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List of works by Kenjiro Kosaki

Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures

scientific article published on 31 December 2020

Case of dominant dystrophic epidermolysis bullosa with amniotic band syndrome

scientific article published on 30 April 2016

Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes

scientific article published on 05 May 2020

Heterozygous nonsense variant of CHD8 in a patient with forme-fruste Marfan syndrome and intellectual disability

scientific article published on 20 September 2020

Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta

scientific article published on 11 November 2019

Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript

scientific article published on 30 September 2020

Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis

scientific article

Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients

scientific article published on 11 August 2020

Role of chimeric transcript formation in the pathogenesis of birth defects

scientific article published on 28 October 2020

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