Lv53
1090 积分 2024-11-08 加入
Small nuclear RNA genes in Mendelian disorders
7天前
已完结
Partial duplication of 4q12q13 leads to a mild phenotype
17天前
已完结
Spectrum of DMD gene mutations in 507 patients: a retrospective genotype-phenotype study using next-generation sequencing
19天前
已完结
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy
26天前
已完结
Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots
27天前
已完结
Profile of patients with Brugada syndrome presenting with their first documented arrhythmic event: Data from the Survey on Arrhythmic Events in BRUgada Syndrome (SABRUS)
29天前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
1个月前
已完结
Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion
1个月前
已完结
Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience
2个月前
已完结
Pituitary stalk interruption syndrome due to novel ROBO1 mutation presenting as combined pituitary hormone deficiency and central diabetes insipidus
2个月前
已完结
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