16 results on '"Matsubara, Yoichi"'
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2. Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing
3. A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD
4. Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures
5. Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct
6. Pixel-wise parallel calculation for depth from focus with adaptive focus measure
7. Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype
8. A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD
9. A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1
10. Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis
11. STAT6 gain-of-function variant exacerbates multiple allergic symptoms
12. A novel homozygous variant of the PIGKgene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures
13. Exome sequencing reveals that the CYP1B1 and FOXC1 genes are mainly responsible for childhood glaucoma in Japanese patients
14. Biallelic CC2D2Avariants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing
15. Genetically humanized phenylketonuria mouse model as a testing tool for human genome editing in fertilized eggs.
16. A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures.
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