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15 results
  1. Autosomal Recessive Polycystic Kidney Disease – PKHD1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1326
    ... Adeva et al 2006 , Burgmaier et al 2019 ]. Caroli disease, non-obstructed dilatation of the intrahepatic bile ducts ... Alliance United Kingdom ciliopathyalliance.org European Rare Kidney Disease Reference Network (ERKNet) Phone: 49 0 6221 56-34191 ...
  2. Cranioectodermal Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154653
    ... variants in WDR19 are also associated with CED.) Caroli disease (OMIM 600643 ) is characterized by polycystic liver disease ... Revision: added IFT140 -related autosomal dominant polycystic kidney disease to Genetically Related ... References Literature Cited Ackah RL, Yoeli D, Kueht M, ...
  3. Nephronophthisis-Related Ciliopathies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... Alliance United Kingdom ciliopathyalliance.org European Rare Kidney Disease Reference Network (ERKNet) Phone: 49 0 6221 56-34191 ... Congenital Hepatic Fibrosis Overview ─ RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. ... 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation ...
  4. Polycystic Kidney Disease, Autosomal Dominant - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1246
    ... Alliance United Kingdom ciliopathyalliance.org European Rare Kidney Disease Reference Network (ERKNet) Phone: 49 0 6221 56-34191 ... Martinetti D, Carrara F, Rubis N, Prandini S, Caroli A, Sharma K, Antiga L, ... disease progression in patients with autosomal dominant polycystic kidney ...
  5. Excluded studies - Dementia - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK536486
    ... treatment of dementia: 6. Management of severe Alzheimer disease. [References], Canadian Medical Association Journal, 179, 1279-1287, 2008 ... of Yokukansan for neuropsychiatric symptoms in Alzheimer’s disease Duplicate reference Gaugler (2015) Effects of the Minnesota Adaptation of ...
  6. Excluded References - Diagnosis and Treatment of Clinical Alzheimer’s-Type Dementia: A Systematic Review - NCBI ... 
    https://www.ncbi.nlm.nih.gov/books/NBK556577
    ... al. Disease state fingerprint in frontotemporal degeneration with reference to Alzheimer’s disease and mild cognitive impairment. Journal of Alzheimer’s ...
  7. Glycogen Storage Disease Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1312
    ... in 20 adult Japanese patients with glycogen storage disease type 1a with reference to hepatic tumors. J Gastroenterol Hepatol. 2001;16: ... PubMed : 30037503 ] Stroppiano M, Regis S, DiRocco M, ... 53 Italian patients with glycogen storage disease type Ia. J Inherit Metab Dis. 1999;22: ...
  8. Excluded studies - Gallstone Disease - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK327515
    ... bile duct stones before laparoscopic cholecystectomy. Hepatobiliary & Pancreatic Diseases International 2003;2(4):576-80. Unacceptable reference standard used in study 129. Kiewiet,J.J., ...
  9. Pediatric Genetic Cholestatic Liver Disease Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK584020
    ... Identify the Cause of a Genetic Cholestatic Liver Disease in a Proband Genetic Counseling Resources Management Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  10. Excluded Studies - Diagnosis and Management of Infantile Hemangioma - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK344066
    ... of hemangioblastomas of the central nervous system with reference to von Hippel-Lindau (VHL) disease. J Clin Neurosci. 2011 Jul; 18 (7):939– ...
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