520 results on '"Narumi, Satoshi"'
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2. Differential toxicity and localization of arginine-rich C9ORF72 dipeptide repeat proteins depend on de-clustering of positive charges
3. Achievement of Developmental Milestones Recorded in Real Time: A Mobile App-Based Study
4. Whole-exome analysis of 177 pediatric patients with undiagnosed diseases
5. Letter to the Editor regarding “Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis”
6. Disulfide Bonds of Thyroid Peroxidase Are Critical Elements for Subcellular Localization, Proteasome-Dependent Degradation, and Enzyme Activity
7. Response to Letter to the Editor from Janot et al: « Single-Exon Deletions of ZNRF3 Exon 2 cause Congenital Adrenal Hypoplasia »
8. ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance
9. The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms
10. Genotype–Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TGDefects
11. Clinical and Immunological Analyses of Ten Patients with MIRAGE Syndrome
12. Genotype-Phenotype Correlations in Thirty Japanese Patients with Congenital Hypothyroidism Attributable to TG Defects
13. DHX37 Variant is One of Common Genetic Causes in Japanese Patients with Testicular Regression Syndrome / Partial Gonadal Dysgenesis without Müllerian Derivatives
14. Siblings with neonatal hyperbilirubinemia and the presence of UGT1A1 double missense variants
15. Concurrent THRB and DUOX2 variants in a patient detected via newborn screening for congenital hypothyroidism: a case of resistance to thyroid hormone
16. Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple DUOX2 Variants.
17. Prolongation of the Menstrual Cycle After Receipt of the Primary Series and Booster Doses of mRNA Coronavirus Disease 2019 (COVID-19) Vaccination
18. Hereditary paraganglioma presenting with atypical symptoms: Case report
19. Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells
20. Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1
21. Parathyroid adenoma with a somatic CASR pathogenic variant: A pediatric case report
22. Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica
23. MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene
24. Evaluating the seasonality of growth in infants using a mobile phone application
25. A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report
26. Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients
27. Age-Dependent and Seasonal Changes in Menstrual Cycle Length and Body Temperature Based on Big Data
28. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination
29. Single-exon deletions ofZNRF3exon 2 cause congenital adrenal hypoplasia
30. Congenital Hypothyroidism due to PAX8 Mutations
31. Single-Exon Deletions of ZNRF3Exon 2 Cause Congenital Adrenal Hypoplasia
32. A Small-for-Gestational-Age Infant with MIRAGE Syndrome Who Developed Heat Stroke and Rhabdomyolysis due to Severe Temperature Instability
33. Referee report. For: Investigating ultrastructural morphology in MIRAGE syndrome (SAMD9)-derived fibroblasts using transmission electron microscopy. [version 1; peer review: 1 approved with reservations]
34. Adult Thyroid Outcomes of Congenital Hypothyroidism
35. A thyroid adenoma in a pubertal male with thyroxine-binding globulin deficiency
36. Genome-wide association studies for thyroid physiology and diseases
37. A case of 46,XY complete gonadal dysgenesis with a novel missense variant in SRY
38. A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly
39. A case of syndromic congenital hypothyroidism with a 15.2 Mb interstitial deletion on 2q12.3q14.2 involving PAX8
40. Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin‐requiring antibody‐negative type 1 diabetes
41. Acquired uniparental disomy of chromosome 7 in a patient with MIRAGE syndrome that veiled a pathogenic SAMD9 variant
42. Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1
43. POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism
44. Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9/SAMD9L Germline Mutation
45. Digital clubbing without hypoxia for lysinuric protein intolerance
46. A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history
47. Paradoxical gain‐of‐function mutant of the G‐protein‐coupled receptor PROKR2 promotes early puberty
48. The Patterning and Proportion of Charged Residues in the Arginine-Rich Mixed-Charge Domain Determine the Membrane-Less Organelle Targeted by the Protein
49. Predicting the pathogenicity of NKX2-1 and IGSF1 variants with in silico bioinformatic tools
50. A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux
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