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Clinical symptoms
- ... do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of ...
- ... Kellner U, Weber BH. X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res. 2012 May;31(3):195-212. doi: 10.1016/j.preteyeres.2011.12.002. Epub 2012 ... X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. ...
- ... Vahlquist A. Sjogren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients. Acta ...
- ... Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling. J Neuromuscul Dis. 2015 Jun ...
- ... PubMed Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet ...
- ... Central Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet ...
- ... inherited CPVT type 3 with severe and variable clinical symptoms. J Cardiovasc Electrophysiol. 2020 Jun;31(6):1527- ...
- ... do not meet the strict guidelines for a clinical diagnosis of Proteus syndrome. Instead, these individuals have a ...
- ... and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Hum Genet. 2013 Aug;132( ...
- ... Kellner U, Weber BH. X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye ...