Lv51
1100 积分 2023-08-09 加入
Clinical characteristics and genetic profile of children with WDR72-associated distal renal tubular acidosis: a nationwide experience
23天前
已完结
Multiple system atrophy
24天前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
1个月前
已完结
X-linked osteogenesis imperfecta accompanied by patent ductus arteriosus: a case with a novel splice variant in PLS3
2个月前
已完结
PLS3 whole gene deletion as a cause of X-linked osteoporosis: Clinical report with review of published PLS3 literature
2个月前
已关闭
Functional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia
2个月前
已完结
A severe ABCC6‐induced generalized arterial calcification of infancy overshadowed by the EGFR‐associated neonatal inflammatory skin and bowel disease 2 in a Roma girl
2个月前
已完结
Clinical and genetic characterization of CACNA1A‐related disease
5个月前
已完结
Advances in Pompe Disease Treatment: From Enzyme Replacement to Gene Therapy
5个月前
已完结
Chromatin gatekeeper and modifier CHD proteins in development, and in autism and other neurological disorders
5个月前
已完结
房颤合并稳定型冠心病的治疗：长期单一抗凝还是联合抗血小板？
2年前
已采纳
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