81
TITLE: Evidence for selective low leukocyte enzyme activity levels associated with the G1170C > T 5 ' untranslated polymorphism of the alpha-galactosidase A gene  Full Text
AUTHORS: Ferreira, S; Barcelo, J; Carvalho, F ; Mansson, JE; Oliveira, JP;
PUBLISHED: 2007, SOURCE: 7th Annual European Round Table on Fabry Disease in CLINICAL THERAPEUTICS, VOLUME: 29
INDEXED IN: WOS CrossRef
IN MY: ORCID
82
TITLE: Frequency of 5 ' untranslated region single nucleotide polymorphisms of the alpha-Galactosidase A gene in the Portuguese population
AUTHORS: Ferreira, S; Barcelo, J; Carvalho, F ; Oliveira, JP ;
PUBLISHED: 2007, SOURCE: 7th Annual European Round Table on Fabry Disease in CLINICAL THERAPEUTICS, VOLUME: 29
INDEXED IN: WOS
83
TITLE: Genetic expression of mammalian stem cell markers in the human male germ line
AUTHORS: Sa, R; Carvalho, F ; Leite, C; Barros, A ; Sousa, M;
PUBLISHED: 2007, SOURCE: 23rd Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology in HUMAN REPRODUCTION, VOLUME: 22
INDEXED IN: WOS
84
TITLE: Heritable genomic imprinting defects in infertile patients with oligozoospermia and azoospermia [Alteração transmissível do imprinting genómico em pacientes inférteis por oligozoospermia e azoospermia]
AUTHORS: Marques, CJ ; Vaz, B; Costa, P; Sousa, S; Carvalho, F ; Fernandes, S; Silva, J; Sousa, M ; Barros, A ;
PUBLISHED: 2007, SOURCE: Arquivos de Medicina, VOLUME: 21, ISSUE: 2
INDEXED IN: Scopus
IN MY: ORCID
85
TITLE: Molecular characterisation of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens
AUTHORS: Grangeia, A ; Sa, R; Carvalho, F ; Martin, J; Girodon, E; Ferraz, L; Barros, A ; Sousa, M;
PUBLISHED: 2007, SOURCE: 23rd Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology in HUMAN REPRODUCTION, VOLUME: 22
INDEXED IN: WOS
86
TITLE: Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens
AUTHORS: Ana Grangeia ; Rosalia Sa ; Filipa Carvalho ; Josiane Martin; Emmanuelle Girodon; Joaquina Silva; Luis Ferraz; Alberto Barros ; Mario Sousa ;
PUBLISHED: 2007, SOURCE: GENETICS IN MEDICINE, VOLUME: 9, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 25
87
TITLE: Role of tissue growth factor beta-1 polymorphisms in congenital bilateral absence of the vas deferens
AUTHORS: Havasi, V; Rowe, SM; Kolettis, P; Grangeia, A; Carvalho, F ; Barros, A ; Sousa, M ; Dayangac, D; Casals, T; Pierucci Alves, F; Schultz, B; Sorscher, EJ;
PUBLISHED: 2007, SOURCE: PEDIATRIC PULMONOLOGY
INDEXED IN: WOS
89
TITLE: CFTR rearrangements in CAVD patients
AUTHORS: Grangeia, A ; Carvalho, F ; Girodon, E; Silva, J; Sousa, M; Barros, A ;
PUBLISHED: 2006, SOURCE: 22nd Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology in HUMAN REPRODUCTION, VOLUME: 21
INDEXED IN: WOS
90
TITLE: Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments
AUTHORS: Marc Spentchian; Isabelle Brun Heath; Agnes Taillandier; Delphine Fauvert; Jean Louis Serre; Brigitte Simon Bouy; Filipa Carvalho ; Ilga Grochova; Sarju G Mehta; Grit Mueller; Saskia Lesnik Oberstein; Gonul Ogur; Saba Sharif; Etienne Mornet;
PUBLISHED: 2006, SOURCE: GENETIC TESTING, VOLUME: 10, ISSUE: 4
INDEXED IN: WOS CrossRef: 23
Página 9 de 12. Total de resultados: 118.