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Search results 233

Spastinの機能解析と治療戦略

Spastinの機能解析と治療戦略
Paper図書
瀧山嘉久, 自治医科大学 [著][瀧山嘉久]2006-2007<Y151-H18590954>
National Diet Library
  • Subject HeadingHereditary Spastic Paraplegia / Spastin ...

遺伝性神経変性疾患(特に痙性対麻痺)におけるAAAファミリー蛋白の機能解析

遺伝性神経変性疾患(特に痙性対麻痺)におけるAAAファミリー蛋白の機能解析
Paper図書
瀧山嘉久, 自治医科大学 [著][瀧山嘉久]2003-2004<Y151-H15590903>
National Diet Library
  • Subject Headinghereditary spastic paraplegia / spastin ...

MPZ変異による軸索障害型CMTモデルマウスの作成と治療法の開発

MPZ変異による軸索障害型CMTモデルマウスの作成と治療法の開発
Paper図書
小池春樹, 名古屋大学 [著][小池春樹]2005-2006<Y151-H17590871>
National Diet Library
  • Subject HeadingCharcot-Marie-Tooth disease / hereditary neuropathy / myelin protein z...

内耳における電位依存性カリウムチャンネルの発現と遺伝性難聴 : 分子生物学的解析

内耳における電位依存性カリウムチャンネルの発現と遺伝性難聴 : 分子生物学的解析
Paper図書
菊地俊彦, 東北大学 [著][菊地俊彦]2002-2003<Y151-H14370546>
National Diet Library
  • Subject Heading...anglion cell / hereditary deafness

非可換付値環とその大域理論・量子群への応用

非可換付値環とその大域理論・量子群への応用
Paper図書
丸林, 英俊, 鳴門教育大学1997-2000<Y151-H09640044>
National Diet Library
  • Subject HeadingSemi-hereditary Jacobson radical Skew growp r...

Corneal dystrophies (Developments in ophthalmology ; vol. 48)

Corneal dystrophies (Developments in ophthalmology ; vol. 48)
Paper図書
volume editors, Walter Lisch, Berthold Seitz.Karger[2011]<SC641-B17>
National Diet LibraryOther Libraries in Japan
  • Subject HeadingCornea--Diseases--Genetic aspects. Corneal Dystrophies, Hereditary.

Japanese women's reasons for accompaniment status to Hereditary Breast and Ovarian Cancer-focused genetic counseling

Japanese women's reasons for accompaniment status to Hereditary Breast and Ovarian Cancer-focused genetic counseling
Digital博士論文障害者向け資料あり
Matsukawa, Manami2022-03-23
Available onlineNational Diet LibraryOther Libraries in Japan
  • Subject Headinggenetic counseling qualitative analysis companion hereditary breast and ovarian cancer
  • Note (General)...ment status to hereditary breast and ovarian cancer-foc...

Altered features of monocytes in adult onset leukoencephalopathy with axonal spheroids and pigmented glia: A clue to the pathomechanism of microglial dyshomeostasis

Altered features of monocytes in adult onset leukoencephalopathy with axonal spheroids and pigmented glia: A clue to the pathomechanism of microglial dyshomeostasis
Digital博士論文障害者向け資料あり
Hamatani, Mio2020-09-23
Available onlineNational Diet LibraryOther Libraries in Japan
  • Subject HeadingHereditary leukodystrophy Neuroimmunolog...

Pluripotent stem cell-based screening identifies CUDC-907 as an effective compound for restoring the in vitro phenotype of Nakajo-Nishimura syndrome

Pluripotent stem cell-based screening identifies CUDC-907 as an effective compound for restoring the in vitro phenotype of Nakajo-Nishimura syndrome
Digital博士論文障害者向け資料あり
Kase, Naoya2023-03-23
Available onlineNational Diet LibraryOther Libraries in Japan
  • Subject Headingchemokines hereditary autoinflammatory diseases hig...

Analysis of opossum kidney NaPi-IIc sodium-dependent phosphate transporter to understand Pi handling in human kidney 23 3

Analysis of opossum kidney NaPi-IIc sodium-dependent phosphate transporter to understand Pi handling in human kidney 23 3
Digital博士論文障害者向け資料あり
Fujii, Toru, Shiozaki, Yuji, Segawa, Hiroko, Nishiguchi, Shiori, Hanazaki, Ai, Noguchi, Miwa, Kirino, Ruri, Sasaki, Sumire, Tanifuji, Kazuya, Koike, Megumi, Yokoyama, Mizuki, Arima, Yuki, Kaneko, Ichiro, Tatsumi, Sawako, Ito, Mikiko, Miyamoto, Ken-ichiJapanese Society of Nephrology|Springer2018-10-13Clinical and Experimental Nephrology
National Diet Library
  • Subject HeadingPhosphate Transporter Proximal tubule Hereditary hypophosphatemic rickets with...
  • Note (General)...lly clarified. Hereditary hypophosphatemic rickets with...

Elderly-onset hereditary pulmonary alveolar proteinosis and its cytokine profile

Elderly-onset hereditary pulmonary alveolar proteinosis and its cytokine profile
Digital博士論文障害者向け資料あり
Ito, Masayuki新潟大学2019-03-15
National Diet Library
  • Subject HeadingHereditary pulmonary alveolar proteinosi...
  • Note (General)...ause pediatric hereditary PAP. We report...... elderly-onset hereditary (h) PAP.Case presentation: Th...
  • Alternative TitleElderly-onset hereditary pulmonary alveolar proteinosi...

A geometric study of Dynkin quiver type quantum affine Schur-Weyl duality

A geometric study of Dynkin quiver type quantum affine Schur-Weyl duality
Digital博士論文障害者向け資料あり
Fujita, Ryo2019-03-25
Available onlineNational Diet LibraryOther Libraries in Japan
  • Subject Heading...y affine quasi-hereditary algebra

日本におけるシャルコーマリートゥース病2F及び遺伝性運動ニューロパチー2Bの臨床的ならびに遺伝学的特徴 23 1

日本におけるシャルコーマリートゥース病2F及び遺伝性運動ニューロパチー2Bの臨床的ならびに遺伝学的特徴 23 1
Digital博士論文障害者向け資料あり
田邊, 肇Wiley2018Journal of the Peripheral Nervous System
National Diet Library
  • Subject Heading...ease 2F distal hereditary motor neuropathy 2B next-gene...
  • Note (General)... 2F and distal hereditary motor neuropat......ed with distal hereditary motor neuropathy type 2B. P39...
  • Alternative Title...disease 2F and hereditary motor neuropathy 2B in Japan

遺伝性末梢神経障害におけるPMP-22遺伝子の異常と発症メカニズムの検討

遺伝性末梢神経障害におけるPMP-22遺伝子の異常と発症メカニズムの検討
Paper図書
由村健夫, 九州大学1994-1995<Y151-H06670657>
National Diet Library
  • Subject Heading...32 connexin 43 hereditary neuropathy with liability to ...

The metabolic & molecular bases of inherited disease / editors, Charles R. Scriver ... [et al.]. 8th ed.

The metabolic & molecular bases of inherited disease / editors, Charles R. Scriver ... [et al.]. 8th ed.
Paper図書
McGraw-Hillc2001.<X>
National Diet Library
  • Subject Heading...gy, Molecular. Hereditary Diseases. Metabolic Diseases....

日本人BRCA1/2変異キャリアにおける乳癌発生にALDH2 rs671変異は影響を与えない

日本人BRCA1/2変異キャリアにおける乳癌発生にALDH2 rs671変異は影響を与えない
Digital博士論文
森, 智治Kyoto University2024-05-23
Available onlineOther Libraries in Japan
  • Subject HeadingHereditary breast and ovarian cancer Fan...

Cytotoxicity of amyloid fibrils derived from hen lysozyme with different properties on SH-SY5Y and cytoprotective effect of prunus mume extracts

Cytotoxicity of amyloid fibrils derived from hen lysozyme with different properties on SH-SY5Y and cytoprotective effect of prunus mume extracts
Digital文書・図像類
Ryohei KONO, Sachiko NOMURA, Yoshiharu OKUNO, Tomoko UTSUNOMIYA, Hirotoshi UTSUNOMIYA大阪河﨑リハビリテーション大学2020-12COGNITION & REHABILITATION1 1p.20-26
Other Libraries in Japan
  • Subject HeadingHen lysozyme Protein misfolding Dementia Hereditary lysozyme amyloidosis

Molecular medicine : novel findings of gene diagnosis, regulation of gene expression, and gene therapy : proceedings of the Second Meeting of the Hirosaki International Forum of Medical Science, Hirosaki, Japan, 7 July 1998 / editors, Isao Hashimoto ... [et al.]. 1st ed. (International congress series ; no. 1172)

Molecular medicine : novel findings of gene diagnosis, regulation of gene expression, and gene therapy : proceedings of the Second Meeting of the Hirosaki International Forum of Medical Science, Hirosaki, Japan, 7 July 1998 / editors, Isao Hashimoto ... [et al.]. 1st ed. (International congress series ; no. 1172)
Paper図書
Elsevier1999.<M18-A633>
National Diet Library
  • Subject Heading...-- Congresses. Hereditary Diseases -- di......-- Congresses. Hereditary Diseases -- genetics -- Congr...

Analysis of opossum kidney NaPi-IIc sodium-dependent phosphate transporter to understand Pi handling in human kidney

Analysis of opossum kidney NaPi-IIc sodium-dependent phosphate transporter to understand Pi handling in human kidney
Digital博士論文
藤井, 公, 塩﨑, 雄治, 瀬川, 博子, ニシグチ, シオリ, ハナザキ, アイ, ノグチ, ミワ, キリノ, ルリ, ササキ, スミレ, タニフジ, カズヤ, コイケ, メグミ, ヨコヤマ, ミズキ, アリマ, ユウキ, 金子, 一郎, 辰巳, 佐和子, イトウ, ミキコ, 宮本, 賢一Japanese Society of Nephrology2018-10-13Clinical and Experimental Nephrology23 3p.313-324
Available onlineOther Libraries in Japan
  • Summary, etc....lly clarified. Hereditary hypophosphatemic rickets with...
  • Subject HeadingPhosphate Transporter Proximal tubule Hereditary hypophosphatemic rickets with...

Winter School on Koszul Algebra and Koszul Duality

Winter School on Koszul Algebra and Koszul Duality
Digital文書・図像類
Chan, Aaron, Kanda, Ryo, Minamoto, Hiroyuki, Miyachi, HyoheOsaka Central Advanced Mathematical Institute(OCAMI) Osaka Metropolitan University2022OCAMI Reports 20223p.ii-156
Other Libraries in Japan
  • Subject Heading... duality quasi-hereditary algebra Koszul space