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Results 1 - 10 of 166 for Van der would syndrome 1
  1. Van der Woude syndrome 
    ... Lip-pit syndrome VDWS VWS Genetic Testing Registry: Van der Woude syndrome 1 Van der Woude syndrome National Organization for Rare Disorders (NORD) VAN DER WOUDE SYNDROME 1; VWS1 PubMed Butali A, Mossey PA, Adeyemo WL, ...
    https://medlineplus.gov/genetics/condition/van-der-woude-syndrome - Genetics
  2. Riboflavin transporter deficiency neuronopathy 
    ... for Rare Disorders (NORD) BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1 PubMed Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, ...
    https://medlineplus.gov/...lavin-transporter-deficiency-neuronopathy - 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/s11926-010-0086-1. Citation on PubMed van der Hilst JCH, Bodar ...
    https://medlineplus.gov/.../condition/mevalonate-kinase-deficiency - Genetics
  4. Noonan syndrome 
    ... of Noonan syndrome. Nat Genet. 2007 Jan;39(1):75-9. doi: 10.1038/ng1939. Epub 2006 Dec 13. Erratum In: Nat Genet. 2007 Feb;39(2):276. Citation on PubMed van der Burgt I. Noonan syndrome. Orphanet J Rare Dis. 2007 Jan 14;2: ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  5. GTF2IRD1 gene 
    ... CC, Koekkoek SK, Frens MA, van Camp N, van der Linden A, Jansweijer MC, Thorgeirsson SS, De Zeeuw CI. Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome. Neurobiol Dis. 2007 Apr;26(1):112-24. doi: 10.1016/j.nbd.2006. ...
    https://medlineplus.gov/genetics/gene/gtf2ird1 - Genetics
  6. Warsaw breakage syndrome 
    ... a novel mutation in DDX11 causing Warsaw breakage syndrome. Hum Mutat. 2013 Jan;34(1):103-7. doi: 10.1002/humu.22226. Epub 2012 Oct 17. Citation on PubMed or Free article on PubMed Central van der Lelij P, Chrzanowska KH, Godthelp BC, Rooimans MA, ...
    https://medlineplus.gov/genetics/condition/warsaw-breakage-syndrome - Genetics
  7. Mucopolysaccharidosis type II 
    ... Tylki-Szymanska A. Mucopolysaccharidosis type II, Hunter's syndrome. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:107-13. Citation on PubMed Wraith JE, Scarpa M, Beck M, Bodamer OA, De Meirleir L, Guffon N, Meldgaard Lund A, Malm G, Van der Ploeg AT, Zeman J. Mucopolysaccharidosis type II (Hunter ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-ii - Genetics
  8. SPINK5 gene 
    ... Buzy L, Furio L, Tron E, Valari M, Van der Wier G, Bodemer C, Bygum A, ... Invest Dermatol. 2012 Mar;132(3 Pt 1):575-82. doi: 10.1038/jid.2011.366. ...
    https://medlineplus.gov/genetics/gene/spink5 - Genetics
  9. Netherton syndrome 
    ... Buzy L, Furio L, Tron E, Valari M, Van der Wier G, Bodemer C, Bygum A, ... Invest Dermatol. 2012 Mar;132(3 Pt 1):575-82. doi: 10.1038/jid.2011.366. ...
    https://medlineplus.gov/genetics/condition/netherton-syndrome - Genetics
  10. Branchio-oculo-facial syndrome 
    ... Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, Rumyantseva NV, Stengel-Rutkowski S, Rosenbaum K, Meinecke P, et al. Further delineation of the branchio-oculo-facial syndrome. Am J Med Genet. 1995 Mar 13;56(1):42-59. doi: 10.1002/ajmg.1320560112. Citation ...
    https://medlineplus.gov/.../condition/branchio-oculo-facial-syndrome - Genetics
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