「Clinical diagnostic value of telomere length measurement in inherited bone marrow failure syndromes」の関連論文
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Germline and somatic RUNX1 variants in a pediatric bone marrow failure cohort
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Whole-exome analysis of 177 pediatric patients with undiagnosed diseases
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“その他の医原性免疫不全関連リンパ増殖性疾患”の臨床的特徴及び遺伝子変異解析についての研究
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Phosphorylated proteome analysis of a novel germline ABL1 mutation causing an autosomal dominant syndrome with ventricular septal defect
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悪性リンパ腫における血中循環細胞外遊離DNAを用いたゲノム解析に関する研究
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ジュベール症候群関連疾患の臨床遺伝学的解析
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鰓耳腎症候群における多様な臨床表現型と遺伝型の検討
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Higher FVIII:C measured by chromogenic substrate assay than by one-stage assay is associated with silent hemophilic arthropathy
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日本人高度蛋白尿患者に対する包括的遺伝子診断
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Rare single-nucleotide DAB1 variants and their contribution to Schizophrenia and autism spectrum disorder susceptibility
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Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor
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Study on the clinical outcome and molecular changes of precursor-targeted immune-mediated anemia treated with splenectomy [an abstract of entire text]
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Integrated genetic and epigenetic analysis revealed heterogeneity of acute lymphoblastic leukemia in Down syndrome
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Genetic analysis of pheochromocytoma and paraganglioma complicating cyanotic congenital heart disease
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Studies on the pathophysiology and current treatment status of ion channel-related muscle diseases
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神経線維腫症2型の臨床的・遺伝的背景の解析
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FLI1遺伝子マイクロサテライト多型と全身性強皮症との関連の検討
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Rare Genetic Variants in the Gene Encoding Histone Lysine Demethylase 4C (KDM4C) and Their Contributions to Susceptibility to Schizophrenia and Autism Spectrum Disorder
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慢性気道感染症のエリスロマイシン療法における遺伝子および遺伝子制御マーカーの研究
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Epidemiology of Japanese patients with atypical hemolytic uremic syndrome, and characteristics of patients with anti-CFH antibodies
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Investigation of OLIG2 as a candidate gene for schizophrenia and autism spectrum disorder
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Mutations in SAM syndrome and palmoplantar keratoderma patients suggest genotype/phenotype correlations in DSG1 mutations
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転移または再発乳癌の末梢血循環DNA変異解析の検討
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末梢血のmulticolor flowcytometryとliquid biopsyによるcell-free DNAのRHOAG17V変異解析を組み合わせた血管免疫芽球性T細胞リンパ腫解析法の確立 および ホジキンリンパ腫細胞株(AM-HLH)の樹立
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Donor single nucleotide polymorphism in ACAT1 affects the incidence of graft‑versus‑host disease after bone marrow transplantation
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マルチリージョンシークエンスを用いた腫瘍内不均一性と腫瘍進化の過程の解析
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家族性高コレステロール血症の遺伝子変異と病態の多様性に関する研究
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慢性肉芽腫症における肉芽腫形成の機序の解明と新規治療薬の開発
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Clinical significance of RAS pathway alterations in pediatric acute myeloid leukemia
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Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis
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癌患者ゲノミクスデータ解析を基盤とした乳癌幹細胞性維持機構の解明
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低腫瘍量濾胞性リンパ腫における遺伝子発現に基づく新規予後予測モデルの構築
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Quantitative monitoring of circulating tumor DNA in patients with advanced pancreatic cancer undergoing chemotherapy
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複数の遺伝子変異が関与する遺伝性難聴症例の解析
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全エクソーム解析による成人発症遺伝性ミオパチーの新規遺伝子変異同定
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Clustering using unsupervised machine learning to stratify the risk of immune-related liver injury
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Transcriptome-wide Analysis of Intracranial Artery in Patients with Moyamoya Disease Showing Up-regulation of Immune Response, and Down-regulation of Oxidative Phosphorylation and DNA Repair
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先天性インプリント異常症と生殖補助医療との関連性についての検討
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Distinctive distribution of brain volume reductions in MELAS and mitochondrial DNA A3243G mutation carriers: A voxel-based morphometric study
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Clinicopathologic Analysis of Primary Adrenal Diffuse Large B-Cell Lymphoma : A Reappraisal of 23 Japanese Patients Based on EBV Association and PD-L1 Expression in Tumor Cells
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Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis
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病院総合診療医の診療対象になりうる新しい成人発症自己炎症性疾患 : VEXAS症候群
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原発性免疫不全症の実態調査及び新規治療法の開発
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炎症性腸疾患の患者に対しNUDT15遺伝子多型に関連するチオプリン不耐症例をより正確に判別する方法の確立
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眼窩内海綿状血管奇形における新規関連遺伝子変異の同定と機能解析
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Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas
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無巨核球性血小板減少症を伴う橈尺骨癒合症のモデルマウス作製と病態解析
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原発性膠芽腫におけるTERTプロモーター領域遺伝子変異の臨床的・病理学的意義
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原因不明のSilver-Russell症候群患者における遺伝学的原因の解明
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Serological Cytokine Signature in Paediatric Patients with Inflammatory Bowel Disease Impacts Diagnosis