Contribution of Mendelian Disorders in a Population-Based Pediatric Neurodegeneration Cohort.

Guo, Rose; Mentch, Frank D; Li, Dong; Will, Erin E; Ahrens-Nicklas, Rebecca C; Bhoj, Elizabeth J

Guo, Rose; Mentch, Frank D; Li, Dong; Will, Erin E; Ahrens-Nicklas, Rebecca C; Bhoj, Elizabeth J.

Afiliação

Guo R; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA.
Mentch FD; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.
Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.
Will EE; Division of Genomic Diagnostics and Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, PA.
Ahrens-Nicklas RC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA.
Bhoj EJ; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA; Division of Genomic Diagnostics and Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, PA. Electronic addres

J Pediatr ; 248: 89-93, 2022 09.

Article em En | MEDLINE | ID: mdl-35577121

Assuntos

Lipofuscinoses Ceroides Neuronais; Algoritmos; Criança; Estudos de Coortes; Hospitais Pediátricos; Humanos; Fenótipo

Palavras-chave

Rett syndrome; biobanking; medical genetics; mitochondrial disease; neuroscience; pediatric neurology; regression

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Lipofuscinoses Ceroides Neuronais Tipo de estudo: Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Humans Idioma: En Revista: J Pediatr Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Panamá

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