Sindromul Hajdu–Cheney (Romanian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Sindromul Hajdu–Cheney" in Romanian language version.

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doi.org

  • Crifasi, P. A.; Patterson, M. C.; Bonde, D.; Michels, V. V. (). „Severe Hajdu-Cheney syndrome with upper airway obstruction”. American Journal of Medical Genetics. 70 (3): 261–266. doi:10.1002/(SICI)1096-8628(19970613)70:3<261::AID-AJMG9>3.0.CO;2-Z. PMID 9188663. 
  • „Hajdu--Cheney syndrome: evolution of phenotype and clinical problems”. Am. J. Med. Genet. 100 (4): 292–310. mai 2001. doi:10.1002/1096-8628(20010515)100:4<292::AID-AJMG1308>3.0.CO;2-4. PMID 11343321. 
  • A Simpson, Michael; Irving, Melita D; Asilmaz, Esra; Gray, Mary J; Dafou, Dimitra; Elmslie, Frances V; Mansour, Sahar; Holder, Sue E; Brain, Caroline E (). „Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss”. Nature Genetics. 43 (4): 303–305. doi:10.1038/ng.779. PMID 21378985. 
  • Isidor, Bertrand; Pierre Lindenbaum (). „Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis”. Nature Genetics. 43 (4): 306–308. doi:10.1038/ng.778. PMID 21378989. 
  • Majewski, J; Schwartzentruber, Jeremy A.; Caqueret, Aurore; Patry, Lysanne; Marcadier, Janet; Fryns, Jean-Pierre; Boycott, Kym M.; Ste-Marie, Louis-Georges; McKiernan, Fergus E. (). „Mutations in NOTCH2 in families with Hajdu-Cheney syndrome”. Hum Mutat. 32 (10): 1114–7. doi:10.1002/humu.21546. PMID 21681853. 

nih.gov

ncbi.nlm.nih.gov

  • Crifasi, P. A.; Patterson, M. C.; Bonde, D.; Michels, V. V. (). „Severe Hajdu-Cheney syndrome with upper airway obstruction”. American Journal of Medical Genetics. 70 (3): 261–266. doi:10.1002/(SICI)1096-8628(19970613)70:3<261::AID-AJMG9>3.0.CO;2-Z. PMID 9188663. 
  • „Hajdu--Cheney syndrome: evolution of phenotype and clinical problems”. Am. J. Med. Genet. 100 (4): 292–310. mai 2001. doi:10.1002/1096-8628(20010515)100:4<292::AID-AJMG1308>3.0.CO;2-4. PMID 11343321. 
  • A Simpson, Michael; Irving, Melita D; Asilmaz, Esra; Gray, Mary J; Dafou, Dimitra; Elmslie, Frances V; Mansour, Sahar; Holder, Sue E; Brain, Caroline E (). „Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss”. Nature Genetics. 43 (4): 303–305. doi:10.1038/ng.779. PMID 21378985. 
  • Isidor, Bertrand; Pierre Lindenbaum (). „Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis”. Nature Genetics. 43 (4): 306–308. doi:10.1038/ng.778. PMID 21378989. 
  • Majewski, J; Schwartzentruber, Jeremy A.; Caqueret, Aurore; Patry, Lysanne; Marcadier, Janet; Fryns, Jean-Pierre; Boycott, Kym M.; Ste-Marie, Louis-Georges; McKiernan, Fergus E. (). „Mutations in NOTCH2 in families with Hajdu-Cheney syndrome”. Hum Mutat. 32 (10): 1114–7. doi:10.1002/humu.21546. PMID 21681853. 

obolibrary.org

purl.obolibrary.org