Jorge Manuel Tavares Lopes de Andrade Saraiva
AuthID: R-000-KA9
1
TITLE: GENETIC AND CLINICAL CHARACTERIZATION OF PATIENTS WITH CYP1B1 GENE BIALLELIC VARIANTS Full Text
AUTHORS: Lima Caldeira, Gladys Tarcila; Carvalho, Ana Luisa; Egas, Conceicao; Sobral, Isa; Saraiva, Jorge M.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Lima Caldeira, Gladys Tarcila; Carvalho, Ana Luisa; Egas, Conceicao; Sobral, Isa; Saraiva, Jorge M.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: 
WOS
WOS2
TITLE: RING CHROMOSOME 20 SYNDROME: TWO CASES REPORT WITH REFRACTORY FRONTAL LOBE SEIZURES AND LEARNING DISABILITIES Full Text
AUTHORS: Matoso, Eunice; Estevinho, Alexandra; Serrano, Margarida; Laco, Mario N.; Bento, Conceicao; Saraiva, Jorge M.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Matoso, Eunice; Estevinho, Alexandra; Serrano, Margarida; Laco, Mario N.; Bento, Conceicao; Saraiva, Jorge M.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
WOS3
TITLE: 16p11.2 microdeletion: a common copy number variation (CNV) identified in a Portuguese pediatric cohort with syndromic obesity
AUTHORS: Rosmaninho Salgado, Joana; Sousa, Sergio B.; Pires, Luis M.; Ferreira, Susana; Melo, Joana B.; Carreira, Isabel M.; Saraiva, Jorge M.;
PUBLISHED: 2023, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 96
AUTHORS: Rosmaninho Salgado, Joana; Sousa, Sergio B.; Pires, Luis M.; Ferreira, Susana; Melo, Joana B.; Carreira, Isabel M.; Saraiva, Jorge M.;
PUBLISHED: 2023, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 96
INDEXED IN: WOS
WOS4
TITLE: <i>MC4R</i> deficiency in a portuguese pediatric cohort study
AUTHORS: Mendes, Ariana C.; Pereira, Janet; Mirante, Alice; Saraiva, Jorge M.; Soares, Ana R.; Sousa, Sergio B.; Rosmaninho Salgado, Joana;
PUBLISHED: 2023, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 96
AUTHORS: Mendes, Ariana C.; Pereira, Janet; Mirante, Alice; Saraiva, Jorge M.; Soares, Ana R.; Sousa, Sergio B.; Rosmaninho Salgado, Joana;
PUBLISHED: 2023, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 96
INDEXED IN: WOS
WOS5
TITLE: National consensus survey on management approaches for upper urinary tract obstruction: A comparative analysis of retrograde ureteric stent and percutaneous nephrostomy
AUTHORS: Quaresma, Vasco; Magalhaes, Francisca; Marconi, Lorenzo; Lima, Joao; Lopes, Manuel; Ferreira, Ana Marta; Nunes, Pedro; Figueiredo, Arnaldo;
PUBLISHED: 2023, SOURCE: ARCHIVIO ITALIANO DI UROLOGIA E ANDROLOGIA, VOLUME: 95, ISSUE: 4
AUTHORS: Quaresma, Vasco; Magalhaes, Francisca; Marconi, Lorenzo; Lima, Joao; Lopes, Manuel; Ferreira, Ana Marta; Nunes, Pedro; Figueiredo, Arnaldo;
PUBLISHED: 2023, SOURCE: ARCHIVIO ITALIANO DI UROLOGIA E ANDROLOGIA, VOLUME: 95, ISSUE: 4
INDEXED IN: 
Scopus WOS
Scopus WOS6
TITLE: Variable expressivity of 22q11.2 microduplications: an investigation of 13 cases toward a phenotype-genotype correlation
AUTHORS: Matoso, Eunice; Estevinho, Alexandra; Ferreira, Susana I.; Pires, Luis M.; Melo, Joana B.; Ramos, Fabiana; Ramos, Lina; Saraiva, Jorge M.; Carreira, Isabel M.;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Matoso, Eunice; Estevinho, Alexandra; Ferreira, Susana I.; Pires, Luis M.; Melo, Joana B.; Ramos, Fabiana; Ramos, Lina; Saraiva, Jorge M.; Carreira, Isabel M.;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS7
TITLE: The Public Sector's Role in Fostering Development in Low-Density Areas. The Case of Housing Tourism
AUTHORS: José Luís Braga; Jorge Manuel Lopes;
PUBLISHED: 2020, SOURCE: Advances in Hospitality, Tourism, and the Services Industry - Global Opportunities and Challenges for Rural and Mountain Tourism
AUTHORS: José Luís Braga; Jorge Manuel Lopes;
PUBLISHED: 2020, SOURCE: Advances in Hospitality, Tourism, and the Services Industry - Global Opportunities and Challenges for Rural and Mountain Tourism
INDEXED IN: 
CrossRef
CrossRef8
TITLE: Impact of pH on the high-pressure inactivation of microbial transglutaminase Full Text
AUTHORS: Rui P Queirós; Sónia Gouveia; Jorge A Saraiva; José A Lopes-da-Silva;
PUBLISHED: 2019, SOURCE: Food Research International, VOLUME: 115
AUTHORS: Rui P Queirós; Sónia Gouveia; Jorge A Saraiva; José A Lopes-da-Silva;
PUBLISHED: 2019, SOURCE: Food Research International, VOLUME: 115
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TITLE: A familial case with a ZMYND11 mutation: syndromic intellectual disability with a recognizable phenotype Full Text
AUTHORS: Pedro M Almeida; Fabiana Ramos; Jorge Saraiva;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Pedro M Almeida; Fabiana Ramos; Jorge Saraiva;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
WOS10
TITLE: Cockayne Syndrome: a new phenotype related to a already described variant Full Text
AUTHORS: Pedro M Almeida; Sara M Ribeiro; Isabel Monteiro; Fabiana Ramos; Jorge Saraiva; Lina Ramos;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Pedro M Almeida; Sara M Ribeiro; Isabel Monteiro; Fabiana Ramos; Jorge Saraiva; Lina Ramos;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
WOS