Lv4
440 积分 2025-09-01 加入
The role of pathogenic TCF12 variants in children with coronal craniosynostosis-a systematic review with addition of two novel cases
1天前
待确认
Genetics Review: Joubert Syndrome
21天前
已关闭
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
28天前
已完结
A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas
1个月前
已完结
Expanding the phenotype and genotype of female GnRH deficiency
1个月前
已完结
The genetic landscape of infantile spasms
2个月前
已关闭
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
3个月前
已完结
Cystic fibrosis carrier screening in Australia: comparing sequencing and targeted panels across diverse ancestries
3个月前
已关闭
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