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Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study

artículo científico publicado en 2019

Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan

artículo científico publicado en 2019

Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan

scientific article published on 13 July 2020

Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT

scientific article published on 10 January 2019

Clinical significance of TP53 variants as possible secondary findings in tumor-only next-generation sequencing

scientific article published on 18 October 2019

Correction: Maternal age-specific risk for trisomy 21 based on the clinical performance of NIPT and empirically derived NIPT age-specific positive and negative predictive values in Japan

scientific article published on 01 October 2018

Current status and legal/ethical problems in the research use of the tissues of aborted human fetuses in Japan

artículo científico publicado en 2020

Investigating the role of genetic counseling in neuromuscular disease considering life events

scientific article published on 13 March 2019

Isolated gestational proteinuria preceding the diagnosis of preeclampsia - an observational study

artículo científico publicado en 2016

Maternal age-specific risk for trisomy 21 based on the clinical performance of NIPT and empirically derived NIPT age-specific positive and negative predictive values in Japan

scientific article published on 30 May 2018

Patients with SATB2-associated syndrome exhibiting multiple odontomas

artículo científico publicado en 2018

Perinatal benign hypophosphatasia antenatally diagnosed through measurements of parental serum alkaline phosphatase and ultrasonography

scientific article published on 11 May 2020

Pseudo-homozygous mutation due to a primer site polymorphism in hereditary ATTR amyloidosis: a pitfall of PCR-based genetic testing

artículo científico publicado en 2017

The short-term mortality and morbidity of very low birth weight infants with trisomy 18 or trisomy 13 in Japan

scientific article published on 17 September 2020

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