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Results 1 - 10 of 174 for Van der would syndrome 2
  1. Van der Woude syndrome 
    ... Dixon MJ, Murray JC. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet. 2002 Oct;32(2):285-9. doi: 10.1038/ng985. Epub 2002 ...
    https://medlineplus.gov/genetics/condition/van-der-woude-syndrome - Genetics
  2. Popliteal pterygium syndrome 
    ... Dixon MJ, Murray JC. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet. 2002 Oct;32(2):285-9. doi: 10.1038/ng985. Epub 2002 ...
    https://medlineplus.gov/.../condition/popliteal-pterygium-syndrome - Genetics
  3. Mevalonate kinase deficiency 
    ... doi: 10.1002/humu.20361. Citation on PubMed van der Hilst JC, Frenkel J. Hyperimmunoglobulin D syndrome in childhood. Curr Rheumatol Rep. 2010 Apr;12(2):101-7. doi: 10.1007/s11926-010-0086- ...
    https://medlineplus.gov/.../condition/mevalonate-kinase-deficiency - Genetics
  4. Noonan syndrome 
    ... ng1939. Epub 2006 Dec 13. Citation on PubMed van der Burgt I. Noonan syndrome. Orphanet J Rare Dis. 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4. Citation on PubMed or Free article on PubMed Central Vissers ... Costa JL, Tartaglia M, van der Burgt I, Yntema HG, den Hertog J. Heterozygous ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  5. IRF6 gene 
    ... Dixon MJ, Murray JC. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet. 2002 Oct;32(2):285-9. doi: 10.1038/ng985. Epub 2002 ...
    https://medlineplus.gov/genetics/gene/irf6 - Genetics
  6. Peeling skin syndrome 2 
    ... National Organization for Rare Disorders (NORD) PEELING SKIN SYNDROME 2; PSS2 PubMed Cassidy AJ, van Steensel MA, Steijlen PM, van Geel M, van der Velden J, Morley SM, Terrinoni A, Melino G, ...
    https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2 - Genetics
  7. 3-M syndrome 
    ... of the literature. Clin Dysmorphol. 2006 Apr;15(2):55-64. doi: 10.1097/01.mcd.0000198926.01706.33. Citation on PubMed van der Wal G, Otten BJ, Brunner HG, van der Burgt I. 3-M syndrome: description of six new patients with review of ...
    https://medlineplus.gov/genetics/condition/3-m-syndrome - Genetics
  8. Warsaw breakage syndrome 
    ... on PubMed or Free article on PubMed Central van der Lelij P, Chrzanowska ... Am J Hum Genet. 2010 Feb 12;86(2):262-6. doi: 10.1016/j.ajhg.2010. ...
    https://medlineplus.gov/genetics/condition/warsaw-breakage-syndrome - Genetics
  9. SMCHD1 gene 
    ... also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9. Citation on PubMed Tawil R, van der Maarel SM, Tapscott SJ. Facioscapulohumeral dystrophy: the path ...
    https://medlineplus.gov/genetics/gene/smchd1 - Genetics
  10. PHGDH gene 
    ... ClinVar de Koning TJ, Klomp LW. Serine-deficiency syndromes. Curr Opin Neurol. 2004 Apr;17(2):197-204. doi: 10.1097/00019052-200404000-00019. Citation on PubMed Fuchs SA, Dorland L, de Sain-van der Velden MG, Hendriks M, Klomp LW, Berger R, ...
    https://medlineplus.gov/genetics/gene/phgdh - Genetics
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