Search filters

List of works by Takayuki Yokoi

17q21.32-q22 Deletion in a girl with osteogenesis imperfecta, tricho-dento-osseous syndrome, and intellectual disability

scientific article published on 04 July 2018

An efficient genetic test flow for multiple congenital anomaly and intellectual disability

scientific article published on 18 January 2020

Cantú syndrome with novel pathogenic variant in nucleotide-binding domain 1 of ABCC9

scientific article published on 14 September 2020

Siblings with vascular Ehlers-Danlos syndrome inherited via maternal mosaicism

scientific article published on 27 December 2020

Somatic mosaicism of a heterogeneous mutation of ACTA1 in nemaline myopathy

scientific article published on 13 November 2019

Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon

scientific article published on 20 February 2019

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

Paulina is supported by:

About Paulina

Help