Your browser doesn't support javascript.
loading
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Bertoli-Avella, Aida M; Beetz, Christian; Ameziane, Najim; Rocha, Maria Eugenia; Guatibonza, Pilar; Pereira, Catarina; Calvo, Maria; Herrera-Ordonez, Natalia; Segura-Castel, Monica; Diego-Alvarez, Dan; Zawada, Michal; Kandaswamy, Krishna K; Werber, Martin; Paknia, Omid; Zielske, Susan; Ugrinovski, Dimitar; Warnack, Gitte; Kampe, Kapil; Iurașcu, Marius-Ionuț; Cozma, Claudia; Vogel, Florian; Alhashem, Amal; Hertecant, Jozef; Al-Shamsi, Aisha M; Alswaid, Abdulrahman Faiz; Eyaid, Wafaa; Al Mutairi, Fuad; Alfares, Ahmed; Albalwi, Mohammed A; Alfadhel, Majid; Al-Sannaa, Nouriya Abbas; Reardon, Willie; Alanay, Yasemin; Rolfs, Arndt; Bauer, Peter.
Afiliação
  • Bertoli-Avella AM; CENTOGENE AG, Rostock, Germany.
  • Beetz C; CENTOGENE AG, Rostock, Germany.
  • Ameziane N; CENTOGENE AG, Rostock, Germany.
  • Rocha ME; CENTOGENE AG, Rostock, Germany.
  • Guatibonza P; CENTOGENE AG, Rostock, Germany.
  • Pereira C; CENTOGENE AG, Rostock, Germany.
  • Calvo M; CENTOGENE AG, Rostock, Germany.
  • Herrera-Ordonez N; CENTOGENE AG, Rostock, Germany.
  • Segura-Castel M; CENTOGENE AG, Rostock, Germany.
  • Diego-Alvarez D; CENTOGENE AG, Rostock, Germany.
  • Zawada M; CENTOGENE AG, Rostock, Germany.
  • Kandaswamy KK; CENTOGENE AG, Rostock, Germany.
  • Werber M; CENTOGENE AG, Rostock, Germany.
  • Paknia O; CENTOGENE AG, Rostock, Germany.
  • Zielske S; CENTOGENE AG, Rostock, Germany.
  • Ugrinovski D; CENTOGENE AG, Rostock, Germany.
  • Warnack G; CENTOGENE AG, Rostock, Germany.
  • Kampe K; CENTOGENE AG, Rostock, Germany.
  • Iurașcu MI; CENTOGENE AG, Rostock, Germany.
  • Cozma C; CENTOGENE AG, Rostock, Germany.
  • Vogel F; CENTOGENE AG, Rostock, Germany.
  • Alhashem A; Division of Pediatric Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Hertecant J; Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.
  • Al-Shamsi AM; Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.
  • Alswaid AF; Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Eyaid W; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.
  • Al Mutairi F; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.
  • Alfares A; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.
  • Albalwi MA; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.
  • Alfadhel M; Department of Pediatrics, College of Medicine, Qassim University, Qassim, Saudi Arabia.
  • Al-Sannaa NA; Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Reardon W; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.
  • Alanay Y; Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Rolfs A; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.
  • Bauer P; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.
Eur J Hum Genet ; 29(1): 141-153, 2021 01.
Article em En | MEDLINE | ID: mdl-32860008
Assuntos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Sequenciamento do Exoma / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Sequenciamento do Exoma / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido