Lv31
270 积分 2025-05-17 加入
Global Adrenal Insufficiency in Two Independent Patients Carrying the Same Homozygous c.172A&gt;G, p.(Thr58Ala) Mutation in the <i>TBX19</i> Gene
28分钟前
求助中
Genetic diagnosis of familial hypercholesterolemia in Han Chinese
4天前
已完结
Next‐generation sequencing of uveal melanoma with clinical and histological correlations: Prognostic value of new mutations in the PI3K/AKT/mTOR pathway
7天前
已完结
Genetic instability and hematologic disease risk in Werner syndrome patients and heterozygotes
8天前
已完结
Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum
21天前
已关闭
Heterozygous Lipoprotein Lipase Deficiency
22天前
已关闭
SDHD Immunohistochemistry: A New Tool to ValidateSDHxMutations in Pheochromocytoma/Paraganglioma
28天前
已完结
A five-basepair deletion (7118 delTTTTA) identified within neurofibromatosis (NF1) exon 39
29天前
已完结
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 ( NF1 ) gene in neurofibromatosis patients with benign and malignant tumors
29天前
已关闭
A novel variant of the KIF11 gene, c.2922G>T, is associated with Microcephaly by affecting RNA splicing
30天前
已完结
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