Mami Yamasaki, M.D., Ph.D.
Affiliations: | Univ. of Osaka |
Google:
"Mami Yamasaki"Mean distance: 16.13 (cluster 11) | S | N | B | C | P |
BETA: Related publications
See more...
Publications
|
You can help our author matching system! If you notice any publications incorrectly attributed to this author, please sign in and mark matches as correct or incorrect. |
| Kato K, Miya F, Hori I, et al. (2019) Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate. Journal of Human Genetics |
| Hori I, Miya F, Negishi Y, et al. (2018) A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome. Journal of Human Genetics |
| Okamoto N, Tsuchiya Y, Miya F, et al. (2017) A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology. American Journal of Medical Genetics. Part A |
| Okamoto N, Miya F, Hatsukawa Y, et al. (2017) Siblings with optic neuropathy and RTN4IP1 mutation. Journal of Human Genetics |
| Hori I, Otomo T, Nakashima M, et al. (2017) Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement. Scientific Reports. 7: 3552 |
| Kato K, Miya F, Hori I, et al. (2017) A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate. Journal of Human Genetics |
| Okamoto N, Miya F, Tsunoda T, et al. (2017) Novel MCA/ID syndrome with ASH1L mutation. American Journal of Medical Genetics. Part A |
| Hamada N, Negishi Y, Mizuno M, et al. (2016) Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: Possible involvement in periventricular nodular heterotopia and intellectual disability. Journal of Neurochemistry |
| Bamba Y, Shofuda T, Kato M, et al. (2016) In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations. Molecular Brain. 9: 70 |
| Hori I, Miya F, Ohashi K, et al. (2016) Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. American Journal of Medical Genetics. Part A |