ProfileOfResearchers

TITLE: Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V
AUTHORS: Da Silva, Jorge Diogo; Pereira, Angela; Soares, Ana Rita; Guimas, Arlindo; Rocha, Sara; Cardoso, Marcio; Garrido, Cristina; Soares, Celia Azevedo ; Nunes, Isabel Serra; Fortuna, Ana Maria; Quelhas, Dulce ; Figueiroa, Sonia; Ribeiro, Rosa; Santos, Manuela; Martins, Esmeralda ; Tkachenko, Nataliya ;
PUBLISHED: 2023, SOURCE: PEDIATRIC RESEARCH

INDEXED IN:

Scopus

WOS

INDEXED IN:

Scopus

WOS

TITLE: EYS-ASSOCIATED RETINAL DEGENERATION: NATURAL HISTORY, GENETIC LANDSCAPE AND PHENOTYPIC SPECTRUM
AUTHORS: Soares, Ricardo; Carvalho, Ana; Simao, Silvia; Soares, Celia ; Raimundo, Miguel; Alves, Henrique; Ambrosio, Antonio; Murta, Joaquim; Saraiva, Jorge; Silva, Rufino; Marques, Joao;
PUBLISHED: 2023, SOURCE: Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology (ARVO) in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, VOLUME: 64, ISSUE: 8

INDEXED IN:

WOS

TITLE: Follow-up of family members of children with mtDNA-associated Leigh syndrome Full Text
AUTHORS: Soares, Celia Azevedo ; Coelho, Margarida Paiva; Bandeira, Anabela; Martins, Rute; Ribeiro, Rosa; Tkachenko, Natalia; Fortuna, Ana Maria; Martins, Esmeralda;
PUBLISHED: 2023, SOURCE: 55th European-Society-of-Human-Genetics (ESHG) Conference in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 31

INDEXED IN:

WOS

TITLE: Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center
AUTHORS: Soares, Celia Azevedo ; Tkachenko, Natalia; Vale Fernandes, Emidio ; Barreiro, Marcia; Abreu, Maria; Reis, Claudia Falcao; Soares, Gabriela; Fortuna, Ana Maria; Soares, Ana Rita;
PUBLISHED: 2023, SOURCE: JORNAL BRASILEIRO DE REPRODUCAO ASSISTIDA, VOLUME: 27, ISSUE: 2

INDEXED IN:

Scopus

WOS

TITLE: PARADIGM SHIFT IN PHENYLKETONURIA NEURODEVELOPMENTAL OUTCOMES - RETROSPECTIVE COHORT ANALYSIS Full Text
AUTHORS: Soares, Celia Azevedo ; Almeida, Manuela Ferreira ; Fortuna, Ana Maria; Carmona, Carla ;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13

INDEXED IN:

WOS

TITLE: Predicting factors of neurodevelopmental performance in children with phenylketonuria Full Text
AUTHORS: Soares, Celia Azevedo ; Almeida, Manuela Ferreira ; Soares, Gabriela; Tkachenko, Natalia; Fortuna, Ana Maria; Carmona, Carla ;
PUBLISHED: 2023, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A

INDEXED IN:

Scopus

WOS

TITLE: THE IMPORTANCE OF CLINICAL GENETICS IN THE ASSESSMENT OF CRANIOSYNOSTOSIS - FINDINGS FROM A CASE SERIES Full Text
AUTHORS: Capela, Ana Miguel; Marques, Isabel; Costa, Tiago Ribeiro; Menezes, Catarina; Mota, Ceu; Soares, Ana Rita; Soares, Celia Azevedo ; Tkachenko, Nataliya; Fortuna, Ana Maria; Santos, Rosario; Reis, Claudia Falcao;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13

INDEXED IN:

WOS

TITLE: Phenotypic characteristics of two patients with mandibulofacial dysostosis - Guion Almeida type Full Text
AUTHORS: Celia Azevedo Soares ; Ana Maria Fortuna; Gabriela Soares;
PUBLISHED: 2020, SOURCE: 23rd Annual Meeting of the Portuguese-Society-of-Human-Genetics in MEDICINE, VOLUME: 99, ISSUE: 9

INDEXED IN:

WOS

TITLE: Phenotypic description of patients with chromosome 3q29 deletion or duplication Full Text
AUTHORS: Celia Azevedo Soares ; Ana Rita A Azevedo Soares; Teresa Saraiva; Gabriela Soares; Maria Joao N Nabais Sa; Ana Maria Fortuna;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26

INDEXED IN:

WOS

Useful Links