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Results 1 - 10 of 114 for pd
  1. SLC26A4 gene 
    ... Hashimoto's disease More About This Health Condition PDS pendrin S26A4_HUMAN solute carrier family 26 (anion ... Central Kopp P. Mutations in the Pendred Syndrome (PDS/SLC26A) gene: an increasingly complex phenotypic spectrum from ...
    https://medlineplus.gov/genetics/gene/slc26a4 - Genetics
  2. Parkinson's disease 
    ... the inheritance pattern is usually unknown. Parkinson disease PD Primary parkinsonism Genetic Testing Registry: Autosomal dominant Parkinson ... Disorders (NORD) ClinicalTrials.gov PARKINSON DISEASE, LATE-ONSET; PD PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1 PARKINSON DISEASE, ...
    https://medlineplus.gov/genetics/condition/parkinsons-disease - Genetics
  3. Prolidase deficiency 
    ... and symptoms of the condition. Hyperimidodipeptiduria Imidodipeptidase deficiency PD Peptidase deficiency Genetic Testing Registry: Prolidase deficiency Prolidase ...
    https://medlineplus.gov/genetics/condition/prolidase-deficiency - Genetics
  4. SNCA gene 
    The SNCA gene provides instructions for making a small protein called alpha-synuclein. Alpha-synuclein is abundant in the brain, and smaller amounts are ...
    https://medlineplus.gov/genetics/gene/snca - Genetics
  5. Factor XIII deficiency 
    Factor XIII deficiency is a rare bleeding disorder. Researchers have identified an inherited form and a less severe form that is acquired during a person's ...
    https://medlineplus.gov/genetics/condition/factor-xiii-deficiency - Genetics
  6. Spondylocostal dysostosis 
    ... WE, Lampl BS, Cornier AS, Ramirez N, Turnpenny PD, Vitale MG, Seimon LP, Cowles RA. Clinical and ... ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD. Mutations in the human delta homologue, DLL3, cause ...
    https://medlineplus.gov/genetics/condition/spondylocostal-dysostosis - Genetics
  7. Familial encephalopathy with neuroserpin inclusion bodies 
    ... PubMed Bradshaw CB, Davis RL, Shrimpton AE, Holohan PD, Rea CB, Fieglin D, Kent P, Collins GH. ... abstract available. Citation on PubMed Davis RL, Holohan PD, Shrimpton AE, Tatum AH, Daucher J, Collins GH, ...
    https://medlineplus.gov/...lopathy-with-neuroserpin-inclusion-bodies - Genetics
  8. Jacobsen syndrome 
    ... SYNDROME; JBS PubMed Akshoomoff N, Mattson SN, Grossfeld PD. Evidence for autism spectrum disorder in Jacobsen syndrome: ... LM, Mattson SN, Riley EP, Treier M, Grossfeld PD. Chromosomal microarray mapping suggests a role for BSX ...
    https://medlineplus.gov/genetics/condition/jacobsen-syndrome - Genetics
  9. MESP2 gene 
    ... N, Carlo SE, Torres J, Emans JB, Turnpenny PD, Pourquie O. Mutations in the MESP2 gene cause ... Citation on PubMed Sparrow DB, Chapman G, Turnpenny PD, Dunwoodie SL. Disruption of the somitic molecular clock ...
    https://medlineplus.gov/genetics/gene/mesp2 - Genetics
  10. DLL3 gene 
    ... ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD. Mutations in the human delta homologue, DLL3, cause ... on PubMed Central Sparrow DB, Chapman G, Turnpenny PD, Dunwoodie SL. Disruption of the somitic molecular clock ...
    https://medlineplus.gov/genetics/gene/dll3 - Genetics
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