1,162 results on '"Matsubara, Yoichi"'
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2. Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing
3. A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD
4. Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures
5. Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct
6. Pixel-wise parallel calculation for depth from focus with adaptive focus measure
7. Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype
8. A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD
9. A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1
10. Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis
11. Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes
12. A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type
13. Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome
14. Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes
15. STAT6 gain-of-function variant exacerbates multiple allergic symptoms
16. Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP)
17. A novel homozygous variant of the PIGKgene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures
18. Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells
19. Exome sequencing reveals that the CYP1B1 and FOXC1 genes are mainly responsible for childhood glaucoma in Japanese patients
20. Genitopatellar syndrome: the first reported case in Japan
21. Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin‐requiring antibody‐negative type 1 diabetes
22. Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan
23. Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations
24. Paradoxical gain‐of‐function mutant of the G‐protein‐coupled receptor PROKR2 promotes early puberty
25. Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues
26. Cover Image, Volume 38, Issue 1
27. Targeted Next-Generation Sequencing Effectively Analyzed the Cystic Fibrosis Transmembrane Conductance Regulator Gene in Pancreatitis
28. Casitas B-cell lymphoma mutation in childhood T-cell acute lymphoblastic leukemia
29. HRAS and Costello Syndrome
30. Correction: Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan
31. Association between Cancer Risk and Drug-metabolizing Enzyme Gene (CYP2A6, CYP2A13, CYP4B1, SULT1A1, GSTM1 and GSTT1) Polymorphisms in Cases of Lung Cancer in Japan
32. A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder
33. Two-Stage Pulse Tube Refrigerator for 20 K Operation
34. High Efficient Pulse Tube Refrigerator with Linear-Motor Drive Compressor
35. A 7.7 T NbTi Superconducting Magnet System Cooled by a 4 K Gm Refrigerator
36. Recent studies on biological control of plant diseases in Japan
37. Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype
38. First Japanese case of Zellweger syndrome with a mutation in PEX14
39. Pixel-wise parallel calculation for depth from focus with adaptive focus measure
40. Mutations in PIGL in a patient with Mabry syndrome
41. A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines
42. Molecular Cloning of cDNAs Encoding Rat and Human Medium-Chain Acyl-CoA Dehydrogenase and Assignment of the Gene to Human Chromosome 1
43. New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome
44. Ras/MAPK syndromes and childhood hemato-oncological diseases
45. Hyperleucine-Isoleucinemia
46. X-linked inhibitor of apoptosis protein deficiency complicated with Crohn's disease-like enterocolitis and Takayasu arteritis: A case report
47. Sequential analysis of amino acid substitutions with hepatitis B virus in association with nucleoside/nucleotide analog treatment detected by deep sequencing
48. Hepatocyte transplantation using a living donor reduced graft in a baby with ornithine transcarbamylase deficiency: A novel source of hepatocytes
49. Biallelic CC2D2Avariants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing
50. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
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