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Results 1 - 10 of 78 for robert syndrome 13
  1. Roberts syndrome 
    ... Roberts syndrome National Organization for Rare Disorders (NORD) ROBERTS-SC PHOCOMELIA SYNDROME; RBS PubMed Dorsett D. Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes. Chromosoma. 2007 Feb;116(1):1-13. doi: 10.1007/s00412-006-0072-6. Epub ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  2. ESCO2 gene 
    ... ESCO2 gene mutations have been found to cause Roberts syndrome, which is characterized by limb and facial abnormalities ... around the chromosome's constriction point (centromere). In Roberts syndrome, cells respond to abnormal sister chromatid attachment by ...
    https://medlineplus.gov/genetics/gene/esco2 - Genetics
  3. Wolff-Parkinson-White syndrome 
    ... J. 1999 Sep;138(3 Pt 1):403-13. doi: 10.1016/s0002-8703(99)70140-7. Citation on ... L, Bachinski LL, Roberts R. Identification of a gene responsible for familial ...
    https://medlineplus.gov/.../condition/wolff-parkinson-white-syndrome - Genetics
  4. Ehlers-Danlos syndrome 
    ... were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.An unusually large ... doi: 10.1002/(sici)1096-8628(19980428)77:13.0.co;2-o. Citation on PubMed Bowen ...
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome -
  5. 6q24-related transient neonatal diabetes mellitus 
    ... the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised ... 10.1136/jmg.2006.044404. Epub 2006 Sep 13. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/...ated-transient-neonatal-diabetes-mellitus - Genetics
  6. Chromosome 6 
    ... the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised ... 10.1136/jmg.2006.044404. Epub 2006 Sep 13. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/chromosome/6 - Genetics
  7. Noonan syndrome 
    ... puberty. They go through puberty starting at age 13 or 14 and have a reduced pubertal growth ... 9. doi: 10.1038/ng1939. Epub 2006 Dec 13. Erratum In: Nat Genet. 2007 Feb;39(2): ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  8. SOS1 gene 
    ... hereditary gingival fibromatosis. J Biol Chem. 2007 Jul 13;282(28):20245-55. doi: 10.1074/jbc. ... 9. doi: 10.1038/ng1939. Epub 2006 Dec 13. Erratum In: Nat Genet. 2007 Feb;39(2): ...
    https://medlineplus.gov/genetics/gene/sos1 - Genetics
  9. KRAS gene 
    ... the amino acid glycine at position 12 or 13 (Gly12 or Gly13) or change the amino acid ... j.bbcan.2005.06.003. Epub 2005 Jul 13. Citation on PubMed Furukawa T, Sunamura M, Horii ...
    https://medlineplus.gov/genetics/gene/kras - Genetics
  10. 3MC syndrome 
    ... early craniofacial development. PLoS Genet. 2017 Mar 16;13(3):e1006679. doi: 10.1371/journal.pgen.1006679. ... with 3MC syndrome. BMC Biol. 2015 Apr 17;13:27. doi: 10.1186/s12915-015-0136-2. ...
    https://medlineplus.gov/genetics/condition/3mc-syndrome - Genetics
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