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1 . Academic Journal
LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
저자
by
Jinfeng Lu
;
Camilo Toro
;
David R. Adams
;
Undiagnosed Diseases Network
;
Cristiane Araujo Martins Moreno
, et al.
소스
BMC Genomics, Vol 25, Iss 1, Pp 1-22 (2024)
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7 . Academic Journal
GGPS1‐associated muscular dystrophy with and without hearing loss
저자
by
Rauan Kaiyrzhanov
;
Luke Perry
;
Clarissa Rocca
;
Maha S. Zaki
;
Heba Hosny
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 9, Iss 9, Pp 1465-1474 (2022)
Open Access (Wiley)
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7 . Academic Journal
Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders
저자
by
Cristiane Araujo Martins Moreno
;
Clara Gontijo Camelo
;
Pedro Henrique Marte de Arruda Sampaio
;
Alulin Tácio Quadros Santos Monteiro Fonseca
;
Eduardo de Paula Estephan
, et al.
소스
Arquivos de Neuro-Psiquiatria, Vol 80, Iss 6, Pp 563-569 (2022)
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7 . Academic Journal
Neurological consultations and diagnoses in a large, dedicated COVID-19 university hospital
저자
by
Adalberto STUDART-NETO
;
Bruno Fukelmann GUEDES
;
Raphael de Luca e TUMA
;
Antonio Edvan CAMELO FILHO
;
Gabriel Taricani KUBOTA
, et al.
소스
Arquivos de Neuro-Psiquiatria, Vol 78, Iss 8, Pp 494-500 (2020)
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7 . Academic Journal
Myasthenia Gravis Related to Thymic Carcinoma: A Case Study
저자
by
Daniel Thomas Pereira Lopes
;
Samila Marissa Pinheiro Gomes
;
Sheila Aparecida Coelho Siqueira
;
Fernando Pereira Frassetto
;
Pedro Henrique Martins Arruda Sampaio
, et al.
소스
The Thoracic & Cardiovascular Surgeon Reports, Vol 09, Iss 01, Pp e33-e36 (2020)
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7 . Academic Journal
Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient
저자
by
Eduardo de Paula Estephan
;
Cristiane Araújo Martins Moreno
;
André Macedo Serafim da Silva
;
Rodrigo de Holanda Mendonça
;
Osório Abath Neto
, et al.
소스
Arquivos de Neuro-Psiquiatria, Vol 75, Iss 1, Pp 72-73
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7 .
Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy – a Genotype/Phenotype Correlation
저자
by
Clara Gontijo Camelo
;
Mariana Cunha Artilheiro
;
Cristiane Araújo Martins Moreno
;
Sueli Fazio Ferraciolli
;
André Macedo Serafim Silva
, et al.
소스
Journal of Neuromuscular Diseases
. :1-10
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7 .
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings
저자
by
Anderson Rodrigues Brandão de Paiva
;
André Luiz Santos Pessoa
;
Paulo Ribeiro Nóbrega
;
Cristiane Araujo Martins Moreno
;
David S Lynch
, et al.
소스
Journal of Neurology, Neurosurgery & Psychiatry
. 94:405-408
Full Text (BMJ Journals)
Web of Science
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7 .
GGPS1
‐associated muscular dystrophy with and without hearing loss
저자
by
Rauan Kaiyrzhanov
;
Luke Perry
;
Clarissa Rocca
;
Maha S. Zaki
;
Heba Hosny
, et al.
소스
Annals of Clinical and Translational Neurology
. 9:1465-1474
Open Access (Wiley)
Open Access (OpenAIRE)
Web of Science
Scopus
JCR 저널정보
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Export
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7 .
The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates
저자
by
André Macedo Serafim Silva
;
Patricia Rodrigo
;
Cristiane Araújo Martins Moreno
;
Rodrigo de Holanda Mendonça
;
Eduardo de Paula Estephan
, et al.
소스
Journal of neuropathology and experimental neurology
. 81(9)
Full Text (OUP)
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