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Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
D'Apice, Maria Rosaria; Novelli, Antonio; di Masi, Alessandra; Biancolella, Michela; Antoccia, Antonio; Gullotta, Francesca; Licata, Norma; Minella, Daniela; Testa, Barbara; Nardone, Anna Maria; Palmieri, Giampiero; Calabrese, Emma; Biancone, Livia; Tanzarella, Caterina; Frontali, Marina; Sangiuolo, Federica; Novelli, Giuseppe; Pallone, Francesco.
Afiliación
  • D'Apice MR; Fondazione Policlinico Tor Vergata, Rome, Italy. d.apice@med.uniroma2.it.
  • Novelli A; Mendel Institute, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. a.novelli@css-mendel.it.
  • di Masi A; Department of Biology, "Roma Tre" University, Rome, Italy. dimasi@uniroma3.it.
  • Biancolella M; Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy. michela.biancolella@uniroma2.it.
  • Antoccia A; Department of Biology, "Roma Tre" University, Rome, Italy. antoccia@uniroma3.it.
  • Gullotta F; Department of Biology, "Roma Tre" University, Rome, Italy. francescagullotta@hotmail.com.
  • Licata N; Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy. francescagullotta@hotmail.com.
  • Minella D; Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy. normalicata@hotmail.com.
  • Testa B; Department of Neuroscience, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy. normalicata@hotmail.com.
  • Nardone AM; Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy. danymin@gmail.com.
  • Palmieri G; Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy. testabarbara@libero.it.
  • Calabrese E; Fondazione Policlinico Tor Vergata, Rome, Italy. annamaria.nardone@ptvonline.it.
  • Biancone L; Pathological Anatomy Unit, University Tor Vergata, Rome, Italy. giampiero.palmieri@uniroma2.it.
  • Tanzarella C; Department of Internal Medicine, Gastrointestinal Unit, Tor Vergata University of Rome, Rome, Italy. clbmme00@uniroma2.it.
  • Frontali M; Department of Internal Medicine, Gastrointestinal Unit, Tor Vergata University of Rome, Rome, Italy. biancone@med.uniroma2.it.
  • Sangiuolo F; Department of Biology, "Roma Tre" University, Rome, Italy. tanzarel@uniroma3.it.
  • Novelli G; Institute of Translational Pharmacology, CNR, Rome, Italy. marina.frontali@ift.cnr.it.
  • Pallone F; Fondazione Policlinico Tor Vergata, Rome, Italy. sangiuolo@med.uniroma2.it.
BMC Med Genet ; 16: 20, 2015 Apr 02.
Article en En | MEDLINE | ID: mdl-25927938
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Familia de Multigenes / Eliminación de Secuencia / Sitios Genéticos / Síndromes de Malabsorción Límite: Adolescent / Adult / Child, preschool / Humans / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Familia de Multigenes / Eliminación de Secuencia / Sitios Genéticos / Síndromes de Malabsorción Límite: Adolescent / Adult / Child, preschool / Humans / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Italia