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Results 11 - 20 of 60 for kaplan syndrome
  1. 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
  2. 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
  3. GNAQ gene 
    ... Gene ClinVar Comi AM, Sahin M, Hammill A, Kaplan EH, Juhasz C, North P, Ball KL, Levin AV, Cohen B, Morris J, Lo W, Roach ES; 2015 Sturge-Weber Syndrome Research Workshop. Leveraging a Sturge-Weber Gene Discovery: ...
    https://medlineplus.gov/genetics/gene/gnaq - Genetics
  4. MYO7A gene 
    ... article on PubMed Central Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD, et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature. 1995 Mar 2;374(6517): ...
    https://medlineplus.gov/genetics/gene/myo7a - Genetics
  5. GNS gene 
    ... GNS NCBI Gene ClinVar Jansen AC, Cao H, Kaplan P, Silver K, Leonard G, De Meirleir L, Lissens W, Liebaers I, Veilleux M, Andermann F, Hegele RA, Andermann E. Sanfilippo syndrome type D: natural history and identification of 3 ...
    https://medlineplus.gov/genetics/gene/gns - Genetics
  6. COL4A5 gene 
    ... Meglic A, Jaksa I, Furlan P, Gregoric A, Kaplan-Pavlovcic S, Ravnik-Glavac M, Glavac D. Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. Kidney Int. 2007 Jun; ...
    https://medlineplus.gov/genetics/gene/col4a5 - Genetics
  7. COL4A4 gene 
    ... Meglic A, Jaksa I, Furlan P, Gregoric A, Kaplan-Pavlovcic S, Ravnik-Glavac M, Glavac D. Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. Kidney Int. 2007 Jun; ...
    https://medlineplus.gov/genetics/gene/col4a4 - Genetics
  8. Alport syndrome 
    ... Meglic A, Jaksa I, Furlan P, Gregoric A, Kaplan-Pavlovcic S, Ravnik-Glavac M, Glavac D. Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. Kidney Int. 2007 Jun; ...
    https://medlineplus.gov/genetics/condition/alport-syndrome - Genetics
  9. COL4A3 gene 
    ... Meglic A, Jaksa I, Furlan P, Gregoric A, Kaplan-Pavlovcic S, Ravnik-Glavac M, Glavac D. Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. Kidney Int. 2007 Jun; ...
    https://medlineplus.gov/genetics/gene/col4a3 - Genetics
  10. SMAD4 gene 
    ... JB, Edmondson AC, Zackai E, O'Connor MJ, Kaplan JD, Ebeid MR, Krier J, Krieg E, Ghoshhajra B, Lindsay ME. Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. Am J Med Genet A. 2016 Oct;170( ...
    https://medlineplus.gov/genetics/gene/smad4 - Genetics
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