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331 results

  1. Ellis-van Creveld Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK596643
    ... posted live 5 July 2023 (jds) Original submission References Literature Cited Aubert-Mucca M, Huber C, Baujat ... Noreuil K, Kukolich MK, Adam MP, Westra SJ, Arts HH. Sensenbrenner syndrome (cranioectodermal dysplasia): clinical and molecular ...
  2. Allan-Herndon-Dudley Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK26373
    ... posted live 6 July 2009 (mad) Original submission References Literature Cited Anık A, Kersseboom S, Demir K, ... Canalli MH, Lundgren J, McEntagart ME, Hopper N, Arts WF, Visser TJ. Functional analysis of monocarboxylate transporter ...
  3. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... posted live 27 January 2003 (mp) Original submission References Literature Cited Akcan N, Bas F, Poyrazoglu S, ... 612-20. [ PMC free article : PMC6174286 ] [ PubMed : 30269812 ] Arts HH, Doherty D, van Beersum SE, Parisi MA, ...
  4. Pitt-Hopkins Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK100240
    ... posted live 4 May 2012 (hha) Original submission References Literature Cited Allen RP, Picchietti DL, Auerbach M, ... van Hulst K, Kok SE, Delsing CP, Scheffer ART, van den Hoogen FJA. Surgery versus botulinum neurotoxin ...
  5. Pulmonary Fibrosis Predisposition Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1230
    ... posted live 8 April 2004 (ds) Original submission References Literature Cited Alder JK, Cogan JD, Brown AF, ... and Familial Pulmonary Fibrosis: A State-of-the-Art Review. [Diagnostics (Basel). 2022] Review The Genetic and ...
  6. Knowledge and Access to Information on Recruitment of Underrepresented Populations to Cancer Clinical Trials: Summary - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK11889
    ... http://www.ahrq.gov/clinic/epcsums/recruitsum.htm References 1. Charlson ME, Horwitz RI. Applying results of ... et al. Assuring access to state-of-the-art care for U.S. minority populations: the first ...
  7. RAB18 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK475670
    ... residues are functionally important [ Liegel et al 2013 ]. References Literature Cited Abdel-Salam GM, Hassan NA, Kayed ... Mannens MM, Swertz MA, Alizadeh BZ, Van Ravenswaaij-Arts CM, Sinke RJ, Sikkema-Raddatz B. Whole-exome ...
  8. Hereditary Paraganglioma-Pheochromocytoma Syndromes - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1548
    ... Posted live 14 November 2007 (rdk) Original submission References Published Guidelines / Consensus Statements Amar L, Pacak K, ... Else T, Marvin ML, Everett JN, Gruber SB, Arts HA, Stoffel EM, Auchus RJ, Raymond VM. The ...
  9. Brugada Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1517
    ... posted live 11 March 2004 (rb) Original submission References Literature Cited Al-Khatib SM. Risk stratification of ... status of Brugada syndrome: JACC state-of-the-art review. J Am Coll Cardiol. 2018; 72 :1046– ...
  10. Diastrophic Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1350
    ... posted live 17 February 2004 (asf) Original submission References Literature Cited Barbosa M, Sousa AB, Medeira A, ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
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