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Results 1 - 10 of 57 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. 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
  4. 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
  5. 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
  6. 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
  7. Videos from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Video From the National Institutes of Health (Eunice Kennedy Shriver National Institute of Child Health and Human Development)  
    ... Rare Disease Research at NICHD: Cushing Syndrome (02/28/2018) Text Alternative BACK TO TOP Right Hand ...
    https://www.nichd.nih.gov/newsroom/digital-media/videos - Videos
  8. 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
  9. BSCL2 gene 
    ... Charcot-Marie-Tooth Hereditary Neuropathy Overview. 1998 Sep 28 [updated 2024 Apr 25]. 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
  10. Annual Report to the Nation on the Status of Cancer, 1975-2014, Featuring Survival From the National Institutes of Health (National Cancer Institute)  
    Cancer/Statistics and Research ... Cancer ... National Cancer Institute ... From the National Institutes of Health ... AbstractBackground. The American Cancer Society (ACS), ...
    https://academic.oup.com/jnci/article/109/9/djx030/3092246 - External Health Links
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