Lv52
830 积分 2024-10-14 加入
A familial case of PDE10A‐associated childhood‐onset chorea with bilateral striatal lesions
1个月前
已完结
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy
1个月前
已完结
Defective piRNA Processing and Azoospermia
1个月前
已完结
Genetic and phenotypic heterogeneity of multiple lentigines and precise diagnosis in four Chinese families with multiple lentigines
2个月前
已完结
Calmodulinopathy in Japanese Children ― Their Cardiac Phenotypes Are Severe and Show Early Onset in Fetal Life and Infancy ―
2个月前
已关闭
Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia
3个月前
已关闭
[Clinical and genetic analysis of a child with neonatal severe parathyroidism]
3个月前
已完结
The Case | A pregnant female with refractory hypocalcemia
4个月前
已完结
Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study
4个月前
已完结
[Clinical and genetic analysis of a child with neonatal severe parathyroidism]
4个月前
已完结
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