uniparental disomy

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1
lpin1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy
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2
Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity.
Xiao, Bing;Wang, Lili;Liu, Huili;Fan, Yanjie;Xu, Yan;Sun, Yu;Qiu, Wenjuan;
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prenatal diagnosis of mosaic small supernumerary marker chromosome 17 associated with ventricular septal defect, developmental delay, and speech delay
;Chih-Ping Chen;Sheng Chiang;Kung-Liahng Wang;Fu-Nan Cho;Ming Chen;Schu-Rern Chern;Peih-Shan Wu;Yen-...
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mosaic trisomy 7 at amniocentesis: prenatal diagnosis and molecular genetic analyses
;Chih-Ping Chen;Yi-Ning Su;Schu-Rern Chern;Yuh-Ming Hwu;Shuan-Pei Lin;Chyong-Hsin Hsu;Fuu-Jen Tsai;T...
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