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Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella, Aida M; Kandaswamy, Krishna K; Khan, Suliman; Ordonez-Herrera, Natalia; Tripolszki, Kornelia; Beetz, Christian; Rocha, Maria Eugenia; Urzi, Alize; Hotakainen, Ronja; Leubauer, Anika; Al-Ali, Ruslan; Karageorgou, Vasiliki; Moldovan, Oana; Dias, Patrícia; Alhashem, Amal; Tabarki, Brahim; Albalwi, Mohammed A; Alswaid, Abdulrahman Faiz; Al-Hassnan, Zuhair N; Alghamdi, Malak Ali; Hadipour, Zahra; Hadipour, Fatemeh; Al Hashmi, Nadia; Al-Gazali, Lihadh; Cheema, Huma; Zaki, Maha S; Hüning, Irina; Alfares, Ahmed; Eyaid, Wafaa; Al Mutairi, Fuad; Alfadhel, Majid; Alkuraya, Fowzan S; Al-Sannaa, Nouriya Abbas; AlShamsi, Aisha M; Ameziane, Najim; Rolfs, Arndt; Bauer, Peter.
Afiliação
  • Bertoli-Avella AM; CENTOGENE GmbH, Rostock, Germany. aida.bertoli-avella@centogene.com.
  • Kandaswamy KK; CENTOGENE GmbH, Rostock, Germany.
  • Khan S; CENTOGENE GmbH, Rostock, Germany.
  • Ordonez-Herrera N; CENTOGENE GmbH, Rostock, Germany.
  • Tripolszki K; CENTOGENE GmbH, Rostock, Germany.
  • Beetz C; CENTOGENE GmbH, Rostock, Germany.
  • Rocha ME; CENTOGENE GmbH, Rostock, Germany.
  • Urzi A; CENTOGENE GmbH, Rostock, Germany.
  • Hotakainen R; CENTOGENE GmbH, Rostock, Germany.
  • Leubauer A; CENTOGENE GmbH, Rostock, Germany.
  • Al-Ali R; CENTOGENE GmbH, Rostock, Germany.
  • Karageorgou V; CENTOGENE GmbH, Rostock, Germany.
  • Moldovan O; Serviço de Genética Médica. Hospital de Santa Maria. Centro Hospitalar Universitário de Lisboa Norte, Lisboa, Portugal.
  • Dias P; Serviço de Genética Médica. Hospital de Santa Maria. Centro Hospitalar Universitário de Lisboa Norte, Lisboa, Portugal.
  • Alhashem A; Division of Pediatric Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Tabarki B; Division of Pediatric Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Albalwi MA; Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Alswaid AF; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.
  • Al-Hassnan ZN; College of Medicine, King Saud bin Abdulaziz University for Health Sciences. King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Alghamdi MA; College of Medicine, King Saud bin Abdulaziz University for Health Sciences. King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Hadipour Z; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.
  • Hadipour F; Department of Medical Genetics, King Faisal Specialist Hospital & Research Center, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Al Hashmi N; Medical Genetic Division, Pediatric Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Al-Gazali L; Medical Genetics Department, Atieh Research Center & Hospital, Tehran, Iran.
  • Cheema H; Medical Genetics Department, Atieh Research Center & Hospital, Tehran, Iran.
  • Zaki MS; National Genetic Center, Royal Hospital Muscat. Sultanate of Oman, Muscat, Oman.
  • Hüning I; Department of Pediatrics, Tawan Hospital, Al-Ain, United Arab Emirates.
  • Alfares A; Pediatric Department of Gastroenterology, Children's Hospital of Lahore Hospital, Lahore, Pakistan.
  • Eyaid W; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Al Mutairi F; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.
  • Alfadhel M; Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Alkuraya FS; Department of Pediatrics, College of Medicine, Qassim University, Riyadh, Saudi Arabia.
  • Al-Sannaa NA; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.
  • AlShamsi AM; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.
  • Ameziane N; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, 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.
Genet Med ; 23(8): 1551-1568, 2021 08.
Article em En | MEDLINE | ID: mdl-33875846
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Exoma / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Exoma / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha