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A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
Bertoli-Avella, Aida; Hotakainen, Ronja; Al Shehhi, Maryam; Urzi, Alice; Pareira, Catarina; Marais, Anett; Al Shidhani, Khoula; Aloraimi, Sumaya; Morales-Torres, Galina; Fisher, Steffen; Demuth, Laura; Moteleb Selim, Laila Abdel; Al Menabawy, Nihal; Busehail, Maryam; AlShaikh, Mohammed; Gilani, Naser; Chalabi, Dler Nooruldeen; Alharbi, Nasser S; Alfadhel, Majid; Abdelrahman, Mohammed; Venselaar, Hanka; Anjum, Nadeem; Saeed, Anjum; Alghamdi, Malak Ali; Aljaedi, Hamad; Arabi, Hisham; Karageorgou, Vasiliki; Khan, Suliman; Hajjari, Zahra; Radefeldt, Mandy; Al-Ali, Ruslan; Tripolszki, Kornelia; Jamhawi, Amer; Paknia, Omid; Cozma, Claudia; Cheema, Huma; Ameziane, Najim; Al-Muhsen, Saleh; Bauer, Peter.
Afiliação
  • Bertoli-Avella A; Medical Reporting & Genomic Research, Centogene GmbH, Rostock, Germany Aida.Bertoli-Avella@centogene.com.
  • Hotakainen R; Medical Reporting & Genomic Research, Centogene GmbH, Rostock, Germany.
  • Al Shehhi M; Child Health Department, The Royal Hospital, Muscat, Oman.
  • Urzi A; Medical Reporting & Genomic Research, Centogene GmbH, Rostock, Germany.
  • Pareira C; Medical Reporting & Genomic Research, Centogene GmbH, Rostock, Germany.
  • Marais A; Medical Reporting & Genomic Research, Centogene GmbH, Rostock, Germany.
  • Al Shidhani K; Department of Pediatric Pulmonology, The Royal Hospital, Muscat, Oman.
  • Aloraimi S; Child Health Department, The Royal Hospital, Muscat, Oman.
  • Morales-Torres G; Medical Reporting & Genomic Research, Centogene GmbH, Rostock, Germany.
  • Fisher S; Medical Reporting & Genomic Research, Centogene GmbH, Rostock, Germany.
  • Demuth L; Medical Reporting & Genomic Research, Centogene GmbH, Rostock, Germany.
  • Moteleb Selim LA; Pediatric Neurology and Metabolic division, Cairo University Childrens Hospital, Cairo, Egypt.
  • Al Menabawy N; Pediatric Neurology and Metabolic division, Cairo University Childrens Hospital, Cairo, Egypt.
  • Busehail M; Department of Pediatrics, Salmaniya Medical Complex, Manama, Bahrain.
  • AlShaikh M; Department of Pediatrics, Salmaniya Medical Complex, Manama, Bahrain.
  • Gilani N; Farabi Medical Laboratory, Erbil, Iraq.
  • Chalabi DN; Hawler Medical University College of Medicine, Erbil, Kurdistan, Iraq.
  • Alharbi NS; Pulmonology Unit, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Alfadhel M; Medical Genomic Research department, King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
  • Abdelrahman M; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
  • Venselaar H; Immunology Research laboratory, Department of Pediatrics, College of Medicine and King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.
  • Anjum N; Centre for Molecular and Biomolecular Informatics, Radboudumc, Radboud Institute for Molecular Life Sciences, Nijmegen, Gelderland, Netherlands.
  • Saeed A; Department of Pediatric Gastroenterology, Children's Hospital of Lahore, Lahore, Pakistan.
  • Alghamdi MA; Department of Pediatric Gastroenterology, Children's Hospital of Lahore, Lahore, Pakistan.
  • Aljaedi H; Medical Genetics Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Arabi H; Department of Pathology, College of Medicine, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.
  • Karageorgou V; Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
  • Khan S; Medical Reporting & Genomic Research, Centogene GmbH, Rostock, Germany.
  • Hajjari Z; Medical Reporting & Genomic Research, Centogene GmbH, Rostock, Germany.
  • Radefeldt M; Medical Reporting & Genomic Research, Centogene GmbH, Rostock, Germany.
  • Al-Ali R; Medical Reporting & Genomic Research, Centogene GmbH, Rostock, Germany.
  • Tripolszki K; Medical Reporting & Genomic Research, Centogene GmbH, Rostock, Germany.
  • Jamhawi A; Medical Reporting & Genomic Research, Centogene GmbH, Rostock, Germany.
  • Paknia O; Medical Reporting & Genomic Research, Centogene GmbH, Rostock, Germany.
  • Cozma C; Medical Reporting & Genomic Research, Centogene GmbH, Rostock, Germany.
  • Cheema H; Medical Reporting & Genomic Research, Centogene GmbH, Rostock, Germany.
  • Ameziane N; Department of Pediatric Gastroenterology, Children's Hospital of Lahore, Lahore, Pakistan.
  • Al-Muhsen S; Medical Reporting & Genomic Research, Centogene GmbH, Rostock, Germany.
  • Bauer P; Immunology Research laboratory, Department of Pediatrics, College of Medicine and King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.
J Med Genet ; 59(10): 993-1001, 2022 Oct.
Article em En | MEDLINE | ID: mdl-34952832
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Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 3_ND / 4_TD / 6_ODS3_enfermedades_notrasmisibles Base de dados: MEDLINE Assunto principal: Proteínas Oncogênicas / Fibrose Cística / Mucoproteínas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 3_ND / 4_TD / 6_ODS3_enfermedades_notrasmisibles Base de dados: MEDLINE Assunto principal: Proteínas Oncogênicas / Fibrose Cística / Mucoproteínas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2022 Tipo de documento: Article