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Results 1 - 10 of 17 for Temtamy syndrome
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  1. 3-M syndrome 
    ... on PubMed or Free article on PubMed Central Temtamy SA, Aglan MS, Ashour AM, Ramzy MI, Hosny LA, Mostafa MI. 3-M syndrome: a report of three Egyptian cases with review ...
    https://medlineplus.gov/genetics/condition/3-m-syndrome - Genetics
  2. ROR2 gene 
    ... El-Ruby M, Mazen I, Abdel-Hamid MS, Temtamy SA. Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations. Am ...
    https://medlineplus.gov/genetics/gene/ror2 - Genetics
  3. Adams-Oliver syndrome 
    ... Zahrani F, Cueto-Gonzalez AM, Abdel-Salam G, Temtamy S, Alkuraya FS. Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. Am J Hum Genet. 2013 Apr 4;92( ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
  4. EOGT gene 
    ... Zahrani F, Cueto-Gonzalez AM, Abdel-Salam G, Temtamy S, Alkuraya FS. Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. Am J Hum Genet. 2013 Apr 4;92( ...
    https://medlineplus.gov/genetics/gene/eogt - Genetics
  5. OBSL1 gene 
    ... on PubMed Hanson D, Murray PG, Sud A, Temtamy SA, Aglan M, Superti-Furga A, Holder SE, Urquhart J, Hilton E, Manson FD, Scambler P, Black GC, Clayton PE. The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Am ...
    https://medlineplus.gov/genetics/gene/obsl1 - Genetics
  6. CUL7 gene 
    ... Sakhinia F, Bonshek C, Wilson LC, Wakeling E, Temtamy SA, Aglan M, Rosser EM, Mansour S, Carcavilla A, Nampoothiri S, Khan WI, Banerjee I, Chandler KE, Black GC, Clayton PE. Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. J Mol ...
    https://medlineplus.gov/genetics/gene/cul7 - Genetics
  7. Ellis-van Creveld syndrome 
    ... S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship JA, Ruiz-Perez VL. Widening ... Citation on PubMed
    https://medlineplus.gov/.../condition/ellis-van-creveld-syndrome - Genetics
  8. Aicardi-Goutières syndrome 
    ... Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt ... associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  9. TREX1 gene 
    ... Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt ... associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, ...
    https://medlineplus.gov/genetics/gene/trex1 - Genetics
  10. RNASEH2A gene 
    ... Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt ... associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, ...
    https://medlineplus.gov/genetics/gene/rnaseh2a - Genetics
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