Daisuke Fukushi
Kasugai, Japan
Last Updated: 09/26/2026
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Found 12 publications
R3HDM1 haploinsufficiency is associated with mild intellectual disability.
Journal: American journal of medical genetics. Part A
Published: November 04, 2020
Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation.
Journal: Human mutation
Published: January 07, 2020
Simple and large-scale chromosomal engineering of mouse zygotes via in vitro and in vivo electroporation.
Journal: Scientific reports
Published: February 04, 2019
Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.
Journal: Gene
Published: November 15, 2017
Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.
Journal: Human mutation
Published: January 11, 2017
Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.
Journal: American journal of medical genetics. Part A
Published: November 14, 2016
Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.
Journal: Journal of medical genetics
Published: May 10, 2015
Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis.
Journal: Molecular genetics and metabolism reports
Published: October 03, 2014
Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
Journal: Nucleosides, nucleotides & nucleic acids
Published: June 19, 2014
Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2.
Journal: American journal of medical genetics. Part A
Published: July 30, 2013
Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
Journal: American journal of medical genetics. Part A
Published: July 18, 2013
Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.
Journal: Nucleosides, nucleotides & nucleic acids
Published: December 03, 2011
Showing 1-12 of 12
Last Updated: 09/26/2026