
; Sandra Alves;
PUBLISHED:
2012
,
SOURCE:
MOLECULAR GENETICS AND METABOLISM,
VOLUME:
107,
ISSUE:
3
INDEXED IN:
Scopus
WOS
CrossRef
:
81
IN MY:
ORCID
|
ResearcherID
46
TITLE:
Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients
Full Text
AUTHORS:
Coutinho, MF
; Lacerda, L;
Macedo Ribeiro, S
; Baptista, E; Ribeiro, H;
Prata, MJ
;
Alves, S
;
PUBLISHED:
2012
,
SOURCE:
CLINICAL GENETICS,
VOLUME:
81,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
:
10
IN MY:
ORCID
|
ResearcherID
47
TITLE:
Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction
Full Text
AUTHORS:
Maria Francisca Coutinho
;
Maria Joao Prata
; Sandra Alves;
PUBLISHED:
2012
,
SOURCE:
MOLECULAR GENETICS AND METABOLISM,
VOLUME:
105,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
:
169
IN MY:
ORCID
|
ResearcherID
48
TITLE:
Mucolipidosis type II a/ss with a homozygous missense mutation in the GNPTAB gene
Full Text
AUTHORS:
Maria Francisca Coutinho
; Liliana da Silva Santos;
Katta Mohan Girisha
;
Kapaettu Satyamoorthy
; Lucia Lacerda;
Maria Joao Prata
; Sandra Alves;
PUBLISHED:
2012
,
SOURCE:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
VOLUME:
158A,
ISSUE:
5
INDEXED IN:
Scopus
WOS
CrossRef
:
10
IN MY:
ORCID
|
ResearcherID
49
TITLE:
Refining the genetic portrait of Portuguese Roma through X-chromosomal markers
Full Text
AUTHORS:
Vania Pereira
;
Leonor Gusmao
; Cristina Valente;
Rui Pereira
;
Joao Carneiro
;
Iva Gomes
;
Niels Morling
;
Amorim, Antonio
;
Maria Joao Prata
;
PUBLISHED:
2012
,
SOURCE:
AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY,
VOLUME:
148,
ISSUE:
3
INDEXED IN:
Scopus
WOS
CrossRef
:
8
IN MY:
ORCID
|
ResearcherID
50
TITLE:
Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient
AUTHORS:
Maria Francisca Coutinho
; Liliana da Silva Santos; Lúcia Lacerda;
Sofia Quental
; Flemming Wibrand; Allan M Lund; Klaus B Johansen;
Maria João Prata
; Sandra Alves;
PUBLISHED:
2011
,
SOURCE:
JIMD Reports - JIMD Reports - Case and Research Reports, 2012/1
INDEXED IN:
CrossRef
:
4
IN MY:
ORCID
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