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20 results
  1. ... click here . National Library of Medicine Genetics Home Reference Nephronophthisis American Kidney Fund 11921 Rockville Pike Suite 300 ... of Nephronophthisis Additional genes less commonly associated with nephronophthisis (see Table 2b ): ANKS6 CEP83 ... WDR19 ZNF423 References Literature Cited Adams M, Simms RJ, Abdelhamed Z, ...
  2. ... 14; NPHP14 NEPHRONOPHTHISIS 18; NPHP18 NEPHRONOPHTHISIS 12; NPHP12 NEPHRONOPHTHISIS 9; NPHP9 Scientific Articles on PubMed PubMed References Benzing T, Schermer B. Clinical spectrum and pathogenesis ...
  3. ... JOUBERT SYNDROME 22; JBTS22 JOUBERT SYNDROME 18; JBTS18 NEPHRONOPHTHISIS 14; NPHP14 JOUBERT SYNDROME 14; JBTS14 Scientific Articles on PubMed PubMed References Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome ...
  4. ... Gene JBTS4 juvenile nephronophthisis 1 protein nephrocystin-1 nephronophthisis 1 (juvenile) NPH1 SLSN1 ... References Fliegauf M, Horvath J, von Schnakenburg C, Olbrich ...
  5. ... SYNDROME 7; SLSN7 Scientific Articles on PubMed PubMed References Caridi G, Murer L, Bellantuono R, Sorino P, Caringella DA, Gusmano R, Ghiggeri GM. Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 ...
  6. ... Fibronectin glomerulopathy: MedlinePlus Genetics (National Library of Medicine) ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  7. ... type 1: MedlinePlus Genetics (National Library of Medicine) ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  8. ... in individuals of Cree and/or Ojibway descent. ... M. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and ...
  9. ... Asphyxiating thoracic dystrophy More About This Health Condition Nephronophthisis MedlinePlus Genetics provides information about Nephronophthisis More About ...
  10. ... WITHOUT POLYDACTYLY; SRTD9 Scientific Articles on PubMed ... syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses. J Craniofac ...
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