Zespół Johanson-Blizzarda (Polish Wikipedia)

Analysis of information sources in references of the Wikipedia article "Zespół Johanson-Blizzarda" in Polish language version.

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doi.org

  • CS. Hwang, M. Sukalo, O. Batygin, MC. Addor i inni. Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.. „PLoS One”. 6 (9), s. e24925, 2011. DOI: 10.1371/journal.pone.0024925. PMID: 21931868. (ang.). 

nih.gov

ncbi.nlm.nih.gov

  • CS. Hwang, M. Sukalo, O. Batygin, MC. Addor i inni. Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.. „PLoS One”. 6 (9), s. e24925, 2011. DOI: 10.1371/journal.pone.0024925. PMID: 21931868. (ang.). 
  • A. Johanson, R. Blizzard. A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption.. „J Pediatr”. 79 (6), s. 982-7, 1971. PMID: 5171616. (ang.). 

rarediseases.info.nih.gov

omim.org

orpha.net