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

Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M)

西班牙肾性低尿酸血症患者的 SLC22A12(URAT1)和 SLC2A9(GLUT9)致病变异:SLC2A9 变异 c.374C>T 的创始效应;p.(T125M)

Ana Perdomo-Ramirez, Elizabeth Cordoba-Lanus, Carmen Jane Trujillo-Frias, Carolina Gonzalez-Navasa, Elena Ramos-Trujillo, Maria Isabel Luis-Yanes, Victor Garcia-Nieto, Felix Claverie-Martin; RenalTube

Nail-Patella syndrome with early onset end-stage renal disease in a child with a novel heterozygous missense mutation in the LMX1B homeodomain: A case report

一名患有 LMX1B 同源结构域新型杂合错义突变的儿童患有早发性终末期肾病的指甲-髌骨综合征:病例报告

Soledad Carinelli, Olalla Alvarez Blanco, Ana Perdomo-Ramirez, Felix Claverie-Martin

Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease

导致 Lowe 综合征或 Dent-2 病的外显子 OCRL 突变的剪接分析

Lorena Suarez-Artiles, Ana Perdomo-Ramirez, Elena Ramos-Trujillo, Felix Claverie-Martin