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Point-of-care whole-exome sequencing of idiopathic male infertility.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2018-11-01 , DOI: 10.1038/gim.2018.10
Khalid A Fakhro 1, 2 , Haitham Elbardisi 3 , Mohamed Arafa 3, 4 , Amal Robay 2 , Juan L Rodriguez-Flores 5 , Alya Al-Shakaki , Najeeb Syed , Jason G Mezey 5 , Charbel Abi Khalil , Joel A Malek , Abdulla Al-Ansari , Sami Al Said , Ronald G Crystal 5
Affiliation  

Nonobstructive azoospermia (NOA) affects 1% of the male population; however, despite state-of-the-art clinical assessment, for most patients the cause is unknown. We capitalized on an analysis of multiplex families in the Middle East to identify highly penetrant genetic causes.

中文翻译:

特发性男性不育症的床旁全外显子组测序。

非阻塞性无精子症 (NOA) 影响 1% 的男性;然而,尽管有最先进的临床评估,但对于大多数患者来说,原因尚不清楚。我们利用对中东多重家庭的分析来确定高度外显的遗传原因。
更新日期:2018-04-12
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