Lv5
920 积分 2024-11-08 加入
Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience
18天前
已完结
Pituitary stalk interruption syndrome due to novel ROBO1 mutation presenting as combined pituitary hormone deficiency and central diabetes insipidus
1个月前
已完结
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
1个月前
已关闭
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy
2个月前
已关闭
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation
2个月前
已关闭
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation
2个月前
已关闭
Inherited interstitial del(Xp) with minimal clinical consequences: With a note on the location of genes controlling phenotypic features
2个月前
已完结
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
2个月前
已完结
Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency
2个月前
已完结
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