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Results 1 - 10 of 18 for AM 114
  1. 22q13.3 deletion syndrome 
    ... PubMed Manning MA, Cassidy SB, Clericuzio C, Cherry AM, Schwartz S, Hudgins L, Enns GM, Hoyme HE. Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. Pediatrics. 2004 Aug;114(2):451-7. doi: 10.1542/peds.114. ...
    https://medlineplus.gov/genetics/condition/22q133-deletion-syndrome - Genetics
  2. CLN2 disease 
    ... Pearce DA, Dodelson de Kremer R, Oller-Ramirez AM, Noher de Halac I. Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. Gene. 2013 Mar 1;516(1):114-21. doi: 10.1016/j.gene.2012.12. ...
    https://medlineplus.gov/genetics/condition/cln2-disease - Genetics
  3. Dentinogenesis imperfecta 
    ... Acevedo AC. Molecular basis of human dentin diseases. Am J Med Genet A. 2006 ... imperfecta type II. Hum Genet. 2004 Apr;114(5):491-8. doi: 10.1007/s00439-004- ...
    https://medlineplus.gov/genetics/condition/dentinogenesis-imperfecta - Genetics
  4. Lymphangioleiomyomatosis 
    ... and potential treatments. Pharmacol Ther. 2016 Feb;158:114-24. doi: ... Taveira-DaSilva AM, Pacheco-Rodriguez G, Moss J. The natural history ...
    https://medlineplus.gov/genetics/condition/lymphangioleiomyomatosis - Genetics
  5. Pontocerebellar hypoplasia 
    ... 2: a neuropathological update. Acta Neuropathol. 2007 Oct;114(4):373-86. doi: ... F, Mezzano P, Politi MR, Laverda AM, Zara F, Pavone L, Simonati A, Leuzzi V, ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
  6. Essential thrombocythemia 
    ... strong amino acid polarity. Blood. 2009 Oct 8;114(15):3325-8. doi: 10.1182/blood-2008- ... in familial myeloproliferative neoplasms. Blood. 2009 Aug 20;114(8):1628-32. doi: 10.1182/blood-2009- ...
    https://medlineplus.gov/genetics/condition/essential-thrombocythemia - Genetics
  7. Pseudoxanthoma elasticum 
    ... 34(9):1985-9. doi: 10.1161/ATVBAHA.114.304017. Epub 2014 Jun 26. Citation on PubMed ... of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet. 2001 Oct;69(4):749- ...
    https://medlineplus.gov/genetics/condition/pseudoxanthoma-elasticum - Genetics
  8. Intestinal pseudo-obstruction 
    ... Acad Sci U S A. 2017 Mar 28;114(13):E2739-E2747. doi: 10.1073/pnas.1620507114. ... FLNA mutations and x-linked intestinal pseudo-obstruction. Am J Surg Pathol. 2010 Oct;34(10):1528- ...
    https://medlineplus.gov/.../condition/intestinal-pseudo-obstruction - Genetics
  9. Atypical hemolytic-uremic syndrome 
    ... and what is new. Nephron Clin Pract. 2010;114(4):c219-35. doi: 10.1159/000276545. Epub ... Noris M, Remuzzi G. Hemolytic uremic syndrome. J Am Soc Nephrol. 2005 Apr;16(4):1035-50. ...
    https://medlineplus.gov/.../atypical-hemolytic-uremic-syndrome - Genetics
  10. Saethre-Chotzen syndrome 
    ... for TWIST mutation screening. Hum Genet. 2003 Dec;114(1):68-76. doi: 10.1007/s00439-003- ... analysis of patients with the Saethre-Chotzen phenotype. Am J Med Genet. 2002 Jun 15;110(2): ...
    https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome - Genetics
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