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Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema, Huma; Bertoli-Avella, Aida M; Skrahina, Volha; Anjum, Muhammad Nadeem; Waheed, Nadia; Saeed, Anjum; Beetz, Christian; Perez-Lopez, Jordi; Rocha, Maria Eugenia; Alawbathani, Salem; Pereira, Catarina; Hovakimyan, Marina; Patric, Irene Rosita Pia; Paknia, Omid; Ameziane, Najim; Cozma, Claudia; Bauer, Peter; Rolfs, Arndt.
Afiliação
  • Cheema H; Pediatric Department of Gastroenterology, Children's Hospital of Lahore Hospital, Lahore, Pakistan.
  • Bertoli-Avella AM; CENTOGENE AG, Rostock, Germany.
  • Skrahina V; CENTOGENE AG, Rostock, Germany.
  • Anjum MN; Pediatric Department of Gastroenterology, Children's Hospital of Lahore Hospital, Lahore, Pakistan.
  • Waheed N; Pediatric Department of Gastroenterology, Children's Hospital of Lahore Hospital, Lahore, Pakistan.
  • Saeed A; Pediatric Department of Gastroenterology, Children's Hospital of Lahore Hospital, Lahore, Pakistan.
  • Beetz C; CENTOGENE AG, Rostock, Germany.
  • Perez-Lopez J; CENTOGENE AG, Rostock, Germany.
  • Rocha ME; CENTOGENE AG, Rostock, Germany.
  • Alawbathani S; CENTOGENE AG, Rostock, Germany.
  • Pereira C; CENTOGENE AG, Rostock, Germany.
  • Hovakimyan M; CENTOGENE AG, Rostock, Germany.
  • Patric IRP; CENTOGENE AG, Rostock, Germany.
  • Paknia O; CENTOGENE AG, Rostock, Germany.
  • Ameziane N; CENTOGENE AG, Rostock, Germany.
  • Cozma C; CENTOGENE AG, Rostock, Germany.
  • Bauer P; CENTOGENE AG, Rostock, Germany.
  • Rolfs A; CENTOGENE AG, Rostock, Germany.
NPJ Genom Med ; 5: 44, 2020.
Article em En | MEDLINE | ID: mdl-33083013
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article