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RIN2 syndrome: Expanding the clinical phenotype.
Rosato, Simonetta; Syx, Delfien; Ivanovski, Ivan; Pollazzon, Marzia; Santodirocco, Daniela; De Marco, Loredana; Beltrami, Marina; Callewaert, Bert; Garavelli, Livia; Malfait, Fransiska.
Affiliation
  • Rosato S; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
  • Syx D; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Ivanovski I; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
  • Pollazzon M; Department of Surgical, Medical, Dental and Morphological Sciences with Interest in Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.
  • Santodirocco D; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
  • De Marco L; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
  • Beltrami M; Anatomic Pathology Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
  • Callewaert B; Department of Internal Medicine, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
  • Garavelli L; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Malfait F; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
Am J Med Genet A ; 170(9): 2408-15, 2016 09.
Article de En | MEDLINE | ID: mdl-27277385
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Phénotype / Malformations multiples / Protéines de transport / Facteurs d'échange de nucléotides guanyliques / Études d'associations génétiques / Mutation Type d'étude: Diagnostic_studies / Prognostic_studies Limites: Adolescent / Adult / Female / Humans / Male / Middle aged Langue: En Journal: Am J Med Genet A Sujet du journal: GENETICA MEDICA Année: 2016 Type de document: Article Pays d'affiliation: Italie Pays de publication: États-Unis d'Amérique
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Phénotype / Malformations multiples / Protéines de transport / Facteurs d'échange de nucléotides guanyliques / Études d'associations génétiques / Mutation Type d'étude: Diagnostic_studies / Prognostic_studies Limites: Adolescent / Adult / Female / Humans / Male / Middle aged Langue: En Journal: Am J Med Genet A Sujet du journal: GENETICA MEDICA Année: 2016 Type de document: Article Pays d'affiliation: Italie Pays de publication: États-Unis d'Amérique