Lv5
948 积分 2024-10-03 加入
Lymphatic plastic bronchitis
7天前
已完结
A Further Case Supporting CCNK as a Neurodevelopmental Disease Gene
8天前
已完结
Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2
8天前
已完结
A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy
13天前
已完结
Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis
19天前
已关闭
Case 342: IgG4-related Hypertrophic Pachymeningitis
22天前
已完结
A Patient With Proteinuria, Myalgias, and Decreased Pigmentation of Facial Skin
22天前
已完结
Non-immune hydrops fetalis caused by Diamond-Blackfan anaemia and a mutation of the RPL15 gene
22天前
已完结
A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis
1个月前
已完结
Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic BMPER Mutation
1个月前
已完结
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