Lv41
430 积分 2024-02-26 加入
Trochlear nerve agenesis in a patient with 18q22.2q23 deletion
3小时前
待确认
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases
22天前
已完结
Clinical and genetic analysis of two phenotypically normal families carrying 4p16.1 microduplications
1个月前
已完结
14q22.3 duplication including OTX2 in a girl with medulloblastoma: A case report with literature review
1个月前
已完结
Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D
1个月前
已关闭
Congenital heart defects in the recurrent 2q13 deletion syndrome
2个月前
已完结
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway
3个月前
已完结
Whole exome sequencing of fetal structural anomalies detected by ultrasonography
3个月前
已完结
Marfan Syndrome
3个月前
已完结
Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil
3个月前
已完结
皖公网安备34019202002308
