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Results 1 - 10 of 34 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. Chromosome 22 
    ... 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/chromosome/22 - Genetics
  3. FECH gene 
    ... Citation on PubMed Gouya L, Puy H, Robreau AM, Lyoumi S, Lamoril J, Da Silva V, Grandchamp B, Deybach JC. Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. Hum Genet. 2004 Feb;114(3):256-62. doi: 10.1007/s00439-003- ...
    https://medlineplus.gov/genetics/gene/fech - Genetics
  4. CPOX gene 
    ... Citation on PubMed Gouya L, Puy H, Robreau AM, Lyoumi S, Lamoril J, Da Silva V, Grandchamp B, Deybach JC. Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. Hum Genet. 2004 Feb;114(3):256-62. doi: 10.1007/s00439-003- ...
    https://medlineplus.gov/genetics/gene/cpox - Genetics
  5. 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
  6. TPP1 gene 
    ... 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/gene/tpp1 - Genetics
  7. WNK1 gene 
    ... 64(5):1047-53. doi: 10.1161/HYPERTENSIONAHA.114.04036. Epub 2014 Aug 11. Citation on PubMed Gamba G. Regulation of the renal Na+-Cl- cotransporter by phosphorylation and ubiquitylation. Am J Physiol Renal Physiol. 2012 Dec 15;303( ...
    https://medlineplus.gov/genetics/gene/wnk1 - Genetics
  8. DSPP gene 
    ... 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/gene/dspp - Genetics
  9. 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
  10. Chromosome 8 
    ... Wilson R, Tsai AC. Revisiting recombinant 8 syndrome. Am J Med Genet A. 2011 ... Cytogenet. 2005 Jan 15;156(2):114-21. doi: 10.1016/j.cancergencyto.2004.04. ...
    https://medlineplus.gov/genetics/chromosome/8 - Genetics
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