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TÃTULO: 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)
AUTORES: Da Silva, Jorge Diogo; Oliva Teles, Natalia ; Tkachenko, Nataliya; Fino, Joana; Marques, Mariana; Fortuna, Ana Maria; David, Dezso ;
PUBLICAÇÃO: 2023, FONTE: BIOMEDICINES, VOLUME: 11, NÚMERO: 1

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WOS

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ORCID

TÃTULO: DEVELOPMENTAL DELAY IN A PATIENT WITH THREE INHERITED CHROMOSOME REARRANGEMENTS Full Text
AUTORES: Pires, Silvia; Candeias, Cristina; Freitas, Manuela M.; Soares, Ana R.; Oliva Teles, Natalia ;
PUBLICAÇÃO: 2023, FONTE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, NÚMERO: 13

INDEXADO EM:

WOS

TÃTULO: PATHWAYS INVOLVED IN THE DOWNSTREAM EFFECTS OF CHROMOSOME 17Q12 MICRODELETION SYNDROME: INSIGHTS ON POSSIBLE CAUSES FOR DIFFERENT SYMPTOMS Full Text
AUTORES: Costa, Julieta; Ehrhart, Friederike; Candeias, Cristina; Oliva Teles, Natalia ;
PUBLICAÇÃO: 2023, FONTE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, NÚMERO: 13

INDEXADO EM:

WOS

TÃTULO: 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
AUTORES: Oliva Teles, Natalia ; Marques, Mariana; Mota Freitas, Manuela; Candeias, Cristina; Fino, Joana; Fortuna, Ana; David, Dezso;
PUBLICAÇÃO: 2022, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, NÚMERO: SUPPL 1

INDEXADO EM:

WOS

TÃTULO: Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature
AUTORES: Oliva Teles, N ; de Stefano, MC; Gallagher, L; Rakic, S; Jorge, P; Cuturilo, G; Markovska Simoska, S; Borg, I; Wolstencroft, J; Tumer, Z; Harwood, AJ; Kodra, Y; Skuse, D;
PUBLICAÇÃO: 2020, FONTE: INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH, VOLUME: 17, NÚMERO: 24

INDEXADO EM:

Scopus

WOS

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