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32
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robert syndrome 31
- ... Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. Am J Hum Genet. 2005 Dec;77(6):1117-28. doi: 10.1086/498695. Epub 2005 Oct 31. Citation on PubMed or Free article on PubMed ...
- ... Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. Am J Hum Genet. 2005 Dec;77(6):1117-28. doi: 10.1086/498695. Epub 2005 Oct 31. Citation on PubMed or Free article on PubMed ...
- ... Lozado R, Shah G, Fananapazir L, Bachinski LL, Roberts R. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med. 2001 Jun 14;344(24):1823-31. doi: 10.1056/NEJM200106143442403. Erratum In: N Engl ...
- ... Lozado R, Shah G, Fananapazir L, Bachinski LL, Roberts R. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med. 2001 Jun 14;344(24):1823-31. doi: 10.1056/NEJM200106143442403. Erratum In: N Engl ...
- ... Morgan MB, Muzny DM, Stein L, McPherson JD, Roberts AE, Gibbs RA, Neel BG, Kucherlapati R. Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci U S A. 2014 Aug 5;111(31):11473-8. doi: 10.1073/pnas.1324128111. Epub ...
- ... Lin AE, Haldeman-Englert CR, Milunsky JM. Branchiooculofacial Syndrome. 2011 May 31 ... JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens ...
- ... Lin AE, Haldeman-Englert CR, Milunsky JM. Branchiooculofacial Syndrome. 2011 May 31 ... JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens ...
- ... body to produce red blood cells. At least 31 mutations in the FTL gene have been identified ... Mol Dis. 2002 Nov-Dec;29(3):522-31. doi: 10.1006/bcmd.2002.0589. Citation on ...
- ... doi: 10.1093/hmg/ddi328. Epub 2005 Aug 31. Citation on PubMed Spelbrink JN, Li FY, Tiranti ... mitochondria. Nat Genet. 2001 Jul;28(3):223-31. doi: 10.1038/90058. Erratum In: Nat Genet ...
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