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Sofia Dória Príncipe dos Santos Cerveira
AuthID:
R-000-K7H
Publications
Confirmed
To Validate
Document Source:
All
Document Type:
All Document Types
Article (36)
Abstract (19)
Review (3)
Editorial Material (1)
Letter (1)
Note (1)
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Order:
Year Dsc
Year Asc
Cit. WOS Dsc
IF WOS Dsc
Cit. Scopus Dsc
IF Scopus Dsc
Title Asc
Title Dsc
Results:
10
20
30
40
50
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:
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