Satoshi Watanabe


Ontology type: schema:Person     


Person Info

NAME

Satoshi

SURNAME

Watanabe

Publications in SciGraph latest 50 shown

  • 2019-12-13 KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup) in HUMAN GENOME VARIATION
  • 2019-11-19 Effect of food on the pharmacokinetics and therapeutic efficacy of 4-phenylbutyrate in progressive familial intrahepatic cholestasis in SCIENTIFIC REPORTS
  • 2019-05-29 Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan 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
  • 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
  • 2017-01-12 Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome in SCIENTIFIC REPORTS
  • 2016-03-09 Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome in SCIENTIFIC REPORTS
  • 2014-10-21 Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-06-02 De novo SOX11 mutations cause Coffin–Siris syndrome in NATURE COMMUNICATIONS
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