日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation

低磷酸血症:基于遗传学的疾病分类及基因型-表型相关性的新见解

Mornet, Etienne; Taillandier, Agnès; Domingues, Christelle; Dufour, Annika; Benaloun, Emmanuelle; Lavaud, Nicole; Wallon, Fabienne; Rousseau, Nathalie; Charle, Carole; Guberto, Mihelaiti; Muti, Christine; Simon-Bouy, Brigitte

A common African variant of human connexin 37 is associated with Caucasian primary ovarian insufficiency and has a deleterious effect in vitro

人类连接蛋白 37 的常见非洲变体与白种人原发性卵巢功能不全有关,并且在体外具有有害影响

Anne Bachelot, Jerome Gilleron, Geri Meduri, Mihelai Guberto, Jerome Dulon, Sylviane Boucherie, Philippe Touraine, Micheline Misrahi