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Nuno Miguel da Silva Maia
AuthID:
R-00H-H5S
Publications
Confirmed
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Document Type:
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Abstract (2)
Article (2)
Year Start - End:
2011
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2019
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2022
2023
2024
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2024
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2015
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2011
Order:
Year Dsc
Year Asc
Cit. WOS Dsc
IF WOS Dsc
Cit. Scopus Dsc
IF Scopus Dsc
Title Asc
Title Dsc
Results:
10
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Confirmed Publications: 4
1
TITLE:
A tailored stepwise strategy for improving diagnostic yield in intellectual disability and developmental disorders
Full Text
AUTHORS:
Maia, Nuno
; de Brouwer, Arjan P. M.;
Jorge, Paula
;
PUBLISHED:
2023
,
SOURCE:
55th European-Society-of-Human-Genetics (ESHG) Conference
in
EUROPEAN JOURNAL OF HUMAN GENETICS,
VOLUME:
31
INDEXED IN:
WOS
2
TITLE:
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?
Full Text
AUTHORS:
Maia, N
;
Sa, MJN
;
Cláudia Oliveira
;
Santos, F
;
Soares, CA
; Prior, C; Tkachenko, N;
Santos, R
; de Brouwer, APM;
Jacome, A
;
Porto, B
;
Jorge, P
;
PUBLISHED:
2022
,
SOURCE:
GENES,
VOLUME:
13,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
3
TITLE:
Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis
Full Text
AUTHORS:
Rodrigues, Barbara
;
Goncalves, Ana
; Sousa, Vanessa;
Maia, Nuno
;
Marques, Isabel
;
Vale Fernandes, Emidio
;
Santos, Rosario
;
Nogueira, Antonio J. A.
;
Jorge, Paula
;
PUBLISHED:
2022
,
SOURCE:
GENES,
VOLUME:
13,
ISSUE:
3
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
4
TITLE:
High performing AmplideX PCR/CE for Myotonic Dystrophy type 1 is concordant with a combination of PCR and Southern Blot analysis
Full Text
AUTHORS:
Isabel Marques
;
Nuno Maia
;
Rosario Santos, MR
;
PUBLISHED:
2019
,
SOURCE:
22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH)
in
MEDICINE,
VOLUME:
98,
ISSUE:
26
INDEXED IN:
WOS
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