Mami Yamasaki
Takatsuki, Japan
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 40 publications
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate.
Journal: Journal of human genetics
Published: April 28, 2019
Significance of molecular classification of ependymomas: C11orf95-RELA fusion-negative supratentorial ependymomas are a heterogeneous group of tumors.
Journal: Acta neuropathologica communications
Published: November 02, 2018
Publisher Correction: IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis.
Journal: Scientific reports
Published: July 05, 2018
A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome.
Journal: Journal of human genetics
Published: February 19, 2018
IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis.
Journal: Scientific reports
Published: July 12, 2017
Systemic Intravenous Adoptive Transfer of Autologous Lymphokine-activated αβ T-Cells Improves Temozolomide-induced Lymphopenia in Patients with Glioma.
Journal: Anticancer research
Published: May 02, 2017
Visualization of migration of human cortical neurons generated from induced pluripotent stem cells.
Journal: Journal of neuroscience methods
Published: April 13, 2017
A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.
Journal: Journal of human genetics
Published: March 27, 2017
Siblings with optic neuropathy and RTN4IP1 mutation.
Journal: Journal of human genetics
Published: February 19, 2017
A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology.
Journal: American journal of medical genetics. Part A
Published: February 04, 2017
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.
Journal: Scientific reports
Published: January 25, 2017
Last Updated: 09/26/2026