61
TITLE: Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens
AUTHORS: Viktoria Havasi; Steven M Rowe; Peter N Kolettis; Didem Dayangac; Ahmet Sahin; Ana Grangeia ; Filipa Carvalho ; Alberto Barros ; Mario Sousa ; Lluis Bassas; Teresa Casals; Eric J Sorscher;
PUBLISHED: 2010, SOURCE: FERTILITY AND STERILITY, VOLUME: 94, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 17
62
TITLE: CFTR mRNA transcripts quantification in infertile CAVD patients
AUTHORS: Sousa, L; Grangeia, A; Carvalho, F ; Sousa, M; Barros, A ;
PUBLISHED: 2010, SOURCE: 26th Annual Meeting of ESHRE in HUMAN REPRODUCTION, VOLUME: 25
INDEXED IN: WOS
64
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
66
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: 102
67
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
68
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
70
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
Page 7 of 13. Total results: 121.