1,420 results on '"Kosaki, Kenjiro"'
Search Results
2. Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis
3. Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration
4. Novel germline STAT3 gain-of-function mutation causes autoimmune diseases and severe growth failure
5. Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis
6. PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing
7. Successful renal transplantation following hemodialysis as bridging therapy in a patient with Fechtner syndrome: a case report and literature review
8. Oculofaciocardiodental syndrome caused by a novel BCOR variant
9. Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome
10. Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome
11. A dyadic approach to the delineation of diagnostic entities in clinical genomics
12. BMP2 is a potential causative gene for isolated dextrocardia situs solitus
13. Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences
14. Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1
15. Familial hemophagocytic lymphohistiocytosis syndrome due to lysinuric protein intolerance: a patient with a novel compound heterozygous pathogenic variant in SLC7A7
16. BioHackathon 2015: Semantics of data for life sciences and reproducible research
17. Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing
18. Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures
19. Forebrain commissure formation in zebrafish embryo requires the binding of KLC1 to CRMP2
20. Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype(s)
21. Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2B
22. Genetic determinants of centenarian longevity, as quantified by the 'CentPGS' score, are associated with a lower risk of multiple age-related diseases and a longer healthspan.
23. Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly
24. Guidance on the need for contraception related to use of pharmaceuticals: the Japan Agency for Medical Research and Development Study Group for providing information on the proper use of pharmaceuticals in patients with reproductive potential
25. Four pedigrees with aminoacyl-tRNA synthetase abnormalities
26. Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant
27. Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
28. BCS1L mutations produce Fanconi syndrome with developmental disability
29. Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis
30. A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis
31. PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome
32. Systematic identification of intron retention associated variants from massive publicly available transcriptome sequencing data
33. Pro108Ser mutation of SARS-CoV-2 3CLpro reduces the enzyme activity and ameliorates the clinical severity of COVID-19
34. Omega-3 fatty acid epoxides produced by PAF-AH2 in mast cells regulate pulmonary vascular remodeling
35. Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3
36. Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report
37. An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions
38. Three patients of transthyretin amyloidosis in a Japanese family with amyloidogenic transthyretin Thr49Ser (p.Thr69Ser) variant
39. Identification of a novel splice‐site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.
40. Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome
41. GA4GH: International policies and standards for data sharing across genomic research and healthcare
42. 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
43. GATA2 deficiency of a novel missense variant with multiorgan inflammation
44. SALL4 deletion and renal and cardiac defects associated with VACTERL association
45. Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability
46. Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
47. Severe Liver Disorder Following Liver Transplantation in STING-Associated Vasculopathy with Onset in Infancy
48. CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
49. Germline multigene panel testing revealed a BRCA2 pathogenic variant in a patient with suspected Lynch syndrome
50. Cowden syndrome complicated by schizophrenia: A first clinical report
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