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2. Monogenic causes of pigmentary mosaicism

3. Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia

8. Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

12. sj-pdf-1-imr-10.1177_03000605231187819 - Supplemental material for A case report of allergic reaction with acute facial swelling: a rare complication of dental acrylic resin

14. Factors Related to Oral Problems in Patients with Prolonged Disorders of Consciousness in Long-Term Care: A Cross-Sectional Study.

19. Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

22. Dominant-negative mutations in [alpha]-II spectrin cause west syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay

26. Whole genome sequencing of 45 Japanese patients with intellectual disability

35. Harmonized data on early stage litter decomposition using tea material across Japan

36. Altered morphologies and physiological compensation in a rapidly expanding dwarf bamboo in alpine ecosystems

40. The Role of ARX in Human Pancreatic Endocrine Specification

48. Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis

49. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

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