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Results 1 - 10 of 45 for visser syndrome
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  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. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. KANSL1 gene 
    ... 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/gene/kansl1 - Genetics
  10. Lesch-Nyhan syndrome 
    ... s0387-7604(00)00143-1. Citation on PubMed Visser JE, Bar PR, Jinnah HA. Lesch-Nyhan disease and the basal ganglia. Brain Res Brain Res Rev. 2000 Apr;32(2-3):449-75. doi: 10.1016/s0165-0173(99)00094-6. Citation on PubMed
    https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome - Genetics
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