Lv2
178 积分 2024-03-06 加入
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
24天前
已完结
The Clinical and Molecular Spectrum of Patients With X-Linked Intellectual Disability and Novel Variations in Different Genes
1个月前
已完结
Hypoparathyroidism Associated with Benign Thyroid Nodules in DiGeorge-like Syndrome: A Rare Case Report and Literature Review
1个月前
已完结
EVALUATION OF MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION AS A TOOL FOR DIAGNOSIS AND CARRIER DETECTION IN FAMILIES WITH A DYSTROPHINOPATHY
1个月前
已关闭
Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism
1个月前
已完结
Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature
1个月前
已完结
[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease]
2个月前
已完结
[The application value of whole exome sequencing technology in diagnosis of hereditary renal cysts]
2个月前
已完结
The Malmö International Brother Study (MIBS). Genetic defects and inhibitor development in siblings with severe hemophilia A
4个月前
已关闭
[Triploidy syndrome: a case report]
4个月前
已关闭
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