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Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review.
Ali, Rehab; Al-Dewik, Nader; Mohammed, Shayma; Elfituri, Mahmud; Agouba, Sahar; Musa, Sara; Mahmoud, Laila; Almulla, Mariam; El-Akouri, Karen; Mohd, Howaida; Bux, Reem; Almulla, Hajer; Othman, Amna; Al-Mesaifri, Fatma; Shahbeck, Noora; Al-Muriekhi, Mariam; Khalifa, Amal; Al-Sulaiman, Reem; Ben-Omran, Tawfeg.
Afiliação
  • Ali R; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha, Qatar.
  • Al-Dewik N; Division of Genetic and Genomic Medicine, Sidra Medicine, Doha, Qatar.
  • Mohammed S; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha, Qatar.
  • Elfituri M; Interim Translational Research Institute, Hamad Medical Corporation, Doha, Qatar.
  • Agouba S; Genomics and Precision Medicine (GPM) , College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
  • Musa S; Department of Pediatrics, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
  • Mahmoud L; Department of Pediatrics, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
  • Almulla M; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha, Qatar.
  • El-Akouri K; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha, Qatar.
  • Mohd H; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha, Qatar.
  • Bux R; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha, Qatar.
  • Almulla H; Division of Genetic and Genomic Medicine, Sidra Medicine, Doha, Qatar.
  • Othman A; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha, Qatar.
  • Al-Mesaifri F; Division of Genetic and Genomic Medicine, Sidra Medicine, Doha, Qatar.
  • Shahbeck N; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha, Qatar.
  • Al-Muriekhi M; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha, Qatar.
  • Khalifa A; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha, Qatar.
  • Al-Sulaiman R; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha, Qatar.
  • Ben-Omran T; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha, Qatar.
Am J Med Genet A ; 188(1): 116-129, 2022 01.
Article em En | MEDLINE | ID: mdl-34590781
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diabetes Mellitus / Hipogonadismo / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Animals / Humans País/Região como assunto: Asia Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Qatar
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diabetes Mellitus / Hipogonadismo / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Animals / Humans País/Região como assunto: Asia Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Qatar