51
TITLE: Adaptive Evolution Favoring KLK4 Downregulation in East Asians
AUTHORS: Patricia Isabel Marques; Filipa Fonseca; Tania Sousa; Paulo Santos; Vania Camilo; Zelia Ferreira; Victor Quesada; Susana Seixas;
PUBLISHED: 2016, SOURCE: MOLECULAR BIOLOGY AND EVOLUTION, VOLUME: 33, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
52
TITLE: Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal  Full Text
AUTHORS: Deolinda Silva; Maria Joao Oliveira; Miguel Guimaraes; Ricardo Lima; Silvia Gomes; Susana Seixas;
PUBLISHED: 2016, SOURCE: RESPIRATORY MEDICINE, VOLUME: 116
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
53
TITLE: Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders  Full Text
AUTHORS: Maria Francisca Coutinho; Juliana Ines Santos; Sandra Alves;
PUBLISHED: 2016, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 17, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef
54
TITLE: Sequence variation at KLK and WFDC clusters and its association to semen hyperviscosity and other male infertility phenotypes
AUTHORS: Marques, PI; Fonseca, F; Carvalho, AS; Puente, DA; Damiao, I; Almeida, V ; Barros, N; Barros, A ; Carvalho, F ; Azkargorta, M; Elortza, F; Osorio, H; Matthiesen, R; Quesada, V; Seixas, S;
PUBLISHED: 2016, SOURCE: HUMAN REPRODUCTION, VOLUME: 31, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef: 9 Handle
IN MY: ORCID
55
TITLE: The Mutational Spectrum of WT1 in Male Infertility
AUTHORS: Seabra, CM; Quental, S; Lima, AC; Carvalho, F ; Goncalves, J; Fernandes, S; Pereira, I; Silva, J; Marques, PI; Sousa, M ; Barros, A ; Seixas, S; Amorim, Antonio ; Lopes, AM;
PUBLISHED: 2015, SOURCE: JOURNAL OF UROLOGY, VOLUME: 193, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 10 Handle
IN MY: ORCID
57
TITLE: Chemical abundances and kinematics of 257 G-, K-type field giants. Setting a base for further analysis of giant-planet properties orbiting evolved stars  Full Text
AUTHORS: Zh. Z Adibekyan ; Benamati, L; Santos, NC ; Alves, S; Lovis, C; Udry, S; Israelian, G; Sousa, SG ; Tsantaki, M; Mortier, A; Sozzetti, A; De Medeiros, JR;
PUBLISHED: 2015, SOURCE: MONTHLY NOTICES OF THE ROYAL ASTRONOMICAL SOCIETY, VOLUME: 450, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 23
60
TITLE: Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II  Full Text
AUTHORS: Liliana Matos; Vania Goncalves; Eugenia Pinto; Francisco Laranjeira ; Maria Joao Prata ; Peter Jordan; Lourdes R Desviat; Belen Perez; Sandra Alves;
PUBLISHED: 2015, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, VOLUME: 1852, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef: 11
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