Lv5
1520 积分 2025-04-03 加入
[Analysis of PHEX gene mutation in a hypophosphatasia pedigree]
5天前
已完结
Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome
6天前
已完结
ABCC8 variants in MODY12: Review of the literature and report of a case with severe complications
15天前
已完结
INTS11-related neurodevelopmental disorder: a case report and literature review
19天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
20天前
已关闭
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
20天前
已完结
A novel deep intronic variant in the DMD gene causes Duchenne muscular dystrophy by pseudoexon activation encoding a nonsense codon
27天前
已完结
Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency
28天前
已完结
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity
1个月前
已完结
Ocular findings and genetic test in Alström syndrome in childhood
1个月前
已完结
Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan
1个月前
已采纳
Therapeutic Potential of White Kidney Beans (Phaseolus vulgaris) for Weight Management
1个月前
已采纳
Transparent Wood and Bamboo for Next-Generation Flexible Electronics: A Review
2个月前
已采纳
成人隐匿性自身免疫性糖尿病的遗传背景及免疫特性研究进展
2个月前
已采纳
Lactylome-based investigation of osteoarthritic subchondral bone reveals cell-specific differential expression of histone H4K12 lactylation: an experimental study
3个月前
已采纳
Principles and approaches for the machining simulation of ceramic matrix composites at microscale: A review and outlook
4个月前
已采纳
Altered Reward Circuit Function Moderates the Relationship between Childhood Maltreatment and Depression Severity in Adolescents
4个月前
已采纳
Phytohormones in a universe of regulatory metabolites: lessons from jasmonate
4个月前
已采纳
Additive manufacturing of polymer derived ceramics: Materials, methods, and applications
4个月前
已采纳
Reaction mechanism between carbon and CaO–SiO2–Al2O3–Na2O slag system during continuous casting process
4个月前
已采纳
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