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静jing
Lv1
10 积分
2021-11-22 加入
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Genetically and Clinically Confirmed Atypical Cerebrotendinous Xanthomatosis with Normal Cholestanol and Marked Elevations of Bile Acid Precursors and Bile Alcohols
1天前
已完结
Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy
1天前
已完结
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
2天前
已关闭
High cumulative risks of cancer in patients withPTENhamartoma tumour syndrome
7天前
已完结
A series of Polish patients with congenital fibrinogen disorders: 2 new mutations in fibrinogen gamma chain, Fibrinogen Kostrzyn and Fibrinogen Łódź II
19天前
已完结
Variants in genes coding for collagen type IV α-chains are frequent causes of persistent, isolated hematuria during childhood
19天前
已完结
A functional link between lariat debranching enzyme and the intron-binding complex is defective in non-photosensitive trichothiodystrophy
26天前
已完结
"Brittle" Hair With Short Stature, Intellectual Impairment and Decreased Fertility: An Autosomal Recessive Syndrome in an Amish Kindred
26天前
已完结
Patterns of deletions and the distribution of breakpoints in the dystrophin gene in Czech patients with Duchenne and Becker muscular dystrophy (statistical comparison with results from several other countries)
30天前
已关闭
Genetic findings in patients with primary fibrotic atrial cardiomyopathy
1个月前
已完结
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