Lv5
1168 积分 2025-01-14 加入
Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics
12天前
已完结
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
22天前
已完结
CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients
22天前
已关闭
Identification of CFTR, PRSS1, and SPINK1 Mutations in 381 Patients With Pancreatitis
22天前
已完结
X‐Linked Bilateral Polymicrogyria With Epilepsy and Intellectual Disability Associated With a Novel KIF4A Variant
2个月前
已完结
Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family
2个月前
已完结
A systematic description of MLL fusion gene formation
2个月前
已完结
Developmental genetic determinants of the human cerebrospinal fluid-ventricular system
2个月前
已完结
Mutational landscape of primary spinal cord astrocytoma
2个月前
已完结
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