29 results on '"Sugiyama, Yohei"'
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2. Novel ITPA variants identified by whole genome sequencing and RNA sequencing
3. Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder
4. Precision dual-comb spectroscopy using wavelength-converted frequency combs with low repetition rates
5. A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia
6. Phase locking and absolute frequency stabilization of laser sources for a Pr:YSO quantum memory
7. Comparison of methemoglobin levels in food protein-induced enterocolitis syndrome and other gastrointestinal diseases in neonates
8. Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation
9. Acute Encephalopathy Caused by Inherited Metabolic Diseases
10. Complications in Infants of Diabetic Mothers Related to Glycated Albumin and Hemoglobin Levels During Pregnancy
11. Precision dual-comb spectroscopy using wavelength-converted frequency combs in the visible-wavelength region
12. Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion
13. Additional file 2 of A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia
14. Additional file 1 of A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia
15. Novel ITPAvariants identified by whole genome sequencing and RNA sequencing
16. Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A
17. Adult-onset Still’s disease during pregnancy that delivered a neonate with haemophagocytic lymphohistiocytosis and severe liver failure requiring liver transplantation: A case report and literature review
18. Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis
19. Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients
20. A Japanese single-center experience of the efficacy and safety of enzyme replacement therapy in childhood-onset hypophosphatasia
21. Spectral normalization in dual-comb spectroscopy of acetylene using a sealed gas cell and a liquid nitrogen trap
22. Adult-onset Still's disease during pregnancy that delivered a neonate with haemophagocytic lymphohistiocytosis and severe liver failure requiring liver transplantation: A case report and literature review.
23. Therapeutic effect of N-carbamylglutamate in CPS1 deficiency
24. Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: Evaluation of outcomes after liver transplantation
25. Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis
26. Kinematic and Kinetic Profiles of Trunk and Lower Limbs during Baseball Pitching in Collegiate Pitchers
27. Comparison of 3 Indices for Assessing the Severity of Bronchial Asthma Exacerbations in Children
28. Vigabatrin Therapy for Infantile Spasms in a Case of Cardiofaciocutaneous Syndrome with Cardiac Hypertrophy Developing during Adrenocorticotropic Hormone Treatment
29. A Protective Effect against Undesirable Increase of Dihydroetorphine Permeation through Damaged Skin by Using Pressure-Sensitive Adhesive Tape with an Ethylene-Vinyl Acetate Co-Polymer Membrane.
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