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Results 1 - 10 of 37 for robert syndrome 2
  1. ESCO2 gene 
    ... Zou H, Jabs EW. The molecular mechanism underlying Roberts syndrome involves ... Hou F, Zou H. Two human orthologues of Eco1/Ctf7 acetyltransferases are both ...
    https://medlineplus.gov/genetics/gene/esco2 - Genetics
  2. TFAP2A gene 
    ... on PubMed Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker ... In: Am J Hum Genet. 2009 Feb;84(2):301. Citation on PubMed or Free article on ...
    https://medlineplus.gov/genetics/gene/tfap2a - Genetics
  3. PTPN11 gene 
    ... Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, ... disease. Eur J Med Genet. 2005 Apr-Jun;48(2):81-96. doi: 10.1016/j.ejmg.2005. ...
    https://medlineplus.gov/genetics/gene/ptpn11 - Genetics
  4. SOS1 gene 
    ... of a child with SOS1 mutation in Noonan syndrome. Neurologia (Engl Ed). 2018 Mar;33(2):137-138. doi: 10.1016/j.nrl.2016.01.002. Epub 2016 Mar 8. No abstract available. English, Spanish. Citation on PubMed Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo ...
    https://medlineplus.gov/genetics/gene/sos1 - Genetics
  5. SMARCA2 gene 
    ... Azad AK, Mirshams M, Chen Z, Xu W, Roberts H, Shepherd FA, Tsao MS, Reisman D. ... International Consortium. Phenotype and genotype in Nicolaides-Baraitser ...
    https://medlineplus.gov/genetics/gene/smarca2 - Genetics
  6. FTL gene 
    ... Best Pract Res Clin Haematol. 2005 Jun;18(2):251-63. doi: ... syndrome: prevalence, lens morphology, spectrum of mutations, and clinical ...
    https://medlineplus.gov/genetics/gene/ftl - Genetics
  7. TWNK gene 
    ... peripheral neuropathy). C10orf2 chromosome 10 open reading frame 2 ... Fratter C, Gorman GS, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  8. MT-ATP6 gene 
    ... Darin N, Tulinius M, Oldfors A, Holme E. Two new mutations in the MTATP6 gene ... Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt ...
    https://medlineplus.gov/genetics/gene/mt-atp6 - Genetics
  9. PRKAG2 gene 
    ... D. Functional analysis of mutations in the gamma 2 subunit of AMP-activated ... L, Bachinski LL, Roberts R. Identification of a gene responsible for familial ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
  10. COL1A2 gene 
    ... three chains. Type I collagen is composed of two pro-α1(I) chains (which are produced from ... and leads to the characteristic features of these two conditions. alpha 2 collagen type I CO1A2_HUMAN ...
    https://medlineplus.gov/genetics/gene/col1a2 - Genetics
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