Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 71 for nps
  1. NPC2 gene 
    ... protein HE1 MGC1333 Niemann-Pick disease, type C2 NP-C2 NPC2_HUMAN Tests of NPC2 PubMed NPC ... MT, Pineda M. Disease and patient characteristics in NP-C patients: findings from an international disease registry. ...
    https://medlineplus.gov/genetics/gene/npc2 - Genetics
  2. PNP gene 
    ... deficiency. More About This Health Condition inosine phosphorylase NP PNPH_HUMAN PRO1837 PUNP purine-nucleoside:orthophosphate ribosyltransferase ...
    https://medlineplus.gov/genetics/gene/pnp - Genetics
  3. Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis 
    ... CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS; POIKTMP PubMed Khumalo NP, Pillay K, Beighton P, Wainwright H, Walker B, ... S, Shaboodien G, Besnard T, Barbarot S, Khumalo NP, Mayosi BM, Bezieau S. CUGC for hereditary fibrosing ...
    https://medlineplus.gov/...tractures-myopathy-and-pulmonary-fibrosis - Genetics
  4. COL5A2 gene 
    ... NCBI Gene ClinVar Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, Francomano CA. ... J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, ...
    https://medlineplus.gov/genetics/gene/col5a2 - Genetics
  5. Niemann-Pick disease 
    ... MT, Pineda M. Disease and patient characteristics in NP-C patients: findings from an international disease registry. ... W, Liscum L. The pathophysiology and mechanisms of NP-C disease. Biochim Biophys Acta. 2004 Oct 11; ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  6. FAM111B gene 
    ... K, Thauvin C, Ulane C, Watson RM, Khumalo NP, Mayosi BM, Barbarot S, Bezieau S. Expanding the ... S, Kury S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, Bodak N, Cormier-Daire V, ...
    https://medlineplus.gov/genetics/gene/fam111b - Genetics
  7. Ehlers-Danlos syndrome 
    ... Citation on PubMed Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, Francomano CA. ... J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, ...
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome -
  8. Epidermolytic hyperkeratosis 
    ... of the body. People with the other type, NPS-type, do not have extensive palmoplantar hyperkeratosis but ... and KRT10 gene mutations are usually associated with NPS-type. The keratin 1 protein is present in ...
    https://medlineplus.gov/.../condition/epidermolytic-hyperkeratosis - Genetics
  9. Lafora progressive myoclonus epilepsy 
    ... S, Ianzano L, Yahyaoui M, Mikati MA, Quinn NP, Franceschetti S, Zara F, Minassian BA. Genetic diagnosis ... Neurology. 2007 Jun 12;68(24):2153. Quinn, NP [added]. Citation on PubMed Singh S, Ganesh S. ...
    https://medlineplus.gov/.../lafora-progressive-myoclonus-epilepsy - Genetics
  10. Chromosome 9 
    ... D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, ... Le Merrer M, Vekemans M, Munnich A, Carter NP, Cormier-Daire V, Colleaux L. Interstitial 9q22.3 ...
    https://medlineplus.gov/genetics/chromosome/9 - Genetics
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · next