Elsa Susana Pinto Garcia Carvalho
AuthID: R-002-PZR
1
TITLE: CAKUT SPECTRUM: RENAL HYPODYSPLASIA/APLASIA TYPE 3 PRENATAL DIAGNOSIS ACHIEVED BY WES. CASE REPORT Full Text
AUTHORS: Garcia, Elsa; Castro, Lisandra; Conceicao, Ariana; Salgueiro, Natalia; Santos, Fernando; Pereira, Nuno; Cerveira, Isabel; Moreira, Marta; Mendes, Celia; Lima, Margarida Reis;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Garcia, Elsa; Castro, Lisandra; Conceicao, Ariana; Salgueiro, Natalia; Santos, Fernando; Pereira, Nuno; Cerveira, Isabel; Moreira, Marta; Mendes, Celia; Lima, Margarida Reis;
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: AUTOSOMAL DOMINANT TUBB3-RELATED DISORDER DETECTED IN A PRENATAL CASE. THE IMPORTANCE OF WES IN THE DIAGNOSTIC OF PRE-NATAL ANOMALIES Full Text
AUTHORS: Salgueiro, Natalia; Conceicao, Ariana; Castro, Lisandra; Moreira, Marta; Mendes, Celia; Garcia, Elsa; Cardoso, Marcia; Santos, Fernando; Pereira, Nuno; Cerveira, Isabel; Lima, Margarida R.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Salgueiro, Natalia; Conceicao, Ariana; Castro, Lisandra; Moreira, Marta; Mendes, Celia; Garcia, Elsa; Cardoso, Marcia; Santos, Fernando; Pereira, Nuno; Cerveira, Isabel; Lima, Margarida R.;
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: A novel genetic mutation in a Portuguese family with GCK-MODY
AUTHORS: Claudia Almeida; Sonia Regina Silva; Elsa Garcia; Ana Luisa Leite; Andreia Teles; Rosa Armenia Campos;
PUBLISHED: 2014, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 27, ISSUE: 1-2
AUTHORS: Claudia Almeida; Sonia Regina Silva; Elsa Garcia; Ana Luisa Leite; Andreia Teles; Rosa Armenia Campos;
PUBLISHED: 2014, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 27, ISSUE: 1-2
