Sumito Dateki


Ontology type: schema:Person     


Person Info

NAME

Sumito

SURNAME

Dateki

Publications in SciGraph latest 50 shown

  • 2020-09-14 Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia in HUMAN GENOME VARIATION
  • 2019-12-13 KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup) in HUMAN GENOME VARIATION
  • 2019-09-17 Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients in JOURNAL OF HUMAN GENETICS
  • 2019-02-22 Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome in JOURNAL OF HUMAN GENETICS
  • 2019-01-28 A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency in JOURNAL OF HUMAN GENETICS
  • 2018-03-29 Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome in HUMAN GENOME VARIATION
  • 2018-01-15 A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome in JOURNAL OF HUMAN GENETICS
  • 2018-01-09 A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure in CEN CASE REPORTS
  • 2017-06-08 Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver–Russell syndrome in JOURNAL OF HUMAN GENETICS
  • 2017-03-23 Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation in JOURNAL OF HUMAN GENETICS
  • 2016-03-17 Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri–Weill dyschondrosteosis in JOURNAL OF HUMAN GENETICS
  • 2014-05-08 Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities in JOURNAL OF HUMAN GENETICS
  • 2010-04-16 A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency in HUMAN GENETICS
  • 2008-03-06 Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis in JOURNAL OF HUMAN GENETICS
  • 2007-06-26 A Japanese patient with a mild Lenz–Majewski syndrome in JOURNAL OF HUMAN GENETICS
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