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List of works by Daisuke Fukushi

CHRONIS: an animal chromosome image database

scientific article published on 21 September 2005

Centrosome amplification is correlated with ploidy divergence, but not with MYCN amplification, in neuroblastoma tumors

scientific article published on 01 January 2009

Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation

scientific article published on 01 December 2010

Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis

scientific article published on 16 October 2014

Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation

scientific article published on 22 February 2018

Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter)

scientific article published on 10 August 2011

Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.

scientific article published on 9 June 2017

Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2

scientific article published on 29 January 2014

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

scientific journal article

Duplication of the paternal IGF2 allele in trisomy 11 and elevated expression levels of IGF2 mRNA in congenital mesoblastic nephroma of the cellular or mixed type

scientific article published on 01 October 2007

Effects of acetic acid treatment on plant chromosome structures analyzed by atomic force microscopy.

scientific article

Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.

scientific article published in January 2014

Imaging of chromosomes at nano-meter scale resolution using scanning near-field optical/atomic force microscopy.

scientific article published on December 2002

Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.

scientific article published in December 2011

Molecular cytogenetic analysis of the highly repetitive DNA in the genome of Apodemus argenteus, with comments on the phylogenetic relationships in the genus Apodemus.

scientific article published on January 2001

Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy

scientific article published on 24 March 2014

Nano-scale imaging of chromosomes and DNA by scanning near-field optical/atomic force microscopy.

scientific article

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.

scientific article

Scanning Near-field Optical/Atomic Force Microscopy detection of fluorescence in situ hybridization signals beyond the optical limit.

scientific article published in October 2003

The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations

scientific article published on 08 April 2014

The structure of C-banded human metaphase chromosomes as observed by atomic force microscopy

scientific article published on 01 January 2005

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