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Your search keyword '"Goro Sasaki"' showing total 27 results

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27 results on '"Goro Sasaki"'

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1. Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis

2. Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency

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3. Genetic defects in pediatric-onset adrenal insufficiency in Japan

4. Variants associated with autoimmune Type 1 diabetes in Japanese children: implications for age-specific effects of cis-regulatory haplotypes at 17q12-q21

5. Status and trends in the use of insulin analogs, insulin delivery systems and their association with glycemic control: comparison of the two consecutive recent cohorts of Japanese children and adolescents with type 1 diabetes mellitus

6. Human Chorionic Gonadotropin Stimulation Test in Prepubertal Children with Micropenis Can Accurately Predict Leydig Cell Function in Pubertal or Postpubertal Adolescents

7. MLL2 and KDM6A mutations in patients with Kabuki syndrome

8. HLA-class II and class I genotypes among Japanese children with Type 1A diabetes and their families

9. Identification of chromosome 15q26 terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis

10. Testicular Dysgenesis without Adrenal Insufficiency in a 46,XY Patient with a Heterozygous Inactive Mutation of Steroidogenic Factor-1

11. Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations

12. The contribution of serine 194 phosphorylation to steroidogenic acute regulatory protein function

13. Evaluation of autonomic nervous system function with spectral analysis of heart rate variability in a case of tetanus

14. Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH

15. Pyridoxine-Induced Photosensitivity and Hypophosphatasia

17. A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum

18. Treatment with a gonadotropin-releasing-hormone analog and attainment of full height potential in a male monozygotic twin with gonadotropin-releasing hormone-dependent precocious puberty

19. Growth failure in an infant with congenital nephrogenic diabetes insipidus during sodium restriction

20. Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis

21. Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients

22. Giant seminoma in a patient with 5 alpha-reductase type 2 deficiency

23. Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development

24. SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features

25. Micropenis and the AR Gene: mutation and CAG repeat-length analysis

26. Multiple polypoid masses in the gastrointestinal tract in patient with Menkes disease on copper-histidinate therapy

27. Acknowledgment to Referees for Dermatology