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Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.
Marzano, Flaviana; Chiara, Matteo; Consiglio, Arianna; D'Amato, Gabriele; Gentile, Mattia; Mirabelli, Valentina; Piane, Maria; Savio, Camilla; Fabiani, Marco; D'Elia, Domenica; Sbisà, Elisabetta; Scarano, Gioacchino; Lonardo, Fortunato; Tullo, Apollonia; Pesole, Graziano; Faienza, Maria Felicia.
Afiliação
  • Marzano F; Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, IBIOM-CNR, 70126 Bari, Italy.
  • Chiara M; Department of Biosciences, University of Milan, 20133 Milan, Italy.
  • Consiglio A; Institute for Biomedical Technologies, ITB-CNR, 70126 Bari, Italy.
  • D'Amato G; Neonatal Intensive Care Unit, Di Venere Hospital, 70012 Bari, Italy.
  • Gentile M; Medical Genetics Unit, ASL Bari, 70012 Bari, Italy.
  • Mirabelli V; Institute for Biomedical Technologies, ITB-CNR, 70126 Bari, Italy.
  • Piane M; Department of Clinical and Molecular Medicine, Sapienza University, 00185 Rome, Italy.
  • Savio C; Sant'Andrea University Hospital, 00185 Rome, Italy.
  • Fabiani M; Department of Experimental Medicine, Sapienza University of Rome, 00185 Rome, Italy.
  • D'Elia D; Institute for Biomedical Technologies, ITB-CNR, 70126 Bari, Italy.
  • Sbisà E; Institute for Biomedical Technologies, ITB-CNR, 70126 Bari, Italy.
  • Scarano G; Medical Genetics Unit, AORN "San Pio", Hosp. "G. Rummo", 82100 Benevento, Italy.
  • Lonardo F; Medical Genetics Unit, AORN "San Pio", Hosp. "G. Rummo", 82100 Benevento, Italy.
  • Tullo A; Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, IBIOM-CNR, 70126 Bari, Italy.
  • Pesole G; Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, IBIOM-CNR, 70126 Bari, Italy.
  • Faienza MF; Department of Biosciences, Biotechnology and Biofarmaceutics, University of Bari "Aldo Moro", 70126 Bari, Italy.
Int J Mol Sci ; 24(15)2023 Jul 31.
Article em En | MEDLINE | ID: mdl-37569667
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Nanismo / Microcefalia Tipo de estudo: Prognostic_studies Limite: Female / Humans / Pregnancy Idioma: En Ano de publicação: 2023 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: Osteocondrodisplasias / Nanismo / Microcefalia Tipo de estudo: Prognostic_studies Limite: Female / Humans / Pregnancy Idioma: En Ano de publicação: 2023 Tipo de documento: Article