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Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12.
Daneshi, Ahmad; Garshasbi, Masoud; Farhadi, Mohammad; Falavarjani, Khalil Ghasemi; Vafaee-Shahi, Mohammad; Almadani, Navid; Zabihi, MohammadSina; Ghalavand, Mohammad Amin; Falah, Masoumeh.
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  • Daneshi A; ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, School of Medicine, Hazrat Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
  • Garshasbi M; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
  • Farhadi M; ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, School of Medicine, Hazrat Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
  • Falavarjani KG; Eye Research Centre, Five Senses Health Institute, School of Medicine, Hazrat Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
  • Vafaee-Shahi M; Stem Cell and Regenerative Medicine Research Center, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
  • Almadani N; Pediatric Growth and Development Research Center, Institute of Endocrinology and metabolism, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
  • Zabihi M; Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
  • Ghalavand MA; ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, School of Medicine, Hazrat Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
  • Falah M; ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, School of Medicine, Hazrat Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
BMC Med Genomics ; 16(1): 235, 2023 10 06.
Article en En | MEDLINE | ID: mdl-37803361
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Enfermedades Neurodegenerativas Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Irán
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Enfermedades Neurodegenerativas Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Irán