Takayuki Yokoi

发表

Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome

S. Mizuno, K. Kurosawa, Hiroko Shimbo, 2017, Molecular genetics & genomic medicine.

The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.

Y. Eto, K. Kurosawa, Takayuki Yokoi, 2017, Molecular genetics and metabolism.

Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita

Y. Tsurusaki, K. Kurosawa, Takayuki Yokoi, 2022, Human Genome Variation.

Clinical and genetic study of Japanese patients with type 3 Gaucher disease.

Y. Eto, Takayuki Yokoi, H. Ida, 2009, Molecular genetics and metabolism.

Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy

Y. Tsurusaki, K. Kurosawa, Takayuki Yokoi, 2018, Human Genome Variation.

Non-myeloablative preconditioning with ACK2 (anti-c-kit antibody) is efficient in bone marrow transplantation for murine models of mucopolysaccharidosis type II.

H. Nakauchi, Taku Sato, Kentaro Yokoi, 2016, Molecular genetics and metabolism.

Minimum requirement of donor cells to reduce the glycolipid storage following bone marrow transplantation in a murine model of Fabry disease

H. Nakauchi, Y. Eto, T. Kitagawa, 2011, The journal of gene medicine.

Somatic mosaicism of a heterogeneous mutation of ACTA1 in nemaline myopathy

K. Kurosawa, Takayuki Yokoi, Yumi Enomoto, 2019, Pediatrics international : official journal of the Japan Pediatric Society.

Acute lymphoblastic leukemia in a male with Simpson–Golabi–Behmel syndrome

K. Kurosawa, Takayuki Yokoi, J. Nagai, 2018, American journal of medical genetics. Part A.

Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing

Y. Tsurusaki, J. Mitsui, Y. Kuroda, 2021, Clinical genetics.

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

K. Kosaki, Y. Kuroki, Y. Tsurusaki, 2020, American journal of medical genetics. Part A.

Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction

Y. Tsurusaki, K. Kurosawa, Takayuki Yokoi, 2018, Human Genome Variation.

CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.

S. Tsuji, S. Morishita, Y. Tsurusaki, 2018, European journal of medical genetics.

Analysis of Very Low Birth Weight Infants Born at The Jikei University School of Medicine Women's and Children's Medical Center : Focus on Patent Ductus Arteriosus (Original)

Takayuki Yokoi, Tatsuo Nagashima, Masahisa Kobayashi, 2007 .

Akt inactivation induces endoplasmic reticulum stress-independent autophagy in fibroblasts from patients with Pompe disease.

Y. Eto, Takayuki Yokoi, Hiroshi Kobayashi, 2012, Molecular genetics and metabolism.

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

Y. Tsurusaki, K. Kurosawa, Takayuki Yokoi, 2020, Pediatrics international : official journal of the Japan Pediatric Society.

Y. Tsurusaki, Y. Kuroda, K. Kurosawa, 2019, Brain and Development.

Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder

Kenji Kurosawa, N. Higurashi, K. Kurosawa, 2020, Human Genome Variation.

Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction

Y. Tsurusaki, K. Kurosawa, Takayuki Yokoi, 2018, Human Genome Variation.

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

Y. Tsurusaki, K. Kurosawa, Takayuki Yokoi, 2020, Pediatrics international : official journal of the Japan Pediatric Society.

A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing

K. Kosaki, K. Kurosawa, Takayuki Yokoi, 2020, Human Genome Variation.

A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing

K. Kosaki, K. Kurosawa, Takayuki Yokoi, 2020, Human Genome Variation.

Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder

N. Higurashi, K. Kurosawa, Takayuki Yokoi, 2020, Human Genome Variation.

Mosaicism of a Truncating Variant of CASK Causes Congenital Heart Disease and Neurodevelopmental Disorder

K. Kurosawa, Takayuki Yokoi, Kazumi Ida, 2022, Molecular Syndromology.

Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy

Y. Tsurusaki, K. Kurosawa, Takayuki Yokoi, 2018, Human Genome Variation.

Minimum requirement of donor cells to reduce the glycolipid storage following bone marrow transplantation in a murine model of Fabry disease

H. Nakauchi, Y. Eto, T. Kitagawa, 2011, The journal of gene medicine.