Kazuhiro Iwama


Ontology type: schema:Person     


Person Info

NAME

Kazuhiro

SURNAME

Iwama

Publications in SciGraph latest 50 shown

  • 2020-10-10 Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy in JOURNAL OF HUMAN GENETICS
  • 2020-09-18 Nonsense variants of STAG2 result in distinct congenital anomalies in HUMAN GENOME VARIATION
  • 2020-06-15 Retraction Note to: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes in JOURNAL OF HUMAN GENETICS
  • 2019-09-17 Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients in JOURNAL OF HUMAN GENETICS
  • 2019-06-07 Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy in NATURE COMMUNICATIONS
  • 2019-02-14 RETRACTED ARTICLE: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes in JOURNAL OF HUMAN GENETICS
  • 2018-11-28 De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-11-23 RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy in GENETICS IN MEDICINE
  • 2018-09-27 Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic in JOURNAL OF HUMAN GENETICS
  • 2018-07-17 A novel SLC9A1 mutation causes cerebellar ataxia in JOURNAL OF HUMAN GENETICS
  • 2018-01-16 Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy in JOURNAL OF HUMAN GENETICS
  • 2017-12-05 A novel mutation in SLC1A3 causes episodic ataxia in JOURNAL OF HUMAN GENETICS
  • 2016-02-18 Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations in JOURNAL OF HUMAN GENETICS
  • Affiliations

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