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List of works by Kiyoko Sameshima

5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant.

scientific article published on 20 September 2010

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

scientific article published on 16 July 2014

Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.

scientific article published on 7 February 2013

Effects of pure 2,4-dichlorophenoxyacetic acid on cultured rat embryos.

scientific article

Effects of supplemental L-methionine on E-64 [trans-epoxysuccinyl-1-leucyl-amido (4-guanido) butane]-induced dysmorphology in rat embryos cultured in vitro.

scientific article published in December 2003

Familial campomelic dysplasia due to maternal germinal mosaicism

scientific article published on 14 March 2018

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

scientific article published on 14 December 2013

Nationwide survey of Baller‑Gerold syndrome in Japanese population

scientific article published on 28 March 2017

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

scientific article published on June 1, 2012

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

scientific article published on 08 April 2014

Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome

scientific article published in June 2006

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

scientific article published on 18 July 2018

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