Katsuhiro Hosono

5PUBLICATIONS
8CO-AUTHORS
NeonatologyEpigenetics (incl. genome methylation and epigenomics)Medical infection agents (incl. prions)Developmental genetics (incl. sex determination)Infant and child health
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Publications (5)

|Mar 25, 2023
A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.

Hazuki Morikawa, Sachiko Nishina, Kaoruko Torii

|Feb 28, 2021
Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome.

Sachiko Nishina, Katsuhiro Hosono, Shizuka Ishitani

|Mar 29, 2020
Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1.

Takaaki Hayashi, Katsuhiro Hosono, Akiko Kubo

|Jan 31, 2020
Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient.

Satoshi Katagiri, Katsuhiro Hosono, Takaaki Hayashi

|Jul 21, 2018
Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.

Kentaro Kurata, Katsuhiro Hosono, Yoshihiro Hotta

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