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Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.
Schoch, Kelly; McConkie-Rosell, Allyn; Walley, Nicole; Bhambhani, Vikas; Feyma, Timothy; Pizoli, Carolyn E; Smith, Edward C; Tan, Queenie K-G; Shashi, Vandana.
Afiliação
  • Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.
  • McConkie-Rosell A; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.
  • Walley N; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.
  • Bhambhani V; Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis, MN, USA.
  • Feyma T; Gillette Children's Specialty Healthcare, Saint Paul, MN, USA.
  • Pizoli CE; Division of Neurology, Department of Pediatrics, Duke University School of Medicine, Durham, NC, 27710, USA.
  • Smith EC; Division of Neurology, Department of Pediatrics, Duke University School of Medicine, Durham, NC, 27710, USA.
  • Tan QK; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.
  • Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA. vandana.shashi@duke.edu.
Orphanet J Rare Dis ; 18(1): 269, 2023 09 04.
Article em En | MEDLINE | ID: mdl-37667351
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Encéfalo Tipo de estudo: Risk_factors_studies Limite: Child / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Encéfalo Tipo de estudo: Risk_factors_studies Limite: Child / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article