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Results 1 - 10 of 98 for cls
  1. Coffin-Lowry syndrome 
    ... have other family members with Coffin-Lowry syndrome. CLS Mental retardation with osteocartilaginous abnormalities Genetic Testing Registry: ... Rare Disorders (NORD) ClinicalTrials.gov COFFIN-LOWRY SYNDROME; CLS PubMed Hanauer A, Young ID. Coffin-Lowry syndrome: ...
    https://medlineplus.gov/genetics/condition/coffin-lowry-syndrome - Genetics
  2. Nearsightedness 
    ... T, Mihailov E, Metspalu A, Wedenoja J, Simpson CL, Wojciechowski R, Hohn R, Mirshahi A, Zeller T, ... 6736(12)60272-4. Citation on PubMed Simpson CL, Wojciechowski R, Oexle K, Murgia F, Portas L, ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics
  3. MPV17-related hepatocerebral mitochondrial DNA depletion syndrome 
    ... Epub 2009 Oct 13. Citation on PubMed Karadimas CL, Vu TH, Holve SA, Chronopoulou P, Quinzii C, ... OH, Tsiakas K, Schaefer H, Ding X, Karadimas CL, Shanske S, Ganesh J, Di Mauro S, Zeviani ...
    https://medlineplus.gov/...bral-mitochondrial-dna-depletion-syndrome - Genetics
  4. Pseudohypoaldosteronism type 2 
    ... L, Meermeier NP, Rogers S, Jeunemaitre X, Yang CL, Ellison DH, Gamba G, Hadchouel J. WNK-SPAK- ... revisited: WNK1 stimulates the activity of the Na-Cl cotransporter via SPAK, an effect antagonized by WNK4. ...
    https://medlineplus.gov/.../condition/pseudohypoaldosteronism-type-2 - Genetics
  5. Microcephaly-capillary malformation syndrome 
    ... L, Reichard RR, Boccuto L, Schwartz CE, Clericuzio CL. A new syndrome with multiple capillary malformations, intractable ... D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM Jr, Morris-Rosendahl DJ, Polster T, ...
    https://medlineplus.gov/...rocephaly-capillary-malformation-syndrome - Genetics
  6. Andermann syndrome 
    ... for making a protein called KCC3, a K-Cl co-transporter. This protein is involved in moving charged atoms (ions) of potassium (K) and chlorine (Cl) across the cell membrane. The positively charged potassium ...
    https://medlineplus.gov/genetics/condition/andermann-syndrome - Genetics
  7. IRAK-4 deficiency 
    ... Rare Disorders (NORD) IMMUNODEFICIENCY 67; IMD67 PubMed Ku CL, von Bernuth H, Picard C, Zhang SY, Chang ... Central Picard C, Puel A, Bonnet M, Ku CL, Bustamante J, Yang K, Soudais C, Dupuis S, ...
    https://medlineplus.gov/genetics/condition/irak-4-deficiency - Genetics
  8. 3MC syndrome 
    ... S. Structure and function of collectin liver 1 (CL-L1) and collectin 11 (CL-11, CL-K1). Immunobiology. 2012 Sep;217(9):851-63. ...
    https://medlineplus.gov/genetics/condition/3mc-syndrome - Genetics
  9. 17q12 deletion syndrome 
    ... SM, Levy RV, Turner S, Ledbetter DH, Martin CL. 17q12 Recurrent Deletion Syndrome. 2016 Dec 8 [updated ... S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH. Deletion 17q12 is a recurrent copy ...
    https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome - Genetics
  10. Type 2 diabetes 
    ... DW, Cho YS, Cox NJ, Cruz M, Hanis CL, Kooner J, Lee JY, Seielstad M, Teo YY, ... J, Duggirala R, Tai ES, McVean G, Hanis CL, Wilson JG, Seielstad M, Frayling TM, Meigs JB, ...
    https://medlineplus.gov/genetics/condition/type-2-diabetes - Genetics
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