「Genetic analysis of pheochromocytoma and paraganglioma complicating cyanotic congenital heart disease」の関連論文
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20番染色体母性片親性ダイソミーの臨床像および内分泌的特徴の解明
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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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Integrated genomic/epigenomic analysis of sub-types and their cellular origin in clear cell ovarian carcinomas
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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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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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Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis
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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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ヒトゲノムにおけるスプライス部位形成変異の発生と遺伝性疾患への関与
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Micro RNA-10a in pancreatic juice revealed to be a malignant marker for intraductal papillary mucinous neoplasms
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Molecular pathways for development of multiple subtypes of intraductal papillary mucinous neoplasm of the pancreas
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Investigation of OLIG2 as a candidate gene for schizophrenia and autism spectrum disorder
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Quantitative monitoring of circulating tumor DNA in patients with advanced pancreatic cancer undergoing chemotherapy
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A Clinicopathological Study of Metachronous Anaplastic Carcinoma Transformed from Recurrent Papillary Thyroid Carcinoma
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Ependymoma-like tumors with mesenchymal differentiation harboring C11orf95-NCOA1/2 or -RELA fusion: a hitherto unclassified tumor related to ependymoma
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X染色体不活化解析によるヒト初期胚における染色体異数性レスキューのタイミングの解明
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ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features
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エクソーム解析データに基づく孤発性アルツハイマー病関連遺伝子の探索
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Activation of PPARγ in bladder cancer via introduction of the long arm of human chromosome 9
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視床高悪性度神経膠腫摘出例におけるヒストン変異およびTERT promoter変異と生存予後に関する研究
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Rare single-nucleotide DAB1 variants and their contribution to Schizophrenia and autism spectrum disorder susceptibility
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男児外性器皮膚線維芽細胞におけるアンドロゲン標的候補遺伝子の探索
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Prognostic role of the innate immune signature CD163 and
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忘れられない一枚の心電図 : カルモジュリン病
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補体関連疾患におけるCFH/CFHR gene cluster内の融合遺伝子の検出
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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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Prognostic role of the innate immune signature CD163 and
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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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Long noncoding RNA profile of the intracranial artery in patients with moyamoya disease
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Human chromosome 3p21.3 carries TERT transcriptional regulators in pancreatic cancer
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Unique miRNA profiling of squamous cell carcinoma arising from ovarian mature teratoma: comprehensive miRNA sequence analysis of its molecular background
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胃癌におけるSWI/SNF複合体異常及び免疫回避機構関連因子の検討
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A New Treatment Strategy for Pulmonary Fibrosis Targeting the Bone Morphogenetic Protein Pathway, and the Importance of Radiological Pattern for Selecting Candidates for Receiving a New Treatment for Pulmonary Fibrosis
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Clinicopathological and molecular characteristics of endometrial neuroendocrine carcinomas reveal preexisting endometrial carcinoma origin
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PRKN遺伝子変異患者における分子遺伝学的多様性および神経病理学的特徴
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慢性骨髄性白血病における血中循環腫瘍 DNA を用いた全エクソームシークエンスの臨床的有用性の検討
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膵癌における腹腔洗浄液を用いたリキッドバイオプシーの臨床的有用性の検討
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Analysis of genetic risk factors in Japanese patients with Parkinson’s disease
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Analysis of genetic risk factors in Japanese patients with Parkinson’s disease
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大腸癌の抗EGFR抗体薬感受性に関与するDNAメチル化異常と遺伝子発現の関連性
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<学会抄録>第70回日本泌尿器科学会中部総会
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Reliability of IDH1-R132H and ATRX and/or p53 immunohistochemistry for molecular subclassification of Grade 2/3 gliomas
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マルファン症候群の大動脈におけるマクロファージの関与、および遺伝子型と臨床像の解析
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The ELEANOR noncoding RNA expression contributes to cancer dormancy and predicts late recurrence of estrogen receptor-positive breast cancer
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Identification of the new gene causing cerebellar ataxia and investigation of pathogenic mechanism
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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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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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肺腺癌におけるOvarian cancer immuno-reactive antigen domain containing 2 (OCIAD2) 発現の臨床病理学的意義および機能解析
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マルファン類縁疾患における遺伝子コピー数多型の関与についての検討
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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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ゲノム構造変化による感音難聴の発症メカニズムの解明に関する研究