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Results 1 - 10 of 63 for robert syndrome 28
  1. Roberts syndrome 
    ... 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. ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  2. ESCO2 gene 
    ... 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. ...
    https://medlineplus.gov/genetics/gene/esco2 - Genetics
  3. Branchio-oculo-facial syndrome 
    ... 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 ...
    https://medlineplus.gov/.../condition/branchio-oculo-facial-syndrome - Genetics
  4. TFAP2A gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/tfap2a - Genetics
  5. SOS1 gene 
    ... fibromatosis. J Biol Chem. 2007 Jul 13;282(28):20245-55. doi: 10.1074/jbc.M701609200. ... Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo ...
    https://medlineplus.gov/genetics/gene/sos1 - Genetics
  6. 3MC syndrome 
    ... j.ajhg.2010.09.018. Epub 2010 Oct 28. Citation on PubMed or Free article on PubMed ... Urquhart J, Roberts R, de Silva D, Shalev S, Chervinsky E, ...
    https://medlineplus.gov/genetics/condition/3mc-syndrome - Genetics
  7. TWNK gene 
    ... progressive external ophthalmoplegia. J Mol Biol. 2008 Mar 28;377(3):691-705. doi: 10.1016/j. ... protein localized in mitochondria. Nat Genet. 2001 Jul;28(3):223-31. doi: 10.1038/90058. Erratum ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  8. BSCL2 gene 
    ... Charcot-Marie-Tooth Hereditary Neuropathy Overview. 1998 Sep 28 [updated 2025 Jan 23]. In: Adam MP, Feldman ... lipodystrophy on chromosome 11q13. Nat Genet. 2001 Aug;28(4):365-70. doi: 10.1038/ng585. Citation ...
    https://medlineplus.gov/genetics/gene/bscl2 - Genetics
  9. Coronavirus Disease 2019 (COVID-19) Vaccine Safety (Centers for Disease Control and Prevention)  
    COVID-19 Vaccines/Related Issues ... COVID-19 Vaccines ... Centers for Disease Control and Prevention ... Learn safety information about the COVID-19 vaccine
    https://www.cdc.gov/vaccine-safety/vaccines/covid-19.html - External Health Links
  10. FTL gene 
    ... onset basal ganglia disease. Nat Genet. 2001 Aug;28(4):350-4. doi: 10.1038/ng571. Citation ...
    https://medlineplus.gov/genetics/gene/ftl - Genetics
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