Lv1
98 积分 2024-01-09 加入
Moniliform blepharosis in lipoid proteinosis with a homozygous ECM1 gene mutation
2天前
已完结
Major Histocompatibility Complex Class II Deficiency Complicated by Mycobacterium avium Complex in a Boy of Mixed Ethnicity
1个月前
已完结
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
1个月前
已完结
Dominant von Willebrand Disease Type 2M and 2U Are Variable Expressions of One Distinct Disease Entity Caused by Loss-of-Function Mutations in the A1 Domain of the von Willebrand Factor Gene
1个月前
已完结
Heterogeneity and uniqueness of ornithine aminotransferase mutations found in Japanese gyrate atrophy patients
1个月前
已完结
The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases
1个月前
已关闭
Severe eczema and Hyper-IgE in Loeys–Dietz-syndrome — Contribution to new findings of immune dysregulation in connective tissue disorders
1个月前
已完结
Variability of EEG‐fMRI findings in patients with SCN1A‐positive Dravet syndrome
1个月前
已完结
RYR1‐related myopathies: a wide spectrum of phenotypes throughout life
2个月前
已完结
Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation
2个月前
已完结
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