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A Unusual Case of Chondrodysplasia Punctata: An Intermediate Form between Tibia-Metacarpal Type and Humero-metacarpal Type

机译：点状软骨发育异常的异常情况：胫骨-掌骨型和肱骨-掌骨型之间的中间形式

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近藤恵里; 吉田眞; 山内あけみ; 斎藤加代子; 西村玄; 福嶋義光; 福山幸夫; Eri KONDO; Makoto YOSHIDA; Akemi YAMAUCHI; Kayoko SAITO; Gen MSHIMURA; Yoshimitsu FUKUSHIMA; Yukio FUKUYAMA;
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年度 1992
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原文格式 PDF
正文语种 ja
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1. Male siblings with tibia-metacarpal type of chondrodysplasia punctata without maternal factors. [J] . Honda R, Ichiyama T, Maeba S, Brain & Development . 2008,第4期

机译：胫骨-掌骨型软骨发育不良的男性同胞，无母体因素。
2. Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy. [J] . Wester U, Brandberg G, Larsson M, Prenatal Diagnosis . 2002,第8期

机译：点状软骨发育不良（CDP），具有胫骨-掌骨型特征，并在孕期进行母体苯妥英治疗。
3. Rhizomelic chondrodysplasia punctata (RCDP) type 2， RCDP type 3 [J] . 下澤伸行日本臨牀 . 2012,第别册a20期

机译：根茎软骨发育不良（RCDP）2型，RCDP 3型
4. UNUSUAL CONFORMATIONAL EQUILIBRIA IN A COMPLEX, SALICIN-TYPE GLYCOCONJUGATE [C] . Michal Hricovini, Milos Hricovini International Carbohydrate Symposium . 2018

机译：在复杂的Salicin型Glycoconjugate中不寻常的构象均衡
5. Characterizing unusual reactive intermediates with density functional theory: Mechanistic insights for clean energy technologies and organic transformations. [D] . Crandell, Douglas William. 2015

机译：用密度泛函理论表征不寻常的反应中间体：清洁能源技术和有机转化的机理见解。
6. Alkylglycerone phosphate synthase (AGPS) deficient mice: Models for rhizomelic chondrodysplasia punctata type 3 (RCDP3) malformation syndrome [O] . Ryan P. Liegel, Adam Ronchetti, D.J. Sidjanin 2014

机译：烷基甘油磷酸酯合酶（AGPS）缺陷小鼠：根状软骨发育不良点状3型（RCDP3）畸形综合征的模型
7. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform [O] . Tuva Barøy, Janet Koster, Petter Strømme, 2015

机译：一种新型的根茎蛋白软骨细胞普拉多，RCDP5是由PEX5长同种型的损失引起的

A Unusual Case of Chondrodysplasia Punctata: An Intermediate Form between Tibia-Metacarpal Type and Humero-metacarpal Type

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