Francisca Diaz Gonzalez
AuthID: R-00J-NTW
1
TITLE: Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases Full Text
AUTHORS: Diaz Gonzalez, Francisca; Parron Pajares, Manuel; Lucas Castro, Elsa; Modamio Hoybjor, Silvia; Sentchordi Montane, Lucia; Seidel, Veronica; Prieto, Pablo; Tarraso Urios, Guillermo; Codina Sola, Marta; Cueto Gonzalez, Anna. M.; Ballesta Martinez, Mary. J.; Santos Simarro, Fernando; Sousa, Sergio. B.; Heath, Karen. E.;
PUBLISHED: 2023, SOURCE: CLINICAL GENETICS
AUTHORS: Diaz Gonzalez, Francisca; Parron Pajares, Manuel; Lucas Castro, Elsa; Modamio Hoybjor, Silvia; Sentchordi Montane, Lucia; Seidel, Veronica; Prieto, Pablo; Tarraso Urios, Guillermo; Codina Sola, Marta; Cueto Gonzalez, Anna. M.; Ballesta Martinez, Mary. J.; Santos Simarro, Fernando; Sousa, Sergio. B.; Heath, Karen. E.;
PUBLISHED: 2023, SOURCE: CLINICAL GENETICS
INDEXED IN: 
WOS
WOS2
TITLE: Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder <i>SERPINF1</i> variant
AUTHORS: Travessa, Andre M.; Dias, Patricia; Rosmaninho Salgado, Joana; Aza Carmona, Miriam; Moldovan, Oana; Diaz Gonzalez, Francisca; Godinho, Fatima; Romeu, Jose Carlos; Oliveira Ramos, Filipa; Barteriros, Maria do Ceu; Sousa, Sergio B.; Heath, Karen E.; Sousa, Ana Berta;
PUBLISHED: 2023, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 66, ISSUE: 11
AUTHORS: Travessa, Andre M.; Dias, Patricia; Rosmaninho Salgado, Joana; Aza Carmona, Miriam; Moldovan, Oana; Diaz Gonzalez, Francisca; Godinho, Fatima; Romeu, Jose Carlos; Oliveira Ramos, Filipa; Barteriros, Maria do Ceu; Sousa, Sergio B.; Heath, Karen E.; Sousa, Ana Berta;
PUBLISHED: 2023, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 66, ISSUE: 11
INDEXED IN: 
Scopus WOS
Scopus WOS3
TITLE: Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare typeIIcollagenopathy Full Text
AUTHORS: Andre M Travessa; Francisca Diaz Gonzalez; Teresa Mirco; Filipa Oliveira Ramos; Manuel Parron Pajares; Karen E Heath; Ana Berta Sousa;
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 182, ISSUE: 11
AUTHORS: Andre M Travessa; Francisca Diaz Gonzalez; Teresa Mirco; Filipa Oliveira Ramos; Manuel Parron Pajares; Karen E Heath; Ana Berta Sousa;
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 182, ISSUE: 11
INDEXED IN: Scopus WOS
Scopus WOS