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Maja Sukalo Selected Research

Johanson Blizzard syndrome

11/2017Expanding 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.
1/2011Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.

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Maja Sukalo Research Topics

Disease

2Johanson Blizzard syndrome
11/2017 - 01/2011
1Adams Oliver syndrome
08/2015
1Thrombocytopenia (Thrombopenia)
10/2011
1Anemia
10/2011

Drug/Important Bio-Agent (IBA)

1Notch1 ReceptorIBA
08/2015
1Ligases (Synthetase)IBA
01/2011
1UbiquitinIBA
01/2011

Therapy/Procedure

1Ligation
11/2017
1Blood Transfusion (Blood Transfusions)
10/2011