Masaaki Shiina

Ontology type: schema:Person     

Person Info





Publications in SciGraph latest 50 shown

  • 2018-02-13 A homozygous NOP14 variant is likely to cause recurrent pregnancy loss in JOURNAL OF HUMAN GENETICS
  • 2017-12-05 A novel mutation in SLC1A3 causes episodic ataxia in JOURNAL OF HUMAN GENETICS
  • 2017-02-16 Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder in JOURNAL OF HUMAN GENETICS
  • 2017-01-16 Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing in NATURE GENETICS
  • 2017-01-12 PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder in JOURNAL OF HUMAN GENETICS
  • 2016-10-13 Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation in HUMAN GENOME VARIATION
  • 2015-06-25 Novel compound heterozygous LIAS mutations cause glycine encephalopathy in JOURNAL OF HUMAN GENETICS
  • 2015-05-13 Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-04-23 Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder in THE JOURNAL OF HEADACHE AND PAIN
  • 2014-11-24 Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation in SCIENTIFIC REPORTS
  • 2014-06-02 De novo SOX11 mutations cause Coffin–Siris syndrome in NATURE COMMUNICATIONS
  • 2013-10-08 A hemizygous GYG2 mutation and Leigh syndrome: a possible link? in HUMAN GENETICS
  • 2013-04-04 Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia in JOURNAL OF HUMAN GENETICS
  • 2012-03-18 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome in NATURE GENETICS
  • 2006-06 Systemic sclerosis and pseudomesotheliomatous adenocarcinoma of the lung in MODERN RHEUMATOLOGY
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