Lv11
90 积分 2021-10-09 加入
Phenotypic variability of a TREX1 variant in Aicardi-Goutieres type 1 patients from the Indian subcontinent
8天前
已完结
Kazal 5型丝氨酸蛋白酶抑制剂基因突变致新生儿Netherton综合征一例并文献复习
29天前
已完结
Early alloimmunization in an infant to red cell antigens—Rare but possible in the ‘right’ circumstances
1个月前
已完结
Novel and Recurrent Epidermolysis Bullosa-Causing Variants in Families from Saudi Arabia
1个月前
已关闭
Mutational analysis of ATP7B in north Chinese patients with Wilson disease
1个月前
已完结
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late‐onset multiple acyl‐CoA dehydrogenase deficiency
1个月前
已完结
Structures of sperm flagellar doublet microtubules expand the genetic spectrum of male infertility
2个月前
已完结
Clinical feature, GALC variant spectrum, and genotype–phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years
2个月前
已完结
成人原发噬血细胞性淋巴组织细胞增多症合并干燥综合征一例
2个月前
已完结
儿童EB病毒相关性噬血性淋巴组织细胞增生症的临床特征及相关基因缺陷
2个月前
已完结
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