Osamu Shimokawa
Osaka, Japan
Last Updated: 09/26/2026
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Found 12 publications
Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.
Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: July 06, 2026
Beckwith-Wiedemann spectrum exhibiting a 46,XY karyotype caused by genome-wide paternal uniparental heterodisomy: a case report.
Journal: Human genomics
Published: March 21, 2026
The fetal brain neurosonography in trisomy 21: the seagull sign and thinned subplate.
Journal: American journal of obstetrics and gynecology
Published: April 04, 2025
Prenatal diagnosis of fetal brain asymmetry with normal amniotic fluid genetic testing: a somatic variant in the brain.
Journal: American journal of obstetrics and gynecology
Published: March 27, 2025
Open isthmus and lambda sign of early Joubert syndrome: elucidating development of molar tooth sign.
Open isthmus and lambda sign of early Joubert syndrome: elucidating development of molar tooth sign.
Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: February 15, 2024
Aortic Dissection and a Previously Unreported ACTA2 Missense Variant Mutation in a Young Patient: A Case Report.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: September 06, 2023
Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome.
Journal: Clinical genetics
Published: June 16, 2023
Somatic mosaicism of the PI3K-AKT-MTOR pathway is associated with hemimegalencephaly in fetal brains.
Journal: Neuropathology : official journal of the Japanese Society of Neuropathology
Published: July 20, 2022
Clinical Validation of Fetal cfDNA Analysis Using Rolling-Circle-Replication and Imaging Technology in Osaka (CRITO Study).
Journal: Diagnostics (Basel, Switzerland)
Published: August 24, 2021
D-karyo-A New Prenatal Rapid Screening Test Detecting Submicroscopic CNVs and Mosaicism.
Journal: Diagnostics (Basel, Switzerland)
Published: December 31, 2020
Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.
Journal: American journal of medical genetics. Part A
Published: April 06, 2015
Showing 1-12 of 12
Last Updated: 09/26/2026