Lv31
340 积分 2024-05-17 加入
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140
2小时前
已完结
Monoallelic IFT140 Variants Causing Childhood-Onset Autosomal Dominant Polycystic Kidney Disease
2小时前
已完结
TMEM53 as an outer nuclear membrane regulator of cranial and tubular bone formation in craniotubular dysplasia
8天前
已关闭
[Clinical and genetic studies on 76 patients with hydrocephalus caused by methylmalonic acidemia combined with homocysteinuria]
16天前
已完结
NF1 single and multi-exons copy number variations in neurofibromatosis type 1
20天前
已完结
Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing
20天前
已完结
Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing
20天前
已完结
[Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities]
2个月前
已关闭
The Smallest Reported Distal 11q25 Deletion in Jacobsen Syndrome (JBS): Two Patients with Variable Phenotype
2个月前
已完结
COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management
2个月前
已完结
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