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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-37803361
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinitis Pigmentosa / Neurodegenerative Diseases Type of study: Diagnostic_studies / Guideline / Prognostic_studies Limits: Humans Language: En Journal: BMC Med Genomics Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinitis Pigmentosa / Neurodegenerative Diseases Type of study: Diagnostic_studies / Guideline / Prognostic_studies Limits: Humans Language: En Journal: BMC Med Genomics Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Country of publication: