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Results 1 - 10 of 71 for Citation ID
  1. SLC46A1 gene 
    ... doi: 10.1016/j.cmet.2006.12.004. Citation on PubMed Goldman ID. Hereditary Folate Malabsorption. 2008 Jun 17 [updated 2024 ... doi: 10.1301/nr.2007.dec.554-557. Citation on PubMed Zhao R, Goldman ID. The molecular identity and characterization of a Proton- ...
    https://medlineplus.gov/genetics/gene/slc46a1 - Genetics
  2. Hereditary folate malabsorption 
    ... doi: 10.1016/j.cmet.2006.12.004. Citation on PubMed Goldman ID. Hereditary Folate Malabsorption. 2008 Jun 17 [updated 2024 ... doi: 10.1301/nr.2007.dec.554-557. Citation on PubMed Zhao R, Matherly LH, Goldman ID. Membrane transporters and folate homeostasis: intestinal absorption and ...
    https://medlineplus.gov/.../hereditary-folate-malabsorption - Genetics
  3. Cornelia de Lange syndrome 
    ... 666. doi: 10.1038/s41576-018-0031-0. Citation on PubMed Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, ... doi: 10.1038/ng1364. Epub 2004 May 16. Citation on PubMed or Free article on PubMed ... V, Krantz ID, Musio A. Mutation spectrum and genotype-phenotype correlation ...
    https://medlineplus.gov/.../condition/cornelia-de-lange-syndrome - Genetics
  4. Chronic atrial and intestinal dysrhythmia 
    ... 10.1038/ng.3113. Epub 2014 Oct 5. Citation on PubMed Krantz ID. Cohesin embraces new phenotypes. Nat Genet. 2014 Nov;46(11):1157-8. doi: 10.1038/ng.3123. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/...chronic-atrial-and-intestinal-dysrhythmia - Genetics
  5. SGO1 gene 
    ... tig.2012.03.003. Epub 2012 Apr 27. Citation on PubMed Krantz ID. Cohesin embraces new phenotypes. Nat Genet. 2014 Nov;46(11):1157-8. doi: 10.1038/ng.3123. Citation on PubMed or Free article on PubMed Central ...
    https://medlineplus.gov/genetics/gene/sgo1 - Genetics
  6. JAG1 gene 
    ... 1004(2001)17:13.0.CO;2-T. Citation on PubMed Spinner NB, Loomes KM, Krantz ID, Gilbert MA. Alagille Syndrome. 2000 May 19 [updated 2024 Jan 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, ... Citation on PubMed
    https://medlineplus.gov/genetics/gene/jag1 - Genetics
  7. BEST1 gene 
    ... 1136/jmg.2008.059881. Epub 2008 Jul 8. Citation on PubMed Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere ... doi: 10.1016/j.ajhg.2007.08.004. Citation on PubMed or Free article on PubMed Central Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
  8. Hennekam syndrome 
    ... 3):83-87. doi: 10.1097/MCD.0000000000000036. Citation on PubMed Van Balkom ID, Alders M, Allanson J, Bellini C, Frank U, De Jong G, Kolbe I, Lacombe D, Rockson S, Rowe P, Wijburg F, Hennekam RC. ... 10.1002/ajmg.10707. Citation on PubMed
    https://medlineplus.gov/genetics/condition/hennekam-syndrome - Genetics
  9. Alagille syndrome 
    ... 1004(2001)17:13.0.CO;2-T. Citation on PubMed Spinner NB, Loomes KM, Krantz ID, Gilbert MA. Alagille Syndrome. 2000 May 19 [updated ... 1038/ejhg.2011.181. Epub 2011 Sep 21. Citation on PubMed or Free article on PubMed ... DA, Krantz ID, Spinner NB. Jagged1 (JAG1) mutations in Alagille syndrome: ...
    https://medlineplus.gov/genetics/condition/alagille-syndrome - Genetics
  10. RPS6KA3 gene 
    ... doi: 10.1016/j.modgep.2003.06.001. Citation on PubMed Hanauer A, Young ID. Coffin-Lowry syndrome: clinical and molecular features. J Med Genet. 2002 Oct;39(10):705-13. doi: 10.1136/jmg.39.10.705. Citation on PubMed or Free article on PubMed Central ...
    https://medlineplus.gov/genetics/gene/rps6ka3 - Genetics
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