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Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency.
Ritelli, Marco; Palagano, Eleonora; Cinquina, Valeria; Beccagutti, Federica; Chiarelli, Nicola; Strina, Dario; Hall, Ignacio Fernando; Villa, Anna; Sobacchi, Cristina; Colombi, Marina.
Afiliação
  • Ritelli M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
  • Palagano E; Consiglio Nazionale delle Ricerche-Istituto di Ricerca Genetica e Biomedica (CNR-IRGB), Milan Unit, 20138 Milan, Italy; Humanitas Clinical and Research Center-Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20089 Rozzano, Italy.
  • Cinquina V; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
  • Beccagutti F; Fondazione Poliambulanza, Department of Neonatal Intensive Care, 25124 Brescia, Italy.
  • Chiarelli N; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
  • Strina D; Consiglio Nazionale delle Ricerche-Istituto di Ricerca Genetica e Biomedica (CNR-IRGB), Milan Unit, 20138 Milan, Italy; Humanitas Clinical and Research Center-Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20089 Rozzano, Italy.
  • Hall IF; Humanitas University, 20089 Rozzano, Italy.
  • Villa A; Consiglio Nazionale delle Ricerche-Istituto di Ricerca Genetica e Biomedica (CNR-IRGB), Milan Unit, 20138 Milan, Italy; San Raffaele Telethon Institute for Gene Therapy SR-Tiget, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
  • Sobacchi C; Consiglio Nazionale delle Ricerche-Istituto di Ricerca Genetica e Biomedica (CNR-IRGB), Milan Unit, 20138 Milan, Italy; Humanitas Clinical and Research Center-Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20089 Rozzano, Italy. Electronic address: cristina.sobacchi@humanitasresearch.it
  • Colombi M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy. Electronic address: marina.colombi@unibs.it.
Bone ; 140: 115571, 2020 11.
Article em En | MEDLINE | ID: mdl-32768688
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Neoplasias / Neuroblastoma Tipo de estudo: Prognostic_studies / Screening_studies Limite: Female / Humans / Infant / Newborn / Pregnancy Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Neoplasias / Neuroblastoma Tipo de estudo: Prognostic_studies / Screening_studies Limite: Female / Humans / Infant / Newborn / Pregnancy Idioma: En Ano de publicação: 2020 Tipo de documento: Article