Yo Niida相关文献与解析，生知库 | 链接生命科学的每一步

An optimized cocktail of small molecule inhibitors promotes the maturation of dendritic cells in GM-CSF mouse bone marrow culture

优化的小分子抑制剂混合物可促进GM-CSF小鼠骨髓培养物中树突状细胞的成熟。

期刊:Frontiers in Immunology

影响因子:5.7

doi:10.3389/fimmu.2023.1264609

Shintaro Matsuba ，Hiroki Ura ，Fumiji Saito ，Chie Ogasawara ，Shigetaka Shimodaira ，Yo Niida ，Nobuyuki Onai

Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex

利用纳米孔测序技术进行靶向捕获全长双链cDNA长读长测序，揭示了结节性硬化症患者中一种新的内含子保留现象。

期刊:Frontiers in Genetics

影响因子:2.8

doi:10.3389/fgene.2023.1256064

Hiroki Ura,Sumihito Togi,Yo Niida

Sequencing

发表日期：2023

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A rare case of 1q31.1-q32.1 deletion with congenital heart disease

罕见的1q31.1-q32.1缺失合并先天性心脏病病例

期刊:Journal of Cardiology Cases

影响因子:

doi:10.1016/j.jccase.2023.02.017

Takarada, Shinya; Yoshimura, Naoki; Yo, Niida; Hirono, Keiichi

SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group C

近亲属常染色体隐性遗传病的 SNP 阵列筛查和基于长距离 PCR 的靶向下一代测序：从 C 组着色性干皮病病例中获取见解

期刊:Genes

影响因子:

doi:10.3390/genes14112079

Fumie Nomura, Akira Shimizu, Sumihito Togi, Hiroki Ura, Yo Niida

Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex

283名日本结节性硬化症患者的基因型和表型概况

期刊:International Journal of Molecular Sciences

影响因子:0.7

doi:10.3390/ijms231911175.

Sumihito Togi,Hiroki Ura,Hisayo Hatanaka,Yo Niida

发表日期：2022

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Target-capture full-length double-strand cDNA sequencing for alternative splicing analysis

用于可变剪接分析的靶向捕获全长双链cDNA测序

期刊:RNA Biology

影响因子:3.6

doi:10.1080/15476286.2021.1872961.

Hiroki Ura,Sumihito Togi,Yo Niida

发表日期：2021

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Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family

家族性多灶性微结节性肺细胞增生伴有 TSC1 新型剪接突变：同一家族中三例

期刊:PLoS One

影响因子:2.9

doi:10.1371/journal.pone.0212370

Tetsuaki Shoji, Satoshi Konno, Yo Niida, Takahiro Ogi, Masaru Suzuki, Kaoruko Shimizu, Yasuhiro Hida, Kichizo Kaga, Kuniaki Seyama, Tomoaki Naka, Yoshihiro Matsuno, Masaharu Nishimura

Comparison of RNA-Sequencing Methods for Degraded RNA

降解RNA的RNA测序方法比较

An optimized cocktail of small molecule inhibitors promotes the maturation of dendritic cells in GM-CSF mouse bone marrow culture

优化的小分子抑制剂混合物可促进GM-CSF小鼠骨髓培养物中树突状细胞的成熟。

Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex

利用纳米孔测序技术进行靶向捕获全长双链cDNA长读长测序，揭示了结节性硬化症患者中一种新的内含子保留现象。

A rare case of 1q31.1-q32.1 deletion with congenital heart disease

罕见的1q31.1-q32.1缺失合并先天性心脏病病例

SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group C

近亲属常染色体隐性遗传病的 SNP 阵列筛查和基于长距离 PCR 的靶向下一代测序：从 C 组着色性干皮病病例中获取见解

Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex

283名日本结节性硬化症患者的基因型和表型概况

Target-capture full-length double-strand cDNA sequencing for alternative splicing analysis

用于可变剪接分析的靶向捕获全长双链cDNA测序

Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family

家族性多灶性微结节性肺细胞增生伴有 TSC1 新型剪接突变：同一家族中三例