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Whole Exome Sequencing in a Rare Disease: A Patient with Anomalous Left Coronary Artery from the Pulmonary Artery (Bland-White-Garland Syndrome).
Hekim, Nezih; Batyraliev, Talantbek; Trujillano, Daniel; Wang, Wei; Dandara, Collet; Karben, Zarema; Saygili, Eyüp Ilker; Çetin, Zafer; Mihcioglu, Deniz; Türkmen, Serdar; Ikidag, Mehmet Ali; Cüce, Mehmet Ali; Rolfs, Arndt.
Afiliação
  • Hekim N; 1 Department of Medical Biochemistry, School of Medicine, Istanbul Kemerburgaz University , Istanbul, Turkey .
  • Batyraliev T; 2 Kyrgyzstan Ministry of Health , Bishkek, Kyrgyzstan .
  • Trujillano D; 3 Centogene AG , Rostock, Germany .
  • Wang W; 4 Global Health Genomics, School of Medical Sciences and Health, Edith Cowan University , Perth, Australia .
  • Dandara C; 5 Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, Institute of Infectious Disease and Molecular Medicine, University of Cape Town , Cape Town, South Africa .
  • Karben Z; 6 Department of Cardiology, School of Medicine, SANKO University , Gaziantep, Turkey .
  • Saygili EI; 7 Department of Medical Biochemistry, School of Medicine, SANKO University , Gaziantep, Turkey .
  • Çetin Z; 8 Department of Medical Biology and Genetics, School of Medicine, SANKO University , Gaziantep, Turkey .
  • Mihcioglu D; 8 Department of Medical Biology and Genetics, School of Medicine, SANKO University , Gaziantep, Turkey .
  • Türkmen S; 6 Department of Cardiology, School of Medicine, SANKO University , Gaziantep, Turkey .
  • Ikidag MA; 9 Department of Radiology, School of Medicine, SANKO University , Gaziantep, Turkey .
  • Cüce MA; 9 Department of Radiology, School of Medicine, SANKO University , Gaziantep, Turkey .
  • Rolfs A; 3 Centogene AG , Rostock, Germany .
OMICS ; 20(5): 325-7, 2016 05.
Article em En | MEDLINE | ID: mdl-27195969

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Proto-Oncogênicas / Regulador de Condutância Transmembrana em Fibrose Cística / Doenças Raras / Placofilinas / Síndrome de Bland-White-Garland / Sequenciamento do Exoma Tipo de estudo: Diagnostic_studies Limite: Adult / Humans / Male País/Região como assunto: Asia Idioma: En Revista: OMICS Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Turquia

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Proto-Oncogênicas / Regulador de Condutância Transmembrana em Fibrose Cística / Doenças Raras / Placofilinas / Síndrome de Bland-White-Garland / Sequenciamento do Exoma Tipo de estudo: Diagnostic_studies Limite: Adult / Humans / Male País/Região como assunto: Asia Idioma: En Revista: OMICS Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Turquia