26 results on '"Ohkubo, Yumiko"'
Search Results
2. ACAN biallelic variants in a girl with severe idiopathic short stature
3. Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant
4. ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance
5. Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing
6. Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation
7. Additional file 5 of ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance
8. Additional file 2 of ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance
9. Additional file 3 of ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance
10. Additional file 1 of ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance
11. Additional file 7 of ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance
12. Additional file 4 of ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance
13. Additional file 8 of ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance
14. Additional file 6 of ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance
15. Novel mutations in the cytochrome P450 2C19 gene: a pitfall of the PCR-RFLP method for identifying a common mutation
16. Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole‐exome sequencing
17. Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population
18. Long follow up of betaine therapy in two Japanese siblings with cystathionine β-synthase deficiency
19. Urinary uracil in female patients with ornithine transcarbamylase deficiency
20. ACANbiallelic variants in a girl with severe idiopathic short stature
21. Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene
22. A Simple Quantitative Assay for Urinary Adenosine Using Column-Switching High-Performance Liquid Chromatography
23. Novel mutations in the cytochrome P450 2C19 gene: a pitfall of the PCR-RFLP method for identifying a common mutation
24. Vitamin B6-Responsive Ornithine Aminotransferase Deficiency with a Novel Mutation G237D
25. Urinary pyrimidine analysis in healthy newborns and newborns with urea cycle disorder
26. Gout and Nucleic Acid Metabolism
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