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457 results

  1. TEK-Related Venous Malformations - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1967
    ... posted live 17 January 2008 (mv) Original submission References Literature Cited Adams DM, Trenor CC 3rd, Hammill ...
  2. MELAS - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1233
    ... Review posted live September 2000 (sdm) Original submission References Literature Cited Abu-Amero KK, Al-Dhalaan H, ...
  3. Hereditary Distal Renal Tubular Acidosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK547595
    ... posted live 15 January 2019 (rta) Original submission References Literature Cited Acquadro M, Marrel A, Manso-Silván ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  4. HEXA Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1218
    ... public domain in the United States of America. References Published Guidelines / Consensus Statements NTSAD. Position Statement 2019 ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  5. Familial Paroxysmal Nonkinesigenic Dyskinesia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1221
    ... the alpha helix structure [ Rainier et al 2004 ]. References Literature Cited Bhatia KP. The paroxysmal dyskinesias. J ... Differential Diagnosis Management Genetic Counseling Resources Molecular Genetics References Chapter Notes Bulk Download Bulk download GeneReviews data ...
  6. Fibrodysplasia Ossificans Progressiva - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK558090
    ... posted live 19 February 2020 (la) Original submission References Published Guidelines / Consensus Statements Kaplan FS, Al Mukaddam ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  7. Hereditary Neuropathy with Liability to Pressure Palsies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1392
    ... posted live 6 January 1998 (tb) Original submission References Published Guidelines / Consensus Statements Committee on Bioethics, Committee ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  8. Polycystic Kidney Disease, Autosomal Dominant - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1246
    ... posted live 22 August 2001 (ph) Original submission References Published Guidelines / Consensus Statements Chapman AB, Devuyst O, ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  9. NR0B1-Related Adrenal Hypoplasia Congenita - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1431
    ... or to affect nuclear localization of the protein. References Literature Cited Achermann JC, Ito M, Silverman BL, ... Differential Diagnosis Management Genetic Counseling Resources Molecular Genetics References Chapter Notes Bulk Download Bulk download GeneReviews data ...
  10. Myotonia Congenita - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1355
    ... posted live 14 December 2004 (md) Original submission References Published Guidelines / Consensus Statements Stunnenberg BC, LoRusso S, ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
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