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Results 1 - 10 of 28 for Citation ID
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. Trisomy 13 
    ... 10.1002/ajmg.a.31056. No abstract available. Citation on PubMed Parker MJ, Budd JL, Draper ES, Young ID. Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations. Prenat Diagn. 2003 ... Citation on PubMed Pont SJ, Robbins JM, Bird TM, ...
    https://medlineplus.gov/genetics/condition/trisomy-13 - Genetics
  7. Anhidrotic ectodermal dysplasia with immune deficiency 
    ... doi: 10.1172/JCI42534. Epub 2011 Dec 12. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/...todermal-dysplasia-with-immune-deficiency - Genetics
  8. Pitt-Hopkins syndrome 
    ... 5):e21. doi: 10.1038/emm.2013.32. Citation on PubMed or Free article on PubMed Central Van Balkom ID, Vuijk PJ, Franssens M, Hoek HW, Hennekam RC. Development, cognition, and behaviour in Pitt-Hopkins syndrome. Dev Med Child ... Jun 19. Citation on PubMed Zweier C, Sticht H, Bijlsma EK, ...
    https://medlineplus.gov/genetics/condition/pitt-hopkins-syndrome - Genetics
  9. Microphthalmia 
    ... 22. doi: 10.1136/jmg.39.1.16. Citation on PubMed or Free article on PubMed Central Ragge NK, Subak-Sharpe ID, Collin JR. A practical guide to the management ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  10. Y chromosome infertility 
    ... 3;15(2). doi: 10.4238/gmr.15028426. Citation on PubMed Mau Kai C, Juul A, McElreavey K, Ottesen AM, Garn ID, Main KM, Loft A, Jorgensen N, Skakkebaek NE, ...
    https://medlineplus.gov/genetics/condition/y-chromosome-infertility - Genetics
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