Takahiro Yamada

Sapporo, Japan

Last Updated: 09/26/2026

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Found 209 publications

Identification of a novel and a recurrent CDC45 variant in a Chinese family with Meier-Gorlin syndrome 7 and a literature review.

Identification of a novel and a recurrent CDC45 variant in a Chinese family with Meier-Gorlin syndrome 7 and a literature review.

Journal: Frontiers in genetics

Published: May 28, 2026

A novel truncating FBN1 variant in a family with Marfan syndrome.

A novel truncating FBN1 variant in a family with Marfan syndrome.

Journal: Human genome variation

Published: March 11, 2026

Cyst-predominant nonfibrotic hypersensitivity pneumonitis mimicking Birt-Hogg-Dubé syndrome.

Cyst-predominant nonfibrotic hypersensitivity pneumonitis mimicking Birt-Hogg-Dubé syndrome.

Journal: Virchows Archiv : an international journal of pathology

Published: February 23, 2026

Initial biomarker testing strategies and clinical outcomes in advanced non-small cell lung cancer.

Initial biomarker testing strategies and clinical outcomes in advanced non-small cell lung cancer.

Journal: iScience

Published: October 02, 2025

A Nationwide Survey Investigating the Current Status of Genetic Counseling in Newborn Screening in Japan.

A Nationwide Survey Investigating the Current Status of Genetic Counseling in Newborn Screening in Japan.

Journal: International journal of neonatal screening

Published: September 08, 2025

Leukoencephalopathy with primary familial brain calcification: A rare phenotype associated with a novel SLC20A2 frameshift.

Leukoencephalopathy with primary familial brain calcification: A rare phenotype associated with a novel SLC20A2 frameshift.

Journal: Clinical neurology and neurosurgery

Published: September 07, 2025

Clinical Implications of Low Cell-Free DNA Fetal Fraction in Non-Invasive Prenatal Testing: A Retrospective Cohort Study of 40,716 Pregnancies.

Clinical Implications of Low Cell-Free DNA Fetal Fraction in Non-Invasive Prenatal Testing: A Retrospective Cohort Study of 40,716 Pregnancies.

Journal: Prenatal diagnosis

Published: April 07, 2025

Changes in the attitudes of women who have undergone NIPT toward prenatal testing: The impact of the introduction of the prenatal testing certification system in Japan.

Changes in the attitudes of women who have undergone NIPT toward prenatal testing: The impact of the introduction of the prenatal testing certification system in Japan.

Journal: The journal of obstetrics and gynaecology research

Published: April 02, 2025

Pemetrexed plus platinum as second-line treatment for patients with pleural mesothelioma treated with nivolumab plus ipilimumab.

Pemetrexed plus platinum as second-line treatment for patients with pleural mesothelioma treated with nivolumab plus ipilimumab.

Journal: Lung cancer (Amsterdam, Netherlands)

Published: March 24, 2025

Mathematical mechanistic model representing the cancer immunity cycle under radiation effects.

Mathematical mechanistic model representing the cancer immunity cycle under radiation effects.

Journal: Scientific reports

Published: March 24, 2025

Development and validation of an improved volumetric breast density estimation model using the ResNet technique.

Development and validation of an improved volumetric breast density estimation model using the ResNet technique.

Journal: Biomedical physics & engineering express

Published: January 21, 2025

Familial Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins Caused by Paternal FOXF1 Upstream Enhancer Deletion: A Case Report.

Familial Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins Caused by Paternal FOXF1 Upstream Enhancer Deletion: A Case Report.

Journal: American journal of medical genetics. Part A

Published: December 19, 2024

Showing 1-12 of 209

Last Updated: 09/26/2026