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1 . Academic Journal
Higher Prevalence of Nonsense Pathogenic DMD Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments
저자
by
Vitor Lucas Lopes Braga
;
Danielle Pessoa Lima
;
Tamiris Carneiro Mariano
;
Pedro Lucas Grangeiro de Sá Barreto Lima
;
Ana Beatriz de Almeida Maia
, et al.
소스
Brain Sciences, Vol 13, Iss 11, p 1521 (2023)
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7 . Academic Journal
Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility
저자
by
Gustavo Rodrigues Ferreira Gomes
;
Tamiris Carneiro Mariano
;
Vitor Lucas Lopes Braga
;
Erlane Marques Ribeiro
;
Ingred Pimentel Guimarães
, et al.
소스
Brain Sciences, Vol 13, Iss 8, p 1184 (2023)
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7 . Academic Journal
Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment
저자
by
Paulo Ribeiro Nóbrega
;
Anderson Moura Bernardes
;
Rodrigo Mariano Ribeiro
;
Sophia Costa Vasconcelos
;
David Augusto Batista Sá Araújo
, et al.
소스
Frontiers in Neurology, Vol 13 (2022)
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7 . Academic Journal
Neuropsychological Characterization of Autosomal Recessive Intellectual Developmental Disorder 59 Associated with IMPA1 (MRT59)
저자
by
Andre Luiz Santos Pessoa
;
Andrea Amaro Quesada
;
Paulo Ribeiro Nóbrega
;
Ana Priscila Oliveira Viana
;
Kécia Tavares de Oliveira
, et al.
소스
Brain Sciences, Vol 13, Iss 7, p 1048 (2023)
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7 . Academic Journal
Finnish Variant of Late Infantile Ceroid Neuronal Lipofuscinosis (fvLINCL); Atypical Finding on Magnetic Resonance Imaging
저자
by
Antonio Gomes Lima Júnior
;
Nina Maia Pinheiro de Abreu
;
João Paulo Carmo Rodrigues
;
Marcus Vinícius Buratti Leal
;
Anielly Sampaio Clarindo
, et al.
소스
International Clinical Neuroscience Journal, Vol 8, Iss 4, Pp 205-207 (2021)
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7 . Academic Journal
Condições de vida e acesso às políticas sociais das famílias de crianças com Síndrome Congênita pelo vírus Zika atendidas em Fortaleza, Ceará, em dezembro de 2016
저자
by
Larissa Loiola Batista
;
Noeme Moreira Andrade
;
Ana Paula Girão Lessa
;
Luana Elayne Cunha de Souza
;
Natália Macedo Cysne Costa
, et al.
소스
Revista de Medicina da UFC, Vol 60, Iss 2, Pp 5-10 (2020)
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7 . Academic Journal
A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case
저자
by
Claudia Ismania Samogy-Costa
;
Elisa Varella-Branco
;
Frederico Monfardini
;
Helen Ferraz
;
Rodrigo Ambrósio Fock
, et al.
소스
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-10 (2019)
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7 . Academic Journal
Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: Results from a survey with 228 patients and their caregivers
저자
by
Ana Maria Martins
;
Andre Luiz Santos Pessoa
;
Andrea Amaro Quesada
;
Erlane Marques Ribeiro
.
소스
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100624- (2020)
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6 . Academic Journal
Abortion in Cases of Zika Virus Congenital Infection
저자
by
Vivian Maria Ribeiro Mota
;
Luciano Pamplona de Góes Cavalcanti
;
Alanna dos Santos Delfino
;
Thayse Elaine Costa Figueiredo Lopes
;
André Luiz Santos Pessoa
, et al.
소스
Revista Brasileira de Ginecologia e Obstetrícia, Vol 40, Iss 7, Pp 417-424 (2018)
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7 . Academic Journal
Triagem auditiva de crianças com síndrome congênita pelo vírus Zika atendidas em Fortaleza, Ceará, 2016
저자
by
Rebeka Ferreira Pequeno Leite
;
Marinisi Sales Aragão Santos
;
Erlane Marques Ribeiro
;
André Luiz Santos Pessoa
;
Doris Ruthy Lewis
, et al.
소스
Epidemiologia e Serviços de Saúde, Vol 27, Iss 4 (2018)
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