Lv1
58 积分 2025-03-06 加入
New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis
25天前
已完结
Bone health in SATB2‐associated syndrome: Results from a large prospective cohort and recommendations for surveillance
1个月前
已完结
Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5%
1个月前
已完结
Clinical exome sequencing in neuromuscular diseases: an experience from Turkey
3个月前
已完结
Fabry disease: D313Y is an α-galactosidase A sequence variant that causes pseudodeficient activity in plasma
4个月前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
4个月前
已完结
FSIP2 plays a role in the acrosome development during spermiogenesis
5个月前
已完结
Bringing light into the darkness: autosomal recessive cerebellar ataxia due to a recessive mutation in the SEPSECS gene
5个月前
已完结
Genotype–phenotype relations for episodic ataxia genes: MDSGene systematic review
6个月前
已完结
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