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Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.
Neupauerová, Jana; Sterbová, Katalin; Vlcková, Markéta; Sebronová, Vera; Maríková, Tat'ána; Krutová, Marcela; David, Stanek; Krsek, Pavel; Zaliová, Markéta; Seeman, Pavel; Lassuthová, Petra.
Affiliation
  • Neupauerová J; 1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol , Prague, Czech Republic .
  • Sterbová K; 2 Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol , Prague, Czech Republic .
  • Vlcková M; 3 Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol , Prague, Czech Republic .
  • Sebronová V; 2 Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol , Prague, Czech Republic .
  • Maríková T; 3 Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol , Prague, Czech Republic .
  • Krutová M; 1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol , Prague, Czech Republic .
  • David S; 1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol , Prague, Czech Republic .
  • Krsek P; 2 Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol , Prague, Czech Republic .
  • Zaliová M; 4 CLIP-Childhood Leukaemia Investigation Prague, Department of Paediatric Haematology and Oncology, Charles University in Prague and University Hospital Motol , Prague, Czech Republic .
  • Seeman P; 1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol , Prague, Czech Republic .
  • Lassuthová P; 1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol , Prague, Czech Republic .
Genet Test Mol Biomarkers ; 21(10): 613-618, 2017 Oct.
Article in En | MEDLINE | ID: mdl-28872899
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile / Rett Syndrome / Protein Serine-Threonine Kinases Type of study: Prognostic_studies / Risk_factors_studies Limits: Child, preschool / Female / Humans / Male Language: En Journal: Genet Test Mol Biomarkers Journal subject: BIOLOGIA MOLECULAR / GENETICA Year: 2017 Document type: Article Affiliation country: República Checa Country of publication: Estados Unidos
Fulltext
Add to My VHL
Print
XML
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile / Rett Syndrome / Protein Serine-Threonine Kinases Type of study: Prognostic_studies / Risk_factors_studies Limits: Child, preschool / Female / Humans / Male Language: En Journal: Genet Test Mol Biomarkers Journal subject: BIOLOGIA MOLECULAR / GENETICA Year: 2017 Document type: Article Affiliation country: República Checa Country of publication: Estados Unidos