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36 积分 2025-11-25 加入
Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?
12天前
已完结
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement
13天前
已完结
Deletion and duplication screening in the DMD gene using MLPA
19天前
已完结
Split‐hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India
25天前
已完结
A novel PIEZO2 mutation in a fetus from a Chinese family with Gordon syndrome
1个月前
已完结
The best of both worlds: Blending cutting‐edge research with clinical processes for a productive exome clinic
2个月前
已完结
The genetic basis of clinically-suspected achromatopsia in the United Arab Emirates
3个月前
已完结
Chronic Budd–Chiari syndrome in paroxysmal nocturnal haemoglobinuria
4个月前
已完结
Primary Budd–Chiari Syndrome
4个月前
已完结
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