- ... 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. ...
- ... 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 ...
- ... 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 ...
- NLM Digital Collections - The cyclopaedia of practical medicine: comprising treatises on the nature and treatment of ...Publication: Philadelphia : Blanchard and Lea, 1849-59... 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 ...
- ... 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 ...
- NLM Digital Collections - Highly Repeated Sequences in Mammalian GenomesPublication: The Academic Press, 1982... 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 ...
- ... 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 ...
- ... PMC free article : PMC4930090 ] [ PubMed : 26350515 ] Brown ... family. Nature Genet. 1998;18:53-5. [ PubMed : 9425900 ] ...
- NLM Digital Collections - The cyclopaedia of practical medicine: comprising treatises on the nature and treatment of ...Publication: Philadelphia : Lea and Blanchard, 1845... 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 ...
- NLM Digital Collections - LINE-1: A Human Transposable ElementPublication: 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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