Lv4
408 积分 2022-03-21 加入
Homozygous deletion of the DSG3 terminal exon associated with acantholytic blistering of the oral and laryngeal mucosa
3个月前
已完结
MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION
3个月前
已关闭
[Triploidy syndrome: a case report]
3个月前
已关闭
Molecular diagnose of a large hearing loss population from China by targeted genome sequencing
3个月前
已完结
The Complexity of Decisions in Genetics: Annotation of Three Novel Variants in the PKD1 and PKD2 Genes
3个月前
已关闭
Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency
4个月前
已完结
[Triploidy syndrome: a case report]
6个月前
已关闭
Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia
6个月前
已完结
[A case of XX/XXY Klinefelter syndrome]
6个月前
已关闭
Missense variant in SRCAP with distinct DNA methylation signature associated with non‐FLHS SRCAP‐related neurodevelopmental disorder
7个月前
已完结
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