21
TITLE: Deregulation of imprinted genes expression and epigenetic regulators in placental tissue from intrauterine growth restriction  Full Text
AUTHORS: Canicais, C; Vasconcelos, S; Ramalho C ; Marques, CJ ; Doria, S ;
PUBLISHED: 2021, SOURCE: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, VOLUME: 38, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 11
22
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: 16
23
TITLE: 12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?  Full Text
AUTHORS: Doria, S ; Alves, D; Pinho, MJ; Pinto, J ; Leao, M;
PUBLISHED: 2020, SOURCE: BMC MEDICAL GENOMICS, VOLUME: 13, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 5
24
TITLE: 46,XX male disorder of sexual development  Full Text
AUTHORS: Adriao, M; Ferreira, S; Silva, RS ; Garcia, M; Doria, S ; Costa, C ; Castro Correia, C ; Fontoura, M ;
PUBLISHED: 2020, SOURCE: CLINICAL PEDIATRIC ENDOCRINOLOGY, VOLUME: 29, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 6
25
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
26
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
27
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: 22
28
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
29
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
Page 3 of 8. Total results: 75.