Susana Maria Gouveia Fernandes
AuthID: R-000-K31
31
TITLE: Impact of an Individualized Prophylaxis Approach on Young Adults with Severe Hemophilia
AUTHORS: Susana Fernandes; Manuela Carvalho; Manuela Lopes; Fernando Araujo ;
PUBLISHED: 2014, SOURCE: SEMINARS IN THROMBOSIS AND HEMOSTASIS, VOLUME: 40, ISSUE: 7
AUTHORS: Susana Fernandes; Manuela Carvalho; Manuela Lopes; Fernando Araujo ;
PUBLISHED: 2014, SOURCE: SEMINARS IN THROMBOSIS AND HEMOSTASIS, VOLUME: 40, ISSUE: 7
32
TITLE: Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain Full Text
AUTHORS: Partha Sen; Yaping P Yang; Colby Navarro; Iris Silva; Przemyslaw Szafranski; Katarzyna E Kolodziejska; Avinash V Dharmadhikari; Hasnaa Mostafa; Harry Kozakewich; Debra Kearney; John B Cahill; Merrissa Whitt; Masha Bilic; Linda Margraf; Adrian Charles; Jack Goldblatt; Kathleen Gibson; Patrick E Lantz; Julian J Garvin; John Petty; ...More
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 6
AUTHORS: Partha Sen; Yaping P Yang; Colby Navarro; Iris Silva; Przemyslaw Szafranski; Katarzyna E Kolodziejska; Avinash V Dharmadhikari; Hasnaa Mostafa; Harry Kozakewich; Debra Kearney; John B Cahill; Merrissa Whitt; Masha Bilic; Linda Margraf; Adrian Charles; Jack Goldblatt; Kathleen Gibson; Patrick E Lantz; Julian J Garvin; John Petty; ...More
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 6
33
TITLE: Nonoptical Massive Parallel DNA Sequencing of BRCA1 and BRCA2 Genes in a Diagnostic Setting Full Text
AUTHORS: Jose Luis Costa ; Sonia Sousa; Ana Justino; Teresa Kay; Susana Fernandes; Luis Cirnes; Fernando Schmitt ; Jose Carlos Machado ;
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 4
AUTHORS: Jose Luis Costa ; Sonia Sousa; Ana Justino; Teresa Kay; Susana Fernandes; Luis Cirnes; Fernando Schmitt ; Jose Carlos Machado ;
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 4
34
TITLE: Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1 Full Text
AUTHORS: Alexandra M Lopes ; Kenneth I Aston; Emma Thompson; Filipa Carvalho ; Joao Goncalves ; Ni Huang; Rune Matthiesen ; Michiel J Noordam; Ines Quintela; Avinash Ramu; Catarina Seabra; Amy B Wilfert; Juncheng C Dai; Jonathan M Downie; Susana Fernandes; Xuejiang J Guo; Jiahao H Sha; Amorim, Antonio ; Alberto Barros ; Angel Carracedo; ...More
PUBLISHED: 2013, SOURCE: PLOS GENETICS, VOLUME: 9, ISSUE: 3
AUTHORS: Alexandra M Lopes ; Kenneth I Aston; Emma Thompson; Filipa Carvalho ; Joao Goncalves ; Ni Huang; Rune Matthiesen ; Michiel J Noordam; Ines Quintela; Avinash Ramu; Catarina Seabra; Amy B Wilfert; Juncheng C Dai; Jonathan M Downie; Susana Fernandes; Xuejiang J Guo; Jiahao H Sha; Amorim, Antonio ; Alberto Barros ; Angel Carracedo; ...More
PUBLISHED: 2013, SOURCE: PLOS GENETICS, VOLUME: 9, ISSUE: 3
35
TITLE: A Novel Mutation in FOXF1 Gene Associated with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins, Intestinal Malrotation and Annular Pancreas
AUTHORS: Joana Miranda ; Gustavo Rocha; Paulo Soares; Helder Morgado; Maria Joao Baptista ; Ines Azevedo ; Susana Fernandes; Otilia Brandao; Partha Sen; Hercilia Guimaraes ;
PUBLISHED: 2013, SOURCE: NEONATOLOGY, VOLUME: 103, ISSUE: 4
AUTHORS: Joana Miranda ; Gustavo Rocha; Paulo Soares; Helder Morgado; Maria Joao Baptista ; Ines Azevedo ; Susana Fernandes; Otilia Brandao; Partha Sen; Hercilia Guimaraes ;
PUBLISHED: 2013, SOURCE: NEONATOLOGY, VOLUME: 103, ISSUE: 4
36
TITLE: The Role of Acetyl-L-Carnitine in the Mice Brain Glucose Uptake Full Text
AUTHORS: Cunha, L; Fernandes, S; Bravo, J; Mathe, D; Horvath, I; Veres, DS; Szigeti, K; Metello, LF; Summavielle, T;
PUBLISHED: 2013, SOURCE: Annual Congress of the European-Association-of-Nuclear-Medicine (EANM) in EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING, VOLUME: 40
AUTHORS: Cunha, L; Fernandes, S; Bravo, J; Mathe, D; Horvath, I; Veres, DS; Szigeti, K; Metello, LF; Summavielle, T;
PUBLISHED: 2013, SOURCE: Annual Congress of the European-Association-of-Nuclear-Medicine (EANM) in EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING, VOLUME: 40
INDEXED IN: WOS
37
TITLE: Expression Analysis of MLH3, MLH1, and MSH4 in Maturation Arrest
AUTHORS: Cristina Ferras ; Susana Fernandes; Joaquina Silva; Alberto Barros ; Mario Sousa ;
PUBLISHED: 2012, SOURCE: REPRODUCTIVE SCIENCES, VOLUME: 19, ISSUE: 6
AUTHORS: Cristina Ferras ; Susana Fernandes; Joaquina Silva; Alberto Barros ; Mario Sousa ;
PUBLISHED: 2012, SOURCE: REPRODUCTIVE SCIENCES, VOLUME: 19, ISSUE: 6
38
TITLE: AZFb microdeletions and oligozoospermia-which mechanisms?
AUTHORS: Ana Rita Soares; Paula Costa; Joaquina Silva; Mario Sousa ; Alberto Barros ; Susana Fernandes;
PUBLISHED: 2012, SOURCE: FERTILITY AND STERILITY, VOLUME: 97, ISSUE: 4
AUTHORS: Ana Rita Soares; Paula Costa; Joaquina Silva; Mario Sousa ; Alberto Barros ; Susana Fernandes;
PUBLISHED: 2012, SOURCE: FERTILITY AND STERILITY, VOLUME: 97, ISSUE: 4
39
TITLE: A novel splicing mutation causes analbuminemia in a Portuguese boy Full Text
AUTHORS: Gianluca Caridi; Monica Dagnino; Marco Di Duca; Helena Pinto; Maria do Ceu Espinheira; Antonio Guerra ; Susana Fernandes; Monica Campagnoli; Monica Galliano; Lorenzo Minchiotti;
PUBLISHED: 2012, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 105, ISSUE: 3
AUTHORS: Gianluca Caridi; Monica Dagnino; Marco Di Duca; Helena Pinto; Maria do Ceu Espinheira; Antonio Guerra ; Susana Fernandes; Monica Campagnoli; Monica Galliano; Lorenzo Minchiotti;
PUBLISHED: 2012, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 105, ISSUE: 3
40
TITLE: Determinants of relapse and survival in completely ressected non small cell lung cancer Full Text
AUTHORS: Filipa Soares Pires; Gabriela Fernandes; Ana Paula Vaz; Antonio Morais; Conceicao Souto Moura; Pedro Bastos; Venceslau Hespanhol;
PUBLISHED: 2012, SOURCE: EUROPEAN RESPIRATORY JOURNAL, VOLUME: 40
AUTHORS: Filipa Soares Pires; Gabriela Fernandes; Ana Paula Vaz; Antonio Morais; Conceicao Souto Moura; Pedro Bastos; Venceslau Hespanhol;
PUBLISHED: 2012, SOURCE: EUROPEAN RESPIRATORY JOURNAL, VOLUME: 40
INDEXED IN: WOS