Takayuki Yokoi

6PUBLICATIONS
7CO-AUTHORS
Epidemiological modellingNeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseases
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Publications (6)

|Dec 28, 2020
Siblings with vascular Ehlers-Danlos syndrome inherited via maternal mosaicism.

Takayuki Yokoi, Yumi Enomoto, Yoshinori Tsurusaki

|Sep 14, 2020
CantĂș syndrome with novel pathogenic variant in nucleotide-binding domain 1 of ABCC9.

Takayuki Yokoi, Yumi Enomoto, Yoshinori Tsurusaki

|Aug 18, 2020
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.

Hiroaki Murakami, Yoshinori Tsurusaki, Keisuke Enomoto

|Jan 20, 2020
An efficient genetic test flow for multiple congenital anomalies and intellectual disability.

Takayuki Yokoi, Yumi Enomoto, Yoshinori Tsurusaki

|Nov 15, 2019
Somatic mosaicism of a heterogeneous mutation of ACTA1 in nemaline myopathy.

Takayuki Yokoi, Kenshi Sei, Yumi Enomoto

|Jun 14, 2018
17q21.32-q22 Deletion in a girl with osteogenesis imperfecta, tricho-dento-osseous syndrome, and intellectual disability.

Takayuki Yokoi, Toshiyuki Saito, Jun-Ichi Nagai

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