Lv639
2300 积分 2025-05-15 加入
[Transient infantile hypertriglyceridemia caused by GPD1 deficiency: report of two cases and literature review]
11小时前
已完结
Mutational analysis ofPMP22, MPZ, GJB1, EGR2 andNEFL in Korean Charcot-Marie-Tooth neuropathy patients
1天前
已完结
Fetal hydrops caused by a novel pathogenic MECOM variant
20天前
已完结
A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations
24天前
已完结
Molecular and haematological characterisation of haemolytic anaemia associated with biallelic KLF1 mutations: a case series
28天前
已完结
[Increased sensitivity for detection of mutations in exon 15 of the APC gene in patients with familial adenomatous polyposis]
2个月前
已关闭
Hereditary thrombocytopenia with platelet sialic acid deficiency and mutations in the GNE genes
2个月前
已完结
Novel biallelic mutations in PADI6 in patients with early embryonic arrest
2个月前
已完结
Small nuclear RNA genes in Mendelian disorders
3个月前
已完结
Four pedigrees with aminoacyl-tRNA synthetase abnormalities
3个月前
已完结
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