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

Lithuanian Study on COL4A3 and COL4A4 Genetic Variants in Alport Syndrome: Clinical Characterization of 52 Individuals from 38 Families

立陶宛关于COL4A3和COL4A4基因变异与阿尔波特综合征的研究:来自38个家庭的52名个体的临床特征分析

Cerkauskaite-Kerpauskiene, Agne; Navickaite, Milda; Savige, Judy; Mazur, Gabija; Brazdziunaite, Deimante; Azukaitis, Karolis; Slazaite, Gerda; Laurinavicius, Arvydas; Miglinas, Marius; Vainutiene, Vija; Strupaite-Sileikiene, Rasa; Misevice, Ausrine; Mickeviciene, Vaiva; Cerkauskiene, Rimante

Variable Phenotypic Expression of PAX2 Variants in Two Lithuanian Families with Kidney Disease.

立陶宛两个肾病家族中 PAX2 变异体的表型表达差异

Brazdziunaite Deimante, Mazur Gabija, Miglinas Marius, Utkus Algirdas

A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects

一名患有发育迟缓和先天缺陷的女孩被诊断为新生8q22.2q22.3间质微缺失

Kalinauskiene, Ruta; Brazdziunaite, Deimante; Burokiene, Neringa; Dirsė, Vaidas; Morkuniene, Ausra; Utkus, Algirdas; Preiksaitiene, Egle