16 results on '"Sasaki, Kensaku"'
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2. Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair
3. Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations
4. Prenatal Diagnosis of Costello Syndrome Using 3D Ultrasonography Amniocentesis Confirmation of the Rare HRAS Mutation G12D
5. Agile parallel bioinformatics workflow management using Pwrake
6. Copy Number Alteration and Uniparental Disomy Analysis Categorizes Japanese Papillary Thyroid Carcinomas into Distinct Groups
7. Agile parallel bioinformatics workflow management using Pwrake.
8. Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia
9. Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome
10. Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer
11. Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations
12. Copy Number Alteration and Uniparental Disomy Analysis Categorizes Japanese Papillary Thyroid Carcinomas into Distinct Groups
13. Agile parallel bioinformatics workflow management using Pwrake
14. Japanese and North American/European patients with Beckwith–Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations
15. Recovery of Abrasive Grains by Combustion/Thermal Degradation of Waste Grinding Wheels in O2/N2 and Steam/N2 Atmospheres
16. [Molecular cloning and characterisation of UVSSA, the responsible gene for UV-sensitive syndrome].
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