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

Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy

LAMB1基因双等位基因变异导致脑积水:一种罕见畸形性脑病的严重表型

Sen, Kuntal; Kaur, Shagun; Stockton, David W; Nyhuis, Mary; Roberson, Jacquelyn

A novel SERPINA1 mutation causing serum alpha(1)-antitrypsin deficiency.

一种导致血清α(1)-抗胰蛋白酶缺乏的新型SERPINA1突变

Saunders Darren N, Tindall Elizabeth A, Shearer Robert F, Roberson Jacquelyn, Decker Amy, Wilson Jean Amos, Hayes Vanessa M