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Results 1 - 10 of 17 for hi
  1. Harlequin ichthyosis 
    ... Autosomal recessive congenital ichthyosis 4B Harlequin baby syndrome HI Ichthyosis congenita, harlequin fetus type Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/harlequin-ichthyosis - Genetics
  2. Majeed syndrome 
    ... Al-Saad KK, Ijadi-Maghsoodi R, El-Shanti HI, Ferguson PJ. A splice site mutation confirms the ... 1002/art.22431. Citation on PubMed El-Shanti HI, Ferguson PJ. Chronic recurrent multifocal osteomyelitis: a concise ...
    https://medlineplus.gov/genetics/condition/majeed-syndrome - Genetics
  3. PRICKLE1-related progressive myoclonus epilepsy with ataxia 
    ... Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti HI. A homozygous mutation in human PRICKLE1 causes an ...
    https://medlineplus.gov/...rogressive-myoclonus-epilepsy-with-ataxia - Genetics
  4. Dementia with Lewy bodies 
    ... C, Brice A, Giasson BI, Trojanowski JQ, Hurtig HI, Tayebi N, Landazabal C, Knight MA, Keller M, ...
    https://medlineplus.gov/genetics/condition/dementia-with-lewy-bodies - Genetics
  5. Freeman-Sheldon syndrome 
    ... Citation on PubMed Beck AE, McMillin MJ, Gildersleeve HI, Shively KM, Tang A, Bamshad MJ. Genotype-phenotype ...
    https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome - Genetics
  6. Laryngo-onycho-cutaneous syndrome 
    ... 10.1111/bjd.12522. Citation on PubMed Cohn HI, Murrell DF. Laryngo-onycho-cutaneous syndrome. Dermatol Clin. ...
    https://medlineplus.gov/.../laryngo-onycho-cutaneous-syndrome - Genetics
  7. Renal hypouricemia 
    ... Central Tasic V, Hynes AM, Kitamura K, Cheong HI, Lozanovski VJ, Gucev Z, Jutabha P, Anzai N, ...
    https://medlineplus.gov/genetics/condition/renal-hypouricemia - Genetics
  8. Renal coloboma syndrome 
    ... nih.gov/books/NBK1451/ Citation on PubMed Cheong HI, Cho HY, Kim JH, Yu YS, Ha IS, ...
    https://medlineplus.gov/genetics/condition/renal-coloboma-syndrome - Genetics
  9. Citrullinemia 
    ... Epub 2011 Mar 21. Citation on PubMed Woo HI, Park HD, Lee YW. Molecular genetics of citrullinemia ...
    https://medlineplus.gov/genetics/condition/citrullinemia - Genetics
  10. Progressive supranuclear palsy 
    ... P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, ...
    https://medlineplus.gov/.../condition/progressive-supranuclear-palsy - Genetics
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