author-photo

Yasuki Ishihara

Osaka University

6

Papers

4

Citations

Citation Trend

Filter By

Papers (4) Sort By

Journal Conference Others

Genotype-phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling.

2021 Bone
Show All
- Source
- Cite
- Save
Citations (0)
Corrigendum to: HECW2 -related disorder in four Japanese patients (American Journal of Medical Genetics Part A, (ajmg.a.62363), 10.1002/ajmg.a.62363)

2021 American Journal of Medical Genetics Part A
Show All
- Source
- Cite
- Save
Citations (0)
A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting.

2021 Human genome variation
Show All
- Source
- Cite
- Save
Citations (1)
Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia

2020 Endocrine Journal
Show All
- Source
- Cite
- Save
Citations (1)