Kenji Kurosawa

Ontology type: schema:Person     

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Publications in SciGraph latest 50 shown

  • 2019-12 A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation in HUMAN GENOME VARIATION
  • 2018-12 Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction in HUMAN GENOME VARIATION
  • 2018-12 Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy in HUMAN GENOME VARIATION
  • 2018-11 Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion in JOURNAL OF HUMAN GENETICS
  • 2018-06 Targeting G-quadruplex DNA as cognitive function therapy for ATR-X syndrome in NATURE MEDICINE
  • 2017-06-08 A novel UBE2A mutation causes X-linked intellectual disability type Nascimento in HUMAN GENOME VARIATION
  • 2016-04 SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements in JOURNAL OF HUMAN GENETICS
  • 2016-02 Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations in HUMAN GENETICS
  • 2014-11 Combination of Miller–Dieker syndrome and VACTERL association causes extremely severe clinical presentation in EUROPEAN JOURNAL OF PEDIATRICS
  • 2014-04 Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies in JOURNAL OF NEUROLOGY
  • 2011-10 HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome in JOURNAL OF HUMAN GENETICS
  • 2010-12 Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies in JOURNAL OF HUMAN GENETICS
  • 2010-02 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2008-09 Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome in JOURNAL OF HUMAN GENETICS
  • 2008-02 Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes in NATURE GENETICS
  • 2005-10 Germline mutations in HRAS proto-oncogene cause Costello syndrome in NATURE GENETICS
  • 2005-03 1p36 deletion syndrome with intestinal malrotation and annular pancreas in EUROPEAN JOURNAL OF PEDIATRICS
  • 1999-07-01 Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature in JOURNAL OF HUMAN GENETICS
  • 1996-09 A japanese patient with X-linked α-thalassemia/mental retardation syndrome: An additional case report in JOURNAL OF HUMAN GENETICS
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