Lv1
100 积分 2024-01-30 加入
A novel de novo frameshift variant in ZMYM2 expands the neuropsychiatric spectrum of NECRC syndrome: a case report
1个月前
已完结
Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome
1个月前
已完结
High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight
1个月前
已完结
Shifting the landscape: Dominant C‐terminal rare missense FOXL2 variants in non‐syndromic primary ovarian failure etiology
2个月前
已完结
Association of FOXL2 and ERCC6 variants with premature ovarian insufficiency and their potential use in clinical IVF guidance
2个月前
已完结
Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing
2个月前
已完结
Genetics and eye health: research advances and implications for primary eyecare
4个月前
已完结
Retrospective analysis of prenatal ultrasound of children with Pompe disease
4个月前
已关闭
Triple mosaic variants of PURA in a patient with multiple congenital anomalies
5个月前
已完结
Familial bilateral macronodular adrenal hyperplasia due to a novel ARMC 5 germline mutation: Clinical status and possible association with other neoplasms
5个月前
已完结
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