Kiyoko Sameshima

Shibukawa, Japan

Last Updated: 09/26/2026

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Found 14 publications

Clinical features of 35 Down syndrome patients with transient abnormal myelopoiesis at a single institution.

Clinical features of 35 Down syndrome patients with transient abnormal myelopoiesis at a single institution.

Journal: International journal of hematology

Published: September 01, 2020

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

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

Journal: American journal of medical genetics. Part A

Published: March 26, 2020

Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy.

Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy.

Journal: European journal of medical genetics

Published: March 01, 2018

Familial campomelic dysplasia due to maternal germinal mosaicism.

Familial campomelic dysplasia due to maternal germinal mosaicism.

Journal: Congenital anomalies

Published: November 13, 2017

Nationwide survey of Baller‑Gerold syndrome in Japanese population.

Nationwide survey of Baller‑Gerold syndrome in Japanese population.

Journal: Molecular medicine reports

Published: July 19, 2016

A phase III clinical trial of a mixture agent of plasma-derived factor VIIa and factor X (MC710) in haemophilia patients with inhibitors.

A phase III clinical trial of a mixture agent of plasma-derived factor VIIa and factor X (MC710) in haemophilia patients with inhibitors.

Journal: Haemophilia : the official journal of the World Federation of Hemophilia

Published: June 16, 2016

Molecular genetic analysis of 30 families with Joubert syndrome.

Molecular genetic analysis of 30 families with Joubert syndrome.

Journal: Clinical genetics

Published: May 13, 2016

Mucolipidosis IV: A milder form with novel mutations and serial MRI findings.

Mucolipidosis IV: A milder form with novel mutations and serial MRI findings.

Journal: Brain & development

Published: November 21, 2015

A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.

A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.

Journal: Brain & development

Published: April 16, 2014

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

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

Journal: American journal of medical genetics. Part A

Published: November 20, 2013

Liver disease is frequently observed in Down syndrome patients with transient abnormal myelopoiesis.

Liver disease is frequently observed in Down syndrome patients with transient abnormal myelopoiesis.

Journal: International journal of hematology

Published: August 01, 2013

Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia.

Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia.

Journal: Congenital anomalies

Published: May 30, 2012

Showing 1-12 of 14

Last Updated: 09/26/2026