375 results on '"Suzuki, Hisato"'
Search Results
2. SALL4 deletion and kidney and cardiac defects associated with VACTERL association
3. The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up
4. Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis
5. Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration
6. Novel germline STAT3 gain-of-function mutation causes autoimmune diseases and severe growth failure
7. Gut microbiota of one-and-a-half-year-old food-allergic and healthy children
8. Oculofaciocardiodental syndrome caused by a novel BCOR variant
9. Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis
10. BMP2 is a potential causative gene for isolated dextrocardia situs solitus
11. Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences
12. Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing
13. Forebrain commissure formation in zebrafish embryo requires the binding of KLC1 to CRMP2
14. Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype(s)
15. Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant
16. Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
17. BCS1L mutations produce Fanconi syndrome with developmental disability
18. Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis
19. Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3
20. Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report
21. Café-au-lait Spots and Cleft Palate: Not a Chance Association.
22. Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly
23. Identification of a novel splice‐site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.
24. Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension
25. The first Japanese case of small airway disease in a patient with autosomal dominant cutis laxa harboring frameshift variant in exon 30 of the elastin gene
26. SALL4 deletion and renal and cardiac defects associated with VACTERL association
27. A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
28. Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes
29. Numerical modeling of flood flow after small earthen dam failure: a case study from the 2011 Tohoku earthquake
30. Rheumatoid arthritis in a patient with compound heterozygous variants in the COL11A2 gene and progressive hearing loss: A case report
31. Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function
32. X ‐linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to RPGR variant: A case report and literature review
33. Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan
34. Novel ARX mutation identified in infantile spasm syndrome patient
35. De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes
36. Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency
37. Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role ofKMT2Cdisruption
38. A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay
39. Oral Baclofen Therapy for Multifocal Spinal Myoclonus with TBC1D24 Variant
40. Familial café‐au‐lait macules associated with in‐frame deletion ofNF1p.Met992del mimicking Legius syndrome
41. Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy
42. A novel variant of ARPC4‐related neurodevelopmental disorder
43. sj-docx-1-cpc-10.1177_10556656231188205 - Supplemental material for Café-au-lait Spots and Cleft Palate: Not a Chance Association
44. A Case Study of Behavior Observation of Landslide Induced by Snowmelt After an Earthquake
45. Digital clubbing without hypoxia for lysinuric protein intolerance
46. Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report.
47. Genotyping NUDT15 can predict the dose reduction of 6-MP for children with acute lymphoblastic leukemia especially at a preschool age
48. De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments
49. De novo non-synonymous CTR9 variants are associated with motor delay and macrocephaly: human genetic and zebrafish experimental evidence
50. Preaxial polydactyly in an individual with Wiedemann‐Steiner syndrome caused by a novel nonsense mutation in KMT2A
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