K. Yoshiura

发表

BAC array CGH reveals genomic aberrations in idiopathic mental retardation

Naomichi Matsumoto, Kenji Kurosawa, Yoshio Makita, 2006, American journal of medical genetics. Part A.

Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome

M. Miyajima, H. Arai, N. Matsumoto, 2016, Scientific Reports.

A locus for ophthalmo‐acromelic syndrome mapped to 10p11.23

N. Niikawa, A. Mégarbané, N. Matsumoto, 2009, American journal of medical genetics. Part A.

Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia

N. Niikawa, N. Matsumoto, T. Ohta, 2005, American journal of medical genetics. Part A.

A −16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano

Y. Fukushima, N. Matsumoto, Kunihiro Yoshida, 2006, Journal of Human Genetics.

A Patient with Kabuki Syndrome Mutation Presenting with Very Severe Aplastic Anemia

A. Kinoshita, T. Sonoki, H. Mishima, 2021, Acta Haematologica.

Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.

Y. Fukushima, N. Niikawa, T. Shiihara, 2003, American journal of human genetics.

Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome

M. Miyajima, H. Arai, N. Matsumoto, 2017, Scientific Reports.

No detectable genomic aberrations by BAC array CGH in Kabuki make‐up syndrome patients

Y. Fukushima, N. Niikawa, N. Matsumoto, 2006, American journal of medical genetics. Part A.

Loss of heterozygosity on chromosome 9q22.3 in microdissected basal cell carcinomas around the Semipalatinsk Nuclear Testing Site, Kazakhstan.

N. Matsumoto, M. Nakashima, I. Sekine, 2004, Human pathology.

A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.

Y. Fukushima, N. Matsumoto, Kunihiro Yoshida, 2006, Journal of human genetics.

Identification of eight novel NSD1 mutations in Sotos syndrome

N. Niikawa, K. Yoshiura, N. Matsumoto, 2003, Journal of medical genetics.