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Results 1 - 10 of 10 for Patient UK
  1. X-linked juvenile retinoschisis 
    ... retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. J Med Genet. 2005 Jun;42(6):e35. ...
    https://medlineplus.gov/.../x-linked-juvenile-retinoschisis - Genetics
  2. Klinefelter syndrome 
    ... all about the testes: medical issues in Klinefelter patients. Fertil Steril. 2012 ... Jacobs PA; UK Clinical Cytogenetics Group. Cancer incidence and mortality in ...
    https://medlineplus.gov/genetics/condition/klinefelter-syndrome - Genetics
  3. Shwachman-Diamond syndrome 
    ... PubMed Central Grinspan ZM, Pikora CA. Infections in patients with ... JA. Shwachman-Diamond syndrome: UK perspective. Arch Dis Child. 2006 Jun;91(6): ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
  4. Idiopathic inflammatory myopathy 
    ... McHugh NJ, Wedderburn LR, Ollier WE, Cooper RG; UK Adult Onset Myositis ... in British Caucasian patients. Arthritis Rheum. 2008 Oct;58(10):3247-54. ...
    https://medlineplus.gov/.../idiopathic-inflammatory-myopathy - Genetics
  5. Mucopolysaccharidosis type I 
    ... Hurler, Hurler-Scheie and Scheie syndromes in the UK. Orphanet J Rare Dis. 2008 Sep 16;3: ... findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I. Mol Genet Metab. 2007 ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-i - Genetics
  6. LAMA2-related muscular dystrophy 
    ... K, Muntoni F. Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large ... in Chinese laminin-alpha2 deficient congenital muscular dystrophy patients. Clin Genet. 2015 Mar;87(3):233-43. ...
    https://medlineplus.gov/.../lama2-related-muscular-dystrophy - Genetics
  7. Ulcerative colitis 
    ... 32. Epub 2014 May 1. Citation on PubMed UK IBD Genetics Consortium; Barrett JC, Lee JC, Lees ...
    https://medlineplus.gov/genetics/condition/ulcerative-colitis - Genetics
  8. Cone-rod dystrophy 
    ... ME, Van Schil K, Plagnol V, Toomes C; Uk Inherited Retinal Disease Consortium; Ali M, Holder GE, ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  9. Microphthalmia 
    ... JS, Gilbert CE; Surveillance of Eye Anomalies (SEA-UK) Special Interest Group. Anophthalmos, microphthalmos, and typical coloboma ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  10. Neurofibromatosis type 2 
    ... prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet ... 2 (NF2) in childhood: a study of 24 patients. Neuropediatrics. 2005 Feb;36(1):21-34. doi: ...
    https://medlineplus.gov/genetics/condition/neurofibromatosis-type-2 - Genetics