Johanson–Blizzardin oireyhtymä (Finnish Wikipedia)

Analysis of information sources in references of the Wikipedia article "Johanson–Blizzardin oireyhtymä" in Finnish language version.

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1rarediseases.org

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nih.gov

ncbi.nlm.nih.gov

Sukalo M. ym.: Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe amplification analysis Mol Genet Genomic Med. 2017 Nov; 5(6): 774-780.. en
Santhosh BP, Jethmalani P.: Johanson-Blizzard syndrome: dental findings and management J Contemp Dent Pract. 2013 May 1;14(3):544-7. Viitattu 1.1.2018. en
UBR1 ubiquitin protein ligase E3 component n-recognin 1 National Center for Biotechnology Information, Gene. Viitattu 21.1.2018. en

orpha.net

Johanson-Blizzard syndrome Orphanet. Viitattu 27.12.2017. en

rarediseases.org

Johanson-Blizzard Syndrome National Organization for Rare Disorders. Viitattu 1.1.2018. en

wiley.com

onlinelibrary.wiley.com

Sukalo M. ym.: Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum Hum Mutat. 2014 May;35(5):521-31. doi: 10.1002/humu.22538. Epub 2014 Apr 9.. Viitattu 6.1.2018. en

wjgnet.com

Almashraki N. ym.: Johanson-Blizzard Syndrome World J Gastroenterol. 2011 Oct 7;17(37):4247-50. doi: 10.3748/wjg.v17.i37.4247. Viitattu 1.1.2018. en