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A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.
De Falco, Alessandro; De Brasi, Daniele; Della Monica, Matteo; Cesario, Claudia; Petrocchi, Stefano; Novelli, Antonio; D'Alterio, Giuseppe; Iolascon, Achille; Capasso, Mario; Piscopo, Carmelo.
Afiliação
  • De Falco A; U.O.C. Genetica Medica, A.O.U. Federico II, 80131 Naples, Italy.
  • De Brasi D; Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.
  • Della Monica M; U.O.C. Pediatria, AORN Santobono Pausilipon, 80129 Naples, Italy.
  • Cesario C; Medical and Laboratory Genetic Unit, Antonio Cardarelli Hospital, 80131 Naples, Italy.
  • Petrocchi S; Laboratory of Medical Genetics, Bambino Gesù Children Hospital IRCCS, 00165 Rome, Italy.
  • Novelli A; Laboratory of Medical Genetics, Bambino Gesù Children Hospital IRCCS, 00165 Rome, Italy.
  • D'Alterio G; Laboratory of Medical Genetics, Bambino Gesù Children Hospital IRCCS, 00165 Rome, Italy.
  • Iolascon A; European School of Molecular Medicine, Università Degli Studi di Milano, 20139 Milan, Italy.
  • Capasso M; CEINGE Biotecnologie Avanzate, 80145 Naples, Italy.
  • Piscopo C; U.O.C. Genetica Medica, A.O.U. Federico II, 80131 Naples, Italy.
Genes (Basel) ; 14(1)2023 01 01.
Article em En | MEDLINE | ID: mdl-36672860
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fissura Palatina / Síndrome de Cornélia de Lange / Hipertricose Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fissura Palatina / Síndrome de Cornélia de Lange / Hipertricose Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article