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Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.
Samra, Nadra; Jansen, Nicolette S; Morani, Ilham; Kakun, Reli Rachel; Zaid, Rinat; Paperna, Tamar; Garcia-Dominguez, Mario; Viner, Yuri; Frankenthal, Hilel; Shinwell, Eric S; Portnov, Igor; Bakry, Doua; Shalata, Adel; Shapira Rootman, Mika; Kidron, Dvora; Claessens, Laura A; Wevers, Ron A; Mandel, Hanna; Vertegaal, Alfred C O; Weiss, Karin.
Afiliação
  • Samra N; Department of Genetics, Ziv Medical Center, Safed, Israel.
  • Jansen NS; Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel.
  • Morani I; Department of Cell and Chemical Biology, Leiden University Medical Center, Leiden, The Netherlands.
  • Kakun RR; Department of Genetics, Ziv Medical Center, Safed, Israel.
  • Zaid R; The Clinical Research Institute, Rambam Health Care Campus, Haifa, Israel.
  • Paperna T; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
  • Garcia-Dominguez M; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
  • Viner Y; Andalusian Centre for Molecular Biology and Regenerative Medicine-CABIMER, CSIC-Universidad Pablo de Olavide, Sevilla, Spain.
  • Frankenthal H; Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel.
  • Shinwell ES; Pediatric Intensive Care Unit, Ziv Medical Center, Safed, Israel.
  • Portnov I; Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel.
  • Bakry D; Pediatric Intensive Care Unit, Ziv Medical Center, Safed, Israel.
  • Shalata A; Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel.
  • Shapira Rootman M; Department of Neonatology, Ziv Medical Center, Safed, Israel.
  • Kidron D; Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel.
  • Claessens LA; Department of Neonatology, Ziv Medical Center, Safed, Israel.
  • Wevers RA; Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel.
  • Mandel H; Department of Pediatric Hematology, Ziv Medical Center, Safed, Israel.
  • Vertegaal ACO; Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, Haifa, Israel.
  • Weiss K; Department of Radiology, Rambam Health Care Campus, Haifa, Israel.
J Med Genet ; 60(11): 1133-1141, 2023 Nov.
Article em En | MEDLINE | ID: mdl-37460201
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: J Med Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Israel
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: J Med Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Israel