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1 . Academic Journal
The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023
저자
by
Caio Robledo D’Angioli Costa Quaio
;
José Ricardo Magliocco Ceroni
;
Michele Araújo Pereira
;
Anne Caroline Barbosa Teixeira
;
Renata Yoshiko Yamada
, et al.
소스
Human Genomics, Vol 17, Iss 1, Pp 1-15 (2023)
Open Access (BioMed Central)
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7 . Academic Journal
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes
저자
by
Caio Robledo D’ Angioli Costa Quaio
;
Antonio Victor Campos Coelho
;
Livia Maria Silva Moura
;
Rafael Lucas Muniz Guedes
;
Kelin Chen
, et al.
소스
Frontiers in Genetics, Vol 13 (2022)
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7 .
Clinical and molecular evaluation of 13 Brazilian patients with
Gomez‐López‐Hernández
syndrome
저자
by
Rafael Maffei Loureiro
;
Marcela Amaral Avelino Jacobina
;
Vânia D'Almeida
;
Carla Graziadio
;
Luiza do Amaral Virmond
, et al.
소스
American Journal of Medical Genetics Part A
. 185:1047-1058
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7 .
Congenital afibrinogenemia in a patient with vascular abnormalities and a novel variant: clinical-molecular description and literature review
저자
by
Fernanda Milanezi
;
Christiane M S Pinto
;
Viviane Nakano
;
Cecília Micheletti
;
Maria Fernanda Soares
, et al.
소스
Blood Coagulation & Fibrinolysis
. 31:65-70
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7 .
A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review
저자
by
Marina de França Basto
;
Ariane Falconi
;
Viviane Nakano
;
Mirlene C. S. P. Cernach
;
Joselito Sobreira Filho
, et al.
소스
European Journal of Medical Genetics
. 64:104195
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7 .
Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review
저자
by
Luiza do Amaral Virmond
;
Maria de Fátima de Faria Soares
;
Simone Brasil de Oliveira Iglesias
;
Juliana Silva
;
Marco A. Curiati
, et al.
소스
Genetics and Molecular Biology, Vol 43, Iss 2
Genetics and Molecular Biology, Volume: 43, Issue: 2, Article number: e20180271, Published: 29 MAY 2020
Genetics and Molecular Biology
Open Access (OpenAIRE)
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