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Results 1 - 10 of 23 for ko
  1. Kaufman oculocerebrofacial syndrome 
    ... the condition. Blepharophimosis-ptosis-intellectual disability syndrome BPIDS KOS Oculocerebrofacial syndrome, Kaufman type Genetic Testing Registry: Oculocerebrofacial ...
    https://medlineplus.gov/.../kaufman-oculocerebrofacial-syndrome - Genetics
  2. Roberts syndrome 
    ... E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono ... E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Hennekam RC, Jabs EW. Phenotypic ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  3. Alport syndrome 
    ... G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, ... G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, ...
    https://medlineplus.gov/genetics/condition/alport-syndrome - Genetics
  4. 3-methylcrotonyl-CoA carboxylase deficiency 
    ... S, Moslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR. ... JM, Ranieri E, Das AM, Spiekerkotter U, Schwab KO, Potzsch S, Marquardt I, Hennermann JB, Knerr I, ...
    https://medlineplus.gov/...methylcrotonyl-coa-carboxylase-deficiency - Genetics
  5. Distal 18q deletion syndrome 
    ... TH, Pihko SH, Somer MS, Tienari PJ, Wirtavuori KO, Valanne LK. 18q-syndrome: brain MRI shows poor ...
    https://medlineplus.gov/.../condition/distal-18q-deletion-syndrome - Genetics
  6. Townes-Brocks Syndrome 
    ... R, Pierquin G, Michaelis RC, Whiteford ML, Simola KO, Rosler B, Kohlhase J. SALL1 mutation analysis in ...
    https://medlineplus.gov/genetics/condition/townes-brocks-syndrome - Genetics
  7. Dopa-responsive dystonia 
    ... Chan KY, Hui J, Fung CW, Yau E, Ko CH, Lam CW, Mak CM, Siu S, Low ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics
  8. Propionic acidemia 
    ... Sperl W, Kraus JP, Superti-Furga A, Schwab KO, Sass JO. Propionic acidemia: clinical course and outcome ...
    https://medlineplus.gov/genetics/condition/propionic-acidemia - Genetics
  9. Dihydropyrimidinase deficiency 
    ... G, Eyskens FJ, Greed L, Sass JO, Schwab KO, Sewell AC, Walter J, Hahn A, Zoetekouw L, ...
    https://medlineplus.gov/.../condition/dihydropyrimidinase-deficiency - Genetics
  10. Mucopolysaccharidosis type IV 
    ... Carrozzo R, Di Natale P, Christensen E, Orii KO, Orii T, Kondo N, Tomatsu S. Effect of ' ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-iv - Genetics
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