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  1. ... with no history of the disorder in their family. When caused by mutations in the DOCK6 or EOGT gene, Adams-Oliver syndrome is inherited in an autosomal recessive ...
  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. ... Sikora J, Zivný 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 ...
  4. ... Sikora J, Zivný 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 ...
  5. ... Raygada MJ, Kozupa A, Merino MJ, Makey D, Adams KT, Venisse A, Gimenez-Roqueplo AP, Pacak K. Penetrance and clinical ... CA. New genes and/or molecular pathways associated with adrenal hyperplasias ...
  6. ... 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 ...
  7. ... OMIM ALPHA-L-IDURONIDASE Research Resources ClinVar NCBI Gene References Beesley CE, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, Winchester BG. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel ...
  8. ... A new member of the transferrin receptor-like family. J Biol Chem. ... sequencing gene panel. Eur J Haematol. 2017; 98 :228–34. [ ...
  9. ... Ptacek LJ. A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann Neurol. 2002; 52 :654–7. [ PubMed : 12402266 ] Pearsall N, Bhattacharya G, Wisecarver J, Adams J, Cosgrove D, Kimberling W. Usherin expression is ...
  10. ... of Genes and Diseases from OMIM SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 2 Research Resources ClinVar NCBI Gene References Cali E, Dominik N, Manole A, Houlden H. Riboflavin Transporter Deficiency. 2015 Jun 11 [updated 2021 Apr 8]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean ...
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