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List of works by Maja Sukalo

Clinical utility gene card for: Johanson-Blizzard syndrome

scientific article published on 8 May 2013

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies

scientific article

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies

scientific article published on 21 April 2015

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

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

scientific article published on 31 July 2017

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

scientific article

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

scientific article

Johanson-Blizzard syndrome

scientific article 2011

Johanson-Blizzard syndrome: hepatic and hematological features with novel genotype

scientific article published on 20 September 2013

Mutations in the human UBR1 gene and the associated phenotypic spectrum

scientific article published on 09 April 2014

Oblique facial clefts in Johanson-Blizzard syndrome

Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation

scientific article published on 3 July 2015

Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome

scientific article

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