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List of works by Yoshikazu Kuroki

Brain MRI findings of older patients with Pallister-Killian syndrome

scientific article published on 20 June 2005

Ehlers‐Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene ⬇️

scientific article published on December 1, 2012

Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome

scientific article published on 13 April 2005

Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy

scientific article published in August 2003

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome

scientific article

Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma)

No sex differences in 18 trisomy births in the Kanagawa Birth Defects Monitoring Program

scientific article published on 01 June 2004

On the Ring 13 Chromosome in a Malformed Infant with Special Regard to the Break Point

scholarly article

Paternal UPD14 is responsible for a distinctive malformation complex

scientific article published on 01 July 2002

Premature thelarche in Rubinstein-Taybi syndrome

scientific article published on 01 April 2002

Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1).

scientific article

Trends in occurrence of twin births in Japan

scientific article published on 21 November 2011

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome

scientific article published on 17 August 2020

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