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Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.
Kashevarova, Anna A; Nazarenko, Lyudmila P; Schultz-Pedersen, Soren; Skryabin, Nikolay A; Salyukova, Olga A; Chechetkina, Nataliya N; Tolmacheva, Ekaterina N; Rudko, Aleksey A; Magini, Pamela; Graziano, Claudio; Romeo, Giovanni; Joss, Shelagh; Tümer, Zeynep; Lebedev, Igor N.
Afiliação
  • Kashevarova AA; Laboratory of Cytogenetics, Institute of Medical Genetics, 10 Nab. Ushaiki, 634050 Tomsk, Russia.
  • Nazarenko LP; Laboratory of Hereditary Pathology, Institute of Medical Genetics, Tomsk, Russia ; Department of Medical Genetics, Siberian State Medical University, Tomsk, Russia.
  • Schultz-Pedersen S; Private Pediatric Clinics "Bornelaegen Aarhus", Aarhus, Denmark.
  • Skryabin NA; Laboratory of Cytogenetics, Institute of Medical Genetics, 10 Nab. Ushaiki, 634050 Tomsk, Russia ; Laboratory of Human Ontogenetics, Tomsk State University, Tomsk, Russia.
  • Salyukova OA; Laboratory of Hereditary Pathology, Institute of Medical Genetics, Tomsk, Russia ; Department of Medical Genetics, Siberian State Medical University, Tomsk, Russia.
  • Chechetkina NN; Laboratory of Hereditary Pathology, Institute of Medical Genetics, Tomsk, Russia.
  • Tolmacheva EN; Laboratory of Cytogenetics, Institute of Medical Genetics, 10 Nab. Ushaiki, 634050 Tomsk, Russia.
  • Rudko AA; Genetic Clinic, Institute of Medical Genetics, Tomsk, Russia.
  • Magini P; Unit of Medical Genetics, Department of Gynecology, Obstetrics and Pediatrics, University of Bologna, Bologna, Italy.
  • Graziano C; Unit of Medical Genetics, Department of Gynecology, Obstetrics and Pediatrics, University of Bologna, Bologna, Italy.
  • Romeo G; Unit of Medical Genetics, Department of Gynecology, Obstetrics and Pediatrics, University of Bologna, Bologna, Italy.
  • Joss S; Department of Clinical Genetics, Level 2, Laboratory Medicine Building, Southern General Hospital, Glasgow, G51 4TF Scotland UK.
  • Tümer Z; Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen Denmark.
  • Lebedev IN; Laboratory of Cytogenetics, Institute of Medical Genetics, 10 Nab. Ushaiki, 634050 Tomsk, Russia ; Department of Medical Genetics, Siberian State Medical University, Tomsk, Russia.
Mol Cytogenet ; 7(1): 97, 2014.
Article em En | MEDLINE | ID: mdl-25606055
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2014 Tipo de documento: Article