Lv44
690 积分 2024-10-14 加入
A familial case of PDE10A‐associated childhood‐onset chorea with bilateral striatal lesions
21天前
已完结
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy
23天前
已完结
Defective piRNA Processing and Azoospermia
30天前
已完结
Genetic and phenotypic heterogeneity of multiple lentigines and precise diagnosis in four Chinese families with multiple lentigines
1个月前
已完结
Calmodulinopathy in Japanese Children ― Their Cardiac Phenotypes Are Severe and Show Early Onset in Fetal Life and Infancy ―
1个月前
已关闭
Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia
2个月前
已关闭
[Clinical and genetic analysis of a child with neonatal severe parathyroidism]
2个月前
已完结
The Case | A pregnant female with refractory hypocalcemia
3个月前
已完结
Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study
3个月前
已完结
[Clinical and genetic analysis of a child with neonatal severe parathyroidism]
3个月前
已完结
皖公网安备34019202002308
