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4,534 results
  1. ... Resources for Genetics Professionals — Genes with Highly Homologous Gene Family Members or a Pseudogene(s) 2018 Mar 8. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. ...
  2. ... Sikora J, Zivny J, Sovová J, Hart TC, Adams JN, Elleder M, Kapp K, Haws R, Cornell LD, Kmoch S, Hart PS. Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. Clin ...
  3. ... Ohta K, Shiozawa Z. Neuroferritinopathy in a Japanese family with a duplication in the ferritin light chain gene. Neurology. 2008; 70 :1493–4. [ PubMed : 18413574 ] Ondo WG, Adam OR, Jankovic J, Chinnery PF. Dramatic response of ...
  4. ... the supposed hereditary properties of Diseases, by Joseph Adams, M. D. &c. p. 66.) Cataract is frequently observed as a congenital disease in members of the same family; but in this case it is found not to appear in successive gene- rations as if it were at once connate ...
  5. ... Straussberg R. A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family. Eur J Paediatr Neurol. 2013; 17 :259–64. [ PubMed : 23332420 ] Adams J, Kelso R, Cooley L. The kelch repeat ...
  6. ... the 3’ end of the human 6-globin gene (Adams ef al., 1980; Kaufman ef al., 1980). This and several other somewhat divergent randomly selected members of the family were cloned from a human library. Portions of ...
  7. ... in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function. Hum Mol Genet. 2023;32:2857-71. [ PMC free article : PMC10508039 ] [ PubMed : 37369021 ] Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, Markello T, Golas G, Simeonov DR, Holloman ...
  8. ... PMC free article : PMC4930090 ] [ PubMed : 26350515 ] Brown ... family. Nature Genet. 1998;18:53-5. [ PubMed : 9425900 ] ...
  9. ... the supposed hereditary properties of Diseases, by Joseph Adams, M. D. <&c. p. 66.) Cataract is frequently observed as a congenital disease in members of the same family; but in this case it is found not to appear in successive gene- rations as if it were at once connate ...
  10. NLM Digital Collections - LINE-1: A Human Transposable Element 
    Publication: Elsevier Science Publishers, 15 December 1993
    ... the absence of these integral insertional mutagens. REFERENCES Adams, J.W., Kaufman, R.E., Kretschmer, P.J., Harrison, M. and Nienhuis, A.W.: A family of long reiterated DNA sequences, one copy of which is next to the human beta globin gene. Nucleic Acids Res. 8 (1980) 6113-6128. Becker, ...
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