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Results 61 - 70 of 81 for Miller syndrome
  1. PMP22 gene 
    ... Wu X, Feely SM, Sottile S, Siskind CE, Miller LJ, Shy ME, Li J. PMP22 ... PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet. 2015 Nov 5;97( ...
    https://medlineplus.gov/genetics/gene/pmp22 - Genetics
  2. Myasthenia gravis 
    ... not an autoimmune disorder, is called congenital myasthenic syndrome. ... Citation on PubMed Avidan N, Le Panse R, Berrih-Aknin S, Miller A. Genetic basis of myasthenia gravis - a comprehensive ...
    https://medlineplus.gov/genetics/condition/myasthenia-gravis - Genetics
  3. Spinal muscular atrophy with lower extremity predominance 
    ... proximal spinal muscular atrophy with contractures Kugelberg-Welander syndrome, autosomal dominant Lower ... Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, ...
    https://medlineplus.gov/...atrophy-with-lower-extremity-predominance - Genetics
  4. Hereditary neuralgic amyotrophy 
    ... 2. Citation on PubMed Hannibal MC, Ruzzo EK, Miller LR, ... Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 ...
    https://medlineplus.gov/.../hereditary-neuralgic-amyotrophy - Genetics
  5. SEPTIN9 gene 
    ... 1474. Citation on PubMed Hannibal MC, Ruzzo EK, Miller LR, ... Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 ...
    https://medlineplus.gov/genetics/gene/septin9 - Genetics
  6. Asparagine synthetase deficiency 
    ... Registry: Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ... R, Cardamone M, Kandula T, Morris P, Dias KR, Tao J, Miller D, Zhu Y, Macintosh R, Dinger ME, Cowley ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
  7. STK11 gene 
    ... McGarrity TJ, Amos CI, Baker MJ. Peutz-Jeghers Syndrome. 2001 Feb 23 [updated 2021 ... T, Shimamura T, Miller DS, Sharpless NE, Bardeesy N, Kwiatkowski DJ, Schorge ...
    https://medlineplus.gov/genetics/gene/stk11 - Genetics
  8. Sick sinus syndrome 
    ... Leach I, McArdle WL, McCarroll SA, Medland SE, Miller KA, Montgomery GW, Morrison ... of sick sinus syndrome. Circulation. 2007 Apr 10;115(14):1921-32. ...
    https://medlineplus.gov/genetics/condition/sick-sinus-syndrome - Genetics
  9. CLPB deficiency 
    ... neutropenia 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome MEGCANN ... I, Christensen M, Atherton A, Farrow E, Miller N, Kingsmore SF, Ostergaard E. CLPB variants associated ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  10. Septo-optic dysplasia 
    ... is sufficient to cause the condition. ... Epub 2006 Dec 5. Citation on PubMed Miller SP, Shevell MI, Patenaude Y, Poulin C, O' ...
    https://medlineplus.gov/genetics/condition/septo-optic-dysplasia - Genetics
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