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86 积分 2024-10-14 加入
A Novel Mutation in the Transactivation-Regulating Domain of the Androgen Receptor in a Patient With Azoospermia
1天前
已完结
Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency
27天前
已完结
“Response to the letter to the editor “Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency””
27天前
已完结
RECQL4-related Rothmund-Thomson syndrome: A case series and literature review
28天前
已完结
Pralsetinib for RET fusion-positive non-small-cell lung cancer (ARROW): a multi-cohort, open-label, phase 1/2 study
29天前
已完结
Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex
1个月前
已完结
p.Ser891Ala RET gene mutations in medullary thyroid cancer: Phenotypical and genealogical characterization of 28 apparently unrelated kindreds and founder effect uncovering in Northern Italy
1个月前
已完结
Whole-exome sequencing confirmation of multiple MC1R variants associated with extensive freckles and red hair: Analysis of a Mongolian family
1个月前
已完结
Loss of Function Mutations of the Human Melanocortin 1 Receptor Are Common and Are Associated with Red Hair
1个月前
已完结
Modeling MC1R Rare Variants: A Structural Evaluation of Variants Detected in a Mediterranean Case–Control Study
1个月前
已完结
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