Filipa Abreu Gomes de Carvalho


AuthID: R-000-K35

Confirmed Publications: 118



61
62
TITLE: Disease: Adrenal hyperplasia
AUTHORS: Carvalho, B; Marques, CJ ; Carvalho, D ; Barros, A ; Carvalho, F ;
PUBLISHED: 2010, SOURCE: Human Genetics, VOLUME: 127, ISSUE: 4
INDEXED IN: Scopus
IN MY: ORCID
63
64
TITLE: Methylation defects of imprinted genes in human testicular spermatozoa
AUTHORS: Joana J Marques ; Tania Francisco; Sonia Sousa; Filipa Carvalho ; Alberto Barros ; Mario Sousa ;
PUBLISHED: 2010, SOURCE: FERTILITY AND STERILITY, VOLUME: 94, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 98
IN MY: ORCID | ResearcherID
65
TITLE: Mutational Characterization of Steroid 21-Hydroxylase Gene in Portuguese patients with Congenital Adrenal Hyperplasia
AUTHORS: Marques, CJ ; Pignatelli, D; Carvalho, B; Barcelo, J; Almeida, AC; Fernandes, S; Witchel, SF; Sousa, M ; Oliveira, MJ; Freitas, P ; Fontoura, M ; Carvalho, D ; Barros, A ; Carvalho, F ;
PUBLISHED: 2010, SOURCE: EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, VOLUME: 118, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 9
IN MY: ORCID | ResearcherID
66
TITLE: Novel human pathological mutations. Gene symbol: CYP21A2. Disease: adrenal hyperplasia.
AUTHORS: Carvalho, B; Marques, CJ ; Carvalho, D ; Barros, A ; Carvalho, F ;
PUBLISHED: 2010, SOURCE: Human genetics, VOLUME: 127, ISSUE: 4
INDEXED IN: Scopus
IN MY: ORCID
67
TITLE: An efficient protocol for the detection of chromosomal abnormalities in spontaneous miscarriages or foetal deaths  Full Text
AUTHORS: Sofia Doria ; Filipa Carvalho ; Ramalho C ; Vera Lima ; Tania Francisco; Ana Paula Machado; Otilia Brandao; Mario Sousa ; Alexandra Matias ; Alberto Barros ;
PUBLISHED: 2009, SOURCE: EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY, VOLUME: 147, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 27
IN MY: ORCID | ResearcherID
68
TITLE: Keratitis-Ichthyosis-Deafness Syndrome Caused by GJB2 Maternal Mosaicism  Full Text
AUTHORS: Matthias Titeux; Vanessa Mendonca; Audrey Decha; Elisabete Moreira; Sofia Magina ; Ana Maia; Laetitia Lacaze Buzy; Jose Enrique Mejia; Luis Torrao; Filipa Carvalho ; Julia Eca Guimaraes; Alain Hovnanian;
PUBLISHED: 2009, SOURCE: JOURNAL OF INVESTIGATIVE DERMATOLOGY, VOLUME: 129, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 25
IN MY: ORCID | ResearcherID
69
TITLE: Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
AUTHORS: Ferreira, S; Valbuena, C; Carvalho, F ; Oliveira, JP ;
PUBLISHED: 2009, SOURCE: Human genetics, VOLUME: 126, ISSUE: 2
INDEXED IN: Scopus
IN MY: ORCID
70
Página 7 de 12. Total de resultados: 118.

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