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Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar.
Fakhro, Khalid A; Robay, Amal; Rodrigues-Flores, Juan L; Mezey, Jason G; Al-Shakaki, Alya A; Chidiac, Omar; Stadler, Dora; Malek, Joel A; Imam, Abu Bakr; Sheikh, Arwa; Azzam, Asmaa; Janahi, Ibrahim; Khanjar, Izzat; Osman, Kamal; Ziki, Maen Abu; Mahmah, Mohamed Adnan; Selim, Mohamed; Numeiri, Nuha; Ali, Rehab; Lakhani, Shenela; Butt, Fizza; Omran, Tawfeg Ben; Crystal, Ronald G.
Afiliação
  • Fakhro KA; Department of Human Genetics Sidra Medicine.
  • Robay A; Department of Genetic Medicine Weill Cornell Medical College - Qatar Doha, Qatar.
  • Rodrigues-Flores JL; Department of Genetic Medicine Weill Cornell Medical College - Qatar Doha, Qatar.
  • Mezey JG; Department of Genetic Medicine Weill Cornell Medical College New York, NY.
  • Al-Shakaki AA; Department of Genetic Medicine Weill Cornell Medical College New York, NY.
  • Chidiac O; Department Biological Statistics and Computational Biology Cornell University Ithaca, NY.
  • Stadler D; Department of Genetic Medicine Weill Cornell Medical College - Qatar Doha, Qatar.
  • Malek JA; Department of Genetic Medicine Weill Cornell Medical College - Qatar Doha, Qatar.
  • Imam AB; Department of Medicine Weill Cornell Medical College in Qatar Doha, Qatar.
  • Sheikh A; Department of Genetic Medicine Weill Cornell Medical College - Qatar Doha, Qatar.
  • Azzam A; Hamad Medical Corporation Doha, Qatar.
  • Janahi I; Rochester Regional Health, Unity Hospital Rochester, NY.
  • Khanjar I; Hamad Medical Corporation Doha, Qatar.
  • Osman K; Hamad Medical Corporation Doha, Qatar.
  • Ziki MA; Hamad Medical Corporation Doha, Qatar.
  • Mahmah MA; Hamad Medical Corporation Doha, Qatar.
  • Selim M; Yale New Haven Medical Center, Yale University, New Haven, CT.
  • Numeiri N; Hamad Medical Corporation Doha, Qatar.
  • Ali R; Hamad Medical Corporation Doha, Qatar.
  • Lakhani S; Hamad Medical Corporation Doha, Qatar.
  • Butt F; Hamad Medical Corporation Doha, Qatar.
  • Omran TB; Cener for Neurogenetics, Weill Cornell Medicine New York, NY.
  • Crystal RG; Al Shefa Polyclinic, Doha, Qatar.
Hum Mol Genet ; 28(23): 3970-3981, 2019 12 01.
Article em En | MEDLINE | ID: mdl-31625567

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Heterogeneidade Genética / Predisposição Genética para Doença / Sequenciamento do Exoma Tipo de estudo: Clinical_trials Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Heterogeneidade Genética / Predisposição Genética para Doença / Sequenciamento do Exoma Tipo de estudo: Clinical_trials Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article