Your browser doesn't support javascript.
loading
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory.
Martorana, Davide; Barili, Valeria; Uliana, Vera; Ambrosini, Enrico; Riva, Matteo; De Sensi, Erika; Luppi, Elena; Messina, Corinne; Caleffi, Edoardo; Pisani, Francesco; Percesepe, Antonio.
Afiliação
  • Martorana D; Medical Genetics, University Hospital of Parma, 43126, Parma, Italy; CoreLAB Research Center, University Hospital of Parma, 43126, Italy.
  • Barili V; Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy.
  • Uliana V; Medical Genetics, University Hospital of Parma, 43126, Parma, Italy.
  • Ambrosini E; Medical Genetics, University Hospital of Parma, 43126, Parma, Italy.
  • Riva M; Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy.
  • De Sensi E; Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy.
  • Luppi E; Medical Genetics, University of Bologna, Italy.
  • Messina C; Medical Genetics, University Hospital of Parma, 43126, Parma, Italy.
  • Caleffi E; Plastic Surgery, University Hospital of Parma, 43126, Parma, Italy.
  • Pisani F; Children's Neuropsychological Services, Department of Medicine and Surgery, University of Parma, Parma, Italy.
  • Percesepe A; Medical Genetics, University Hospital of Parma, 43126, Parma, Italy; Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy. Electronic address: antonio.percesepe@unipr.it.
Eur J Med Genet ; 66(11): 104847, 2023 Nov.
Article em En | MEDLINE | ID: mdl-37751797
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 2_ODS3 Base de dados: MEDLINE Assunto principal: Neurofibromatose 1 / Predisposição Genética para Doença Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Adult / Humans Idioma: En Revista: Eur J Med Genet Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 2_ODS3 Base de dados: MEDLINE Assunto principal: Neurofibromatose 1 / Predisposição Genética para Doença Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Adult / Humans Idioma: En Revista: Eur J Med Genet Ano de publicação: 2023 Tipo de documento: Article