Lv11
96 积分 2023-01-05 加入
Haploinsufficiency of the HIRA gene may not always produce severe neurodevelopmental consequences
5小时前
求助中
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes
14天前
已完结
Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data
14天前
已完结
Congenital amegakaryocytic thrombocytopenia presenting with a new thrombopoietin receptor (MPL) pathogenic variant: An instructive neonatal case
15天前
已完结
Clinical presentation and follow-up of women affected by Brugada syndrome
15天前
已完结
Clinical presentation and follow-up of women affected by Brugada syndrome
15天前
已完结
Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children
21天前
已完结
Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development
1个月前
已完结
Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population
1个月前
已完结
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
1个月前
已完结
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