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Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA.
Tsipi, Maria; Poulou, Myrto; Fylaktou, Irene; Kosma, Konstantina; Tsoutsou, Eirini; Pons, Maria-Roser; Kokkinou, Eleftheria; Kitsiou-Tzeli, Sofia; Fryssira, Helen; Tzetis, Maria.
Affiliation
  • Tsipi M; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Greece. Electronic address: mtsipi@med.uoa.gr.
  • Poulou M; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Greece.
  • Fylaktou I; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Greece.
  • Kosma K; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Greece.
  • Tsoutsou E; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Greece.
  • Pons MR; 1(st) Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, "Aghia Sophia" Childrens Hospital, Athens, Greece.
  • Kokkinou E; 1(st) Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, "Aghia Sophia" Childrens Hospital, Athens, Greece.
  • Kitsiou-Tzeli S; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Greece; Research Institute for the Study of Genetic and Malignant Diseases in Childhood, "Aghia Sophia" Childrens Hospital, Athens, Greece.
  • Fryssira H; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Greece.
  • Tzetis M; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Greece.
J Neurol Sci ; 395: 95-105, 2018 12 15.
Article in En | MEDLINE | ID: mdl-30308447
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurofibromatosis 1 / Neurofibromin 1 / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: J Neurol Sci Year: 2018 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurofibromatosis 1 / Neurofibromin 1 / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: J Neurol Sci Year: 2018 Document type: Article