Lv42
720 积分 2023-08-09 加入
Mosaicism for a 15q11.2 microduplication with a normal euploid cell line at amniocentesis in a pregnancy with a favorable fetal outcome and postnatal decrease of the aneuploid cell line with the microduplication
2个月前
已完结
Seizure course of PCDH19 clustering epilepsy in female children: A multicentre cohort study in China
2个月前
已完结
Phenotypic and Genotypic Characteristics of Children with PCDH19 Clustering Epilepsy in China
2个月前
已关闭
PCDH19-Related Epilepsies
2个月前
已关闭
Next generation sequencing for diagnosis of hereditary anemia: Experience in a Spanish reference center
3个月前
已完结
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants
3个月前
已完结
Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease
7个月前
已关闭
Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects
7个月前
已完结
A Patient with Late-Onset Cerebellar Ataxia and a Novel FAT2 Gene Variant Concerning for Spinocerebellar Ataxia Type 45: A Case Report (P9-11.009)
7个月前
已关闭
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？
1年前
已采纳
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