21
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
22
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
23
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
24
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
25
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
27
TITLE: Chromosome 18p11.31p11.23 Triplication  Full Text
AUTHORS: Vera Lima ; Joel Pinto; Francisco Valente; Cristina Godinho; Sergio Castedo; Alberto Barros; Sofia Doria ;
PUBLISHED: 2019, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 12
INDEXED IN: WOS
28
TITLE: Epigenetic modifications could contribute for second trimester pregnancy spontaneous losses  Full Text
AUTHORS: Sara Vasconcelos; Ramalho C ; Joana Marques ; Sofia Doria ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
29
TITLE: Identification of Copy Number Variation by array CGH in Portuguese Children Diagnosed with Autism Spectrum Disorders  Full Text
AUTHORS: Sidonie Monteiro; Joel Pinto; Miguel Leao; Sofia Doria ;
PUBLISHED: 2019, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 12
INDEXED IN: WOS
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