Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients.

Refeat, Miral M; Naggar, Walaa El; Saied, Mostafa M El; Kilany, Ayman

Refeat, Miral M; Naggar, Walaa El; Saied, Mostafa M El; Kilany, Ayman.

Afiliação

Refeat MM; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. mira_refeat@yahoo.com.
Naggar WE; Faculty of Medicine, Department of Pediatrics, Cairo University, Giza, Egypt.
Saied MME; Department of Research On Children With Special Needs, Medical Research Institute, National Research Centre, Cairo, Egypt.
Kilany A; Department of Research On Children With Special Needs, Medical Research Institute, National Research Centre, Cairo, Egypt.

Neurogenetics ; 24(1): 17-28, 2023 01.

Article em En | MEDLINE | ID: mdl-36435927

Assuntos

Exoma; Convulsões; Masculino; Humanos; Mutação; Egito; Convulsões/genética; Fenótipo

Palavras-chave

Developmental regression; Leukodystrophy; Neurodegenerative diseases; Neuronal ceroid lipofuscinosis diseases; Whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Convulsões / Exoma Tipo de estudo: Diagnostic_studies / Risk_factors_studies / Screening_studies Limite: Humans / Male País/Região como assunto: Africa Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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