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Results 1 - 10 of 40 for kaplan syndrome
  1. Chediak-Higashi syndrome 
    ... 22. Citation on PubMed Ward DM, Shiflett SL, Kaplan J. Chediak-Higashi syndrome: a clinical and molecular view of a rare ...
    https://medlineplus.gov/genetics/condition/chediak-higashi-syndrome - Genetics
  2. LYST gene 
    ... article on PubMed Central Ward DM, Shiflett SL, Kaplan J. Chediak-Higashi syndrome: a clinical and molecular view of a rare ...
    https://medlineplus.gov/genetics/gene/lyst - Genetics
  3. Alström syndrome 
    ... Hoffman JD, Jacobson Z, Young TL, Marshall JD, Kaplan P. Familial variable expression of dilated cardiomyopathy in Alstrom syndrome: a report of four sibs. Am J Med ...
    https://medlineplus.gov/genetics/condition/alstrom-syndrome - Genetics
  4. Mainzer-Saldino syndrome 
    ... Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  5. IFT140 gene 
    ... Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am ...
    https://medlineplus.gov/genetics/gene/ift140 - Genetics
  6. Sturge-Weber syndrome 
    ... for Rare Disorders (NORD) ClinicalTrials.gov STURGE-WEBER SYNDROME; SWS PubMed Comi AM, Sahin M, Hammill A, Kaplan EH, Juhasz C, North P, Ball KL, Levin ...
    https://medlineplus.gov/genetics/condition/sturge-weber-syndrome - Genetics
  7. Xia-Gibbs syndrome 
    ... Denenberg EH, Mazzola S, Fiordaliso SK, Krantz ID, Kaplan P, Ierardi-Curto L, Santani AB, Zackai EH, Izumi K. Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single ...
    https://medlineplus.gov/genetics/condition/xia-gibbs-syndrome - Genetics
  8. AHDC1 gene 
    ... Denenberg EH, Mazzola S, Fiordaliso SK, Krantz ID, Kaplan P, Ierardi-Curto L, Santani AB, Zackai EH, Izumi K. Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single ...
    https://medlineplus.gov/genetics/gene/ahdc1 - Genetics
  9. Gillespie syndrome 
    ... Delous M, Dollfus H, Boddaert N, Lyonnet S, Kaplan J, Calvas P, Yule DI, Rozet JM, Fares Taie L. Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome. Am J Hum Genet. 2016 May 5;98( ...
    https://medlineplus.gov/genetics/condition/gillespie-syndrome - Genetics
  10. ITPR1 gene 
    ... Delous M, Dollfus H, Boddaert N, Lyonnet S, Kaplan J, Calvas P, Yule DI, Rozet JM, Fares Taie L. Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome. Am J Hum Genet. 2016 May 5;98( ...
    https://medlineplus.gov/genetics/gene/itpr1 - Genetics
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