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TITLE: Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature
AUTHORS: Vasconcelos, Alice P.; Nogueira, Ana; Matos, Pedro; Pinto, Joel; Pinho, Maria Joao; Fernandes, Susana; Doria, Sofia ; Carla Pinto Moura ;
PUBLISHED: 2023, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 66, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
4
TITLE: 12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?  Full Text
AUTHORS: Doria, S ; Alves, D; Pinho, MJ; Pinto, J ; Leao, M;
PUBLISHED: 2020, SOURCE: BMC MEDICAL GENOMICS, VOLUME: 13, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 5
5
TITLE: Discordance between human sperm quality and telomere length following differential gradient separation/swim-up  Full Text
AUTHORS: Lopes, AC; Oliveira, PF ; Pinto, S; Almeida, C ; Pinho, MJ; Sa, R ; Rocha, Eduardo ; Barros, A ; Sousa, M ;
PUBLISHED: 2020, SOURCE: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, VOLUME: 37, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef: 12
6
TITLE: Sperm telomere length is correlated with sperm quality in normozoospermic patients
AUTHORS: Lopes, AC; Fontes Oliveira, PF ; Pinto, S; Almeida, C; Pinho, MJ; Sa, R ; Barros, A ; Sousa, M;
PUBLISHED: 2019, SOURCE: 35th Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology (ESHRE) in HUMAN REPRODUCTION, VOLUME: 34
INDEXED IN: WOS
7
TITLE: Discovery of s Cardiac Role for a "Neuronal Protein", Reduced Levels of Disrupted in Schizophrenia 1 (DISC1) in the Heart Causes Cardiac Deterioration and Mitochondrial Dysfunction
AUTHORS: Maria J Pinho; Nathan R Scrimgeour; Mathias Nyman; Francisco J Enguita; Koko Ishizuka; Akira Sawa; Morten A Hoydal;
PUBLISHED: 2019, SOURCE: Scientific Sessions of the American-Heart-Association in CIRCULATION RESEARCH, VOLUME: 125, ISSUE: 12
INDEXED IN: WOS
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TITLE: Ultrastructural and cytogenetic analyses of mature human oocyte dysmorphisms with respect to clinical outcomes  Full Text
AUTHORS: Mario Sousa ; Mariana Cunha; Joaquina Silva; Elsa Oliveira ; Maria Joao Pinho; Carolina Almeida ; Rosalia Sa; Jose Teixeira da Silva; Cristiano Oliveira; Alberto Barros ;
PUBLISHED: 2016, SOURCE: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, VOLUME: 33, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 15
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TITLE: THE TERAPEUTIC POTENTIAL OF EMBRIONARY SIGNALING PATHWAYS INHIBITION IN ACUTE LYMPHOBLASTIC LEUKEMIA  Full Text
AUTHORS: Pires, A; Jorge, J; Alves, R; Ana Cristina Gonçalves ; Sarmento Ribeiro, AB;
PUBLISHED: 2016, SOURCE: 21st Congress of the European-Hematology-Association in HAEMATOLOGICA, VOLUME: 101
INDEXED IN: WOS
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TITLE: NFE2L2, KEAP1AND NQO1GENE EXPRESSION IN MYELODYSPLASTIC SYNDROME AND MONOCLONAL GAMMOPATHIES- CLINICAL IMPLICATIONS  Full Text
AUTHORS: Jorge, J; Ana Cristina Gonçalves ; Cortesao, E; Geraldes, C; Gomes, B; Pires, A; Fernandes, S; Alves, R; Ribeiro, L; Sarmento Ribeiro, AB;
PUBLISHED: 2016, SOURCE: 21st Congress of the European-Hematology-Association in HAEMATOLOGICA, VOLUME: 101
INDEXED IN: WOS
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