Lv4
406 积分 2025-03-03 加入
SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma
3小时前
已完结
A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma
3小时前
已完结
Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function
3小时前
已完结
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease
3小时前
已完结
GFAP variants leading to infantile Alexander disease: Phenotype and genotype analysis of 135 cases and report of a de novo variant
3小时前
已完结
Serial MRI changes in a patient with infantile Alexander disease and prolonged survival
3小时前
已完结
Muscle MRI in patients with long-chain fatty acid oxidation disorders
4小时前
已完结
Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations
4小时前
已完结
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1
5小时前
已完结
Disobind: A sequence-based, partner-dependent contact map and interface residue predictor for intrinsically disordered regions
1个月前
已完结
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