Sofia Dória Príncipe dos Santos Cerveira


AuthID: R-000-K7H

Confirmed Publications: 61



11
TITLE: X-chromosome inactivation: implications in human disease  Full Text
AUTHORS: Pereira, G; Doria, S ;
PUBLISHED: 2021, SOURCE: JOURNAL OF GENETICS, VOLUME: 100, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 15
IN MY: ORCID
12
TITLE: 12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?  Full Text
AUTHORS: Sofia Doria ; Daniela Alves; Maria Joao Pinho; Joel Pinto; Miguel Leao;
PUBLISHED: 2020, SOURCE: BMC MEDICAL GENOMICS, VOLUME: 13, ISSUE: 1
INDEXED IN: WOS
IN MY: ORCID
13
TITLE: 12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?  Full Text
AUTHORS: Dória, S ; Alves, D; Pinho, MJ; Pinto, J; Leão, M;
PUBLISHED: 2020, SOURCE: BMC medical genomics, VOLUME: 13, ISSUE: 1
INDEXED IN: Scopus CrossRef: 5
IN MY: ORCID
14
TITLE: 46,XX male disorder of sexual development
AUTHORS: Mariana Adriao; Sofia Ferreira; Rita Santos Silva ; Maria Garcia; Sofia Doria ; Carla Costa ; Cintia Castro Correia ; Manuel Fontoura ;
PUBLISHED: 2020, SOURCE: CLINICAL PEDIATRIC ENDOCRINOLOGY, VOLUME: 29, ISSUE: 1
INDEXED IN: WOS
IN MY: ORCID
15
TITLE: 46,XX male disorder of sexual development  Full Text
AUTHORS: Adrião, M; Ferreira, S; Silva, RS ; Garcia, M; Dória, S ; Costa, C ; Castro Correia, C; Fontoura, M;
PUBLISHED: 2020, SOURCE: Clinical Pediatric Endocrinology, VOLUME: 29, ISSUE: 1
INDEXED IN: Scopus CrossRef: 6
IN MY: ORCID
16
TITLE: Altered expression of imprinted genes and epigenetic regulators in placental tissue from intrauterine growth restriction  Full Text
AUTHORS: Carla Canicais; Ramalho C ; Joana Marques, CJ; Sofia Doria ;
PUBLISHED: 2020, SOURCE: 23rd Annual Meeting of the Portuguese-Society-of-Human-Genetics in MEDICINE, VOLUME: 99, ISSUE: 9
INDEXED IN: WOS
IN MY: ORCID
17
TITLE: Array-CGH: importance in the study of developmental delays in pediatrics
AUTHORS: Pinheiro, MI ; Silva, C; Lourenco, L ; Goncalves, D ; Doria, S ; Guardiano, M; Leao, M;
PUBLISHED: 2020, SOURCE: REVISTA DE NEUROLOGIA, VOLUME: 71, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID
18
TITLE: Premature ovarian insufficiency: clinical orientations for genetic testing and genetic counseling
AUTHORS: Francisco Barros; Filipa Carvalho ; Alberto Barros; Sofia Dória ;
PUBLISHED: 2020, SOURCE: Porto Biomedical Journal, VOLUME: 5, ISSUE: 3
INDEXED IN: CrossRef: 18
IN MY: ORCID
19
TITLE: Progressive Microcephaly, Spasticity and Development Delay: Novel SLC1A4 Variants in Two Portuguese Families and Literature Review
AUTHORS: Joana Teixeira; Sofia Dória ; Mariana Santos; Isabel Alonso; Miguel Leão;
PUBLISHED: 2020, SOURCE: Genetics & Genomic Sciences, VOLUME: 5, ISSUE: 1
INDEXED IN: CrossRef
IN MY: ORCID
20
TITLE: Relevancia de los arrays de hibridación genómica comparada en el estudio de los retrasos del desarrollo en pediatría
AUTHORS: Marta Isabel Pinheiro; Carmen Silva; Lara Lourenço; Daniel Gonçalves; Sofia Dória ; Micaela Guardiano; Miguel Leão;
PUBLISHED: 2020, SOURCE: Revista de Neurología
INDEXED IN: Unpaywall
Página 2 de 7. Total de resultados: 61.

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