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Results 1 - 10 of 13 for heller syndrome 1
  1. Cardiofaciocutaneous syndrome 
    ... der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hubner CA, Korenke ... syndrome. Clin Genet. 2008 Jan;73(1):62-70. doi: 10.1111/j.1399-0004. ...
    https://medlineplus.gov/.../condition/cardiofaciocutaneous-syndrome - Genetics
  2. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy 
    ... deficiency APECED APS type 1 APS1 Autoimmune polyendocrinopathy syndrome type 1 Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy Autoimmune ...
    https://medlineplus.gov/...inopathy-candidiasis-ectodermal-dystrophy - Genetics
  3. ADA2 gene 
    ... Health Condition adenosine deaminase CECR1 ADGF cat eye syndrome chromosome region, candidate 1 cat eye syndrome critical region protein 1 CECR1 IDGFL SNEDS Tests of ADA2 PubMed ADENOSINE ...
    https://medlineplus.gov/genetics/gene/ada2 - Genetics
  4. Chromosome 2 
    ... BB, Gusella JF, Elsea SH. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of ...
    https://medlineplus.gov/genetics/chromosome/2 - Genetics
  5. Bernard-Soulier syndrome 
    ... heavy or prolonged menstrual bleeding (menorrhagia). Bernard-Soulier syndrome is estimated to occur in 1 in 1 million individuals; however, some doctors think ...
    https://medlineplus.gov/genetics/condition/bernard-soulier-syndrome - Genetics
  6. What Are Common Treatments for Down Syndrome? From the National Institutes of Health (Eunice Kennedy Shriver National Institute of Child Health and Human Development)  
    Down Syndrome/Treatments and Therapies ... Down Syndrome ... Eunice Kennedy Shriver National Institute of Child Health and Human Development ... From the National Institutes ...
    https://www.nichd.nih.gov/.../topics/down/conditioninfo/treatments - External Health Links
  7. Multiple pterygium syndrome 
    ... Diversity of neuromuscular pathology in lethal multiple pterygium syndrome. Pediatr Dev Pathol. 2003 Jan-Feb;6(1):59-68. doi: 10.1007/s10024-002-0042- ...
    https://medlineplus.gov/.../condition/multiple-pterygium-syndrome - Genetics
  8. Miller Fisher Syndrome (GBS/CIDP Foundation International) - PDF  
    Guillain-Barre Syndrome/Specifics ... Guillain-Barre Syndrome ... GBS/CIDP Foundation International ... PDF
    https://www.gbs-cidp.org/.../2012/01/MillerFisherSyndrome.pdf - External Health Links
  9. Cone-rod dystrophy 
    ... or it can occur as part of a syndrome that affects multiple parts of the body. Cone-rod dystrophy is estimated to affect 1 in 30,000 to 40,000 individuals. Mutations ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  10. AIRE gene 
    ... Bishop RJ, Holland SM, Olivier KN, Fleisher TA, Heller T, Winer KK, Lionakis MS. Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. JCI Insight. 2016 Aug 18;1(13):e88782. doi: 10.1172/jci.insight.88782. ...
    https://medlineplus.gov/genetics/gene/aire - Genetics
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