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  1. Resources for Genetics Professionals — Genes with Highly Homologous Gene Family Members or a Pseudogene(s) - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535152
    ... 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. Autosomal Dominant Tubulointerstitial Kidney Disease – REN - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK53700
    ... 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. Neuroferritinopathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1141
    ... 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. GAN-Related Neurodegeneration - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1136
    ... 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 ...
  5. GRIN2A-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK385627
    ... 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 ...
  6. KCNQ3-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK201978
    ... PMC free article : PMC4930090 ] [ PubMed : 26350515 ] Brown ... family. Nature Genet. 1998;18:53-5. [ PubMed : 9425900 ] ...
  7. Shwachman-Diamond Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1756
    ... current naming conventions 2. Likely the consequence of gene conversion with ... Myers, MD (2014-present) Adam Nelson, MBBS (2018-present) Johanna M Rommens, PhD; ...
  8. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... gene-summary ><gene-symbol >ADAMTS10</gene-symbol><name >ADAM ... part of a family of metalloproteases, which are zinc-containing enzymes that ...
  9. SLC17A5 gene 
    https://medlineplus.gov/genetics/gene/slc17a5
    ... member 5 Tests of SLC17A5 PubMed SOLUTE CARRIER FAMILY 17 (ACIDIC SUGAR TRANSPORTER), MEMBER 5; SLC17A5 NCBI Gene ClinVar Adams D, Wasserstein M. Free Sialic Acid Storage Disorders. ...
  10. Shashi-Pena Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK609017
    ... BioProject BioSample Books ClinVar Conserved ... Bookshelf. A service of the National Library of Medicine, National Institutes of Health. Adam MP, Feldman J, Mirzaa GM, et al., editors. ...
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