List of works - Kazuhiro Iwama - Paulina

List of works by Kazuhiro Iwama

A novel mutation in SLC1A3 causes episodic ataxia.

scientific article published on 5 December 2017

Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales

scientific article published on 21 May 2018

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

scientific article published on 27 September 2018

Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing

scientific article published on 06 March 2019

Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.

scientific article published on 8 February 2017

Nonsense variants in STAG2 result in distinct sex-dependent phenotypes

scientific article published on 14 February 2019

Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.

scientific article published on 16 January 2018

Retraction Note to: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes

scientific article published on 15 June 2020

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