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Results 1 - 10 of 47 for visser syndrome
  1. Corticosterone methyloxidase deficiency 
    ... Steroid 18-hydroxylase deficiency Steroid 18-oxidase deficiency Visser-Cost syndrome Genetic Testing Registry: Corticosterone methyloxidase type 2 deficiency ...
    https://medlineplus.gov/.../corticosterone-methyloxidase-deficiency - Genetics
  2. Data and Statistics on Tourette Syndrome (Centers for Disease Control and Prevention)  
    Tourette Syndrome/Statistics and Research ... Tourette Syndrome ... Centers for Disease Control and Prevention ... Provides data and statistics on Tourette Syndrome
    https://www.cdc.gov/tourette-syndrome/data - External Health Links
  3. Allan-Herndon-Dudley syndrome 
    ... MH, Jansen J, Sertie AL, Passos-Bueno MR, Visser TJ. Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the ...
    https://medlineplus.gov/.../condition/allan-herndon-dudley-syndrome - Genetics
  4. SLC16A2 gene 
    ... MH, Jansen J, Sertie AL, Passos-Bueno MR, Visser TJ. Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the ...
    https://medlineplus.gov/genetics/gene/slc16a2 - Genetics
  5. Riboflavin transporter deficiency neuronopathy 
    ... van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking ...
    https://medlineplus.gov/...lavin-transporter-deficiency-neuronopathy - Genetics
  6. SLC52A3 gene 
    ... van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking ...
    https://medlineplus.gov/genetics/gene/slc52a3 - Genetics
  7. About Tourette Syndrome (Centers for Disease Control and Prevention)  
    Tourette Syndrome/Start Here ... Tourette Syndrome ... Centers for Disease Control and Prevention ... Tourette syndrome (TS) is a condition of the nervous system. TS ...
    https://www.cdc.gov/tourette-syndrome/about - External Health Links
  8. Koolen-de Vries syndrome 
    ... T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet. 2012 Apr 29;44(6):639- ...
    https://medlineplus.gov/genetics/condition/koolen-de-vries-syndrome - Genetics
  9. PPP2R5D-related intellectual disability 
    ... for Rare Disorders (NORD) ClinicalTrials.gov HOUGE-JANSSENS SYNDROME 1; HJS1 PubMed Houge G, Haesen D, Vissers LE, Mehta S, Parker MJ, Wright M, Vogt ...
    https://medlineplus.gov/.../ppp2r5d-related-intellectual-disability - Genetics
  10. Chromosome 17 
    ... T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet. 2012 Apr 29;44(6):639- ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
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