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List of works by Volkan Okur

Biallelic variants in in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature

scientific article published in October 2018

Clinical and genetic characterization of individuals with predicted deleterious PHIP variants

scientific article published on 01 August 2019

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

scientific article published on 5 April 2016

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

scientific article published on 18 February 2019

HIF1A as a major vascular endothelial growth factor regulator: do its polymorphisms have an association with age-related macular degeneration?

scientific article published on 19 August 2014

Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay.

scientific article published on 3 June 2019

Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature.

scientific article

Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia

scientific article published on 25 February 2014

Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome

scientific article published on 31 July 2018

Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder

scientific article published on 17 January 2019

The impact of hereditary cancer gene panels on clinical care and lessons learned

scientific article published on 21 November 2017

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