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Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome. (2015) Hum Reprod
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Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome. (2015) Hum Reprod, IF=4.729 (國立台灣大學醫學院附設醫院陳沛隆醫師)
 
使用者陳沛隆醫師發表期刊論文,第一型的子宮與生殖系統發育不全症(MRKH)的婦女,透過外顯子次世代定序實驗與單核酸多型性基因陣列實驗的方法,找出如OR4M4PDE11A和若干人類基因體上的位點出現功能喪失或變異將會造成此病的主要原因。在未來可用此種篩檢技術,可提供臨床檢測之用。 
  

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