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Natália Maria Paiva de Oliva Teles
AuthID:
R-00H-25B
Publications
Confirmed
To Validate
Document Source:
All
Document Type:
All Document Types
Abstract (3)
Article (1)
Review (1)
Year Start - End:
2015
2016
2017
2018
2019
2020
2021
2022
2023
2024
-
2024
2023
2022
2021
2020
2019
2018
2017
2016
2015
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: 5
1
TITLE:
A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)
AUTHORS:
Da Silva, Jorge Diogo;
Oliva Teles, Natalia
; Tkachenko, Nataliya;
Fino, Joana
; Marques, Mariana; Fortuna, Ana Maria;
David, Dezso
;
PUBLISHED:
2023
,
SOURCE:
BIOMEDICINES,
VOLUME:
11,
ISSUE:
1
INDEXED IN:
Scopus
WOS
2
TITLE:
DEVELOPMENTAL DELAY IN A PATIENT WITH THREE INHERITED CHROMOSOME REARRANGEMENTS
Full Text
AUTHORS:
Pires, Silvia; Candeias, Cristina; Freitas, Manuela M.;
Soares, Ana R.
;
Oliva Teles, Natalia
;
PUBLISHED:
2023
,
SOURCE:
26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH)
in
MEDICINE,
VOLUME:
102,
ISSUE:
13
INDEXED IN:
WOS
3
TITLE:
PATHWAYS INVOLVED IN THE DOWNSTREAM EFFECTS OF CHROMOSOME 17Q12 MICRODELETION SYNDROME: INSIGHTS ON POSSIBLE CAUSES FOR DIFFERENT SYMPTOMS
Full Text
AUTHORS:
Costa, Julieta;
Ehrhart, Friederike
; Candeias, Cristina;
Oliva Teles, Natalia
;
PUBLISHED:
2023
,
SOURCE:
26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH)
in
MEDICINE,
VOLUME:
102,
ISSUE:
13
INDEXED IN:
WOS
4
TITLE:
A 3,195 kb duplication at 2q14.3 in a proband with a t(17;19)(p13.1;p13.3)mat is most likely associated with craniofacial dimorphisms, developmental and neurological anomalies
AUTHORS:
Oliva Teles, Natalia
; Marques, Mariana; Mota Freitas, Manuela; Candeias, Cristina;
Fino, Joana
; Fortuna, Ana; David, Dezso;
PUBLISHED:
2022
,
SOURCE:
EUROPEAN JOURNAL OF HUMAN GENETICS,
VOLUME:
30,
ISSUE:
SUPPL 1
INDEXED IN:
WOS
5
TITLE:
Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature
Full Text
AUTHORS:
Natalia Oliva Teles
;
Maria Chiara de Stefano
; Louise Gallagher; Severin Rakic;
Paula Jorge
; Goran Cuturilo; Silvana Markovska Simoska; Isabella Borg;
Jeanne Wolstencroft
; Zeynep Tumer; Adrian J Harwood; Yllka Kodra;
David Skuse
;
PUBLISHED:
2020
,
SOURCE:
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH,
VOLUME:
17,
ISSUE:
24
INDEXED IN:
Scopus
WOS
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