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

Gene Expression Analysis of HPRT-Deficient Cells Maintained with Physiological Levels of Folic Acid.

在生理水平叶酸条件下维持的HPRT缺陷细胞的基因表达分析

Torres Rosa J, Valentines-Casas Gerard, Cano-Estrada Claudia, Ontiveros Neus, López José M

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability

ATP1A3泵的阳离子泄漏会导致痉挛和智力障碍

Calame, Daniel G; Moreno Vadillo, Cristina; Berger, Seth; Lotze, Timothy; Shinawi, Marwan; Poupak, Javaher; Heller, Corina; Cohen, Julie; Person, Richard; Telegrafi, Aida; Phitsanuwong, Chalongchai; Fiala, Kaylene; Thiffault, Isabelle; Del Viso, Florencia; Zhou, Dihong; Fleming, Emily A; Pastinen, Tomi; Fatemi, Ali; Thomas, Sruthi; Pascual, Samuel I; Torres, Rosa J; Prior, Carmen; Gómez-González, Clara; Biskup, Saskia; Lupski, James R; Maric, Dragan; Holmgren, Miguel; Regier, Debra; Yano, Sho T

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

UMOD基因突变引起的常染色体显性遗传性肾小管间质性肾病患者终末期肾病年龄的遗传和临床预测因素

Kidd, Kendrah; Vylet'al, Petr; Schaeffer, Céline; Olinger, Eric; Živná, Martina; Hodaňová, Kateřina; Robins, Victoria; Johnson, Emily; Taylor, Abbigail; Martin, Lauren; Izzi, Claudia; Jorge, Sofia C; Calado, Joaquim; Torres, Rosa J; Lhotta, Karl; Steubl, Dominik; Gale, Daniel P; Gast, Christine; Gombos, Eva; Ainsworth, Hannah C; Chen, Ying Maggie; Almeida, Jorge Reis; de Souza, Cintia Fernandes; Silveira, Catarina; Raposeiro, Rita; Weller, Nelson; Conlon, Peter J; Murray, Susan L; Benson, Katherine A; Cavalleri, Gianpiero L; Votruba, Miroslav; Vrbacká, Alena; Amoroso, Antonio; Gianchino, Daniela; Caridi, Gianluca; Ghiggeri, Gian Marco; Divers, Jasmin; Scolari, Francesco; Devuyst, Olivier; Rampoldi, Luca; Kmoch, Stanislav; Bleyer, Anthony J

Macrocytic anemia in Lesch-Nyhan disease and its variants

Lesch-Nyhan 病及其变异型中的巨幼细胞性贫血

Cakmakli, Hasan F; Torres, Rosa J; Menendez, Araceli; Yalcin-Cakmakli, Gul; Porter, Christopher C; Puig, Juan Garcia; Jinnah, H A

Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder

神经遗传学中的基因型-表型相关性:以莱施-尼汉综合征为例

Fu, Rong; Ceballos-Picot, Irene; Torres, Rosa J; Larovere, Laura E; Yamada, Yasukazu; Nguyen, Khue V; Hegde, Madhuri; Visser, Jasper E; Schretlen, David J; Nyhan, William L; Puig, Juan G; O'Neill, Patrick J; Jinnah, H A

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

PRPS1综合征在女性中的表型扩展:神经病变、听力丧失和视网膜病变

Almoguera, Berta; He, Sijie; Corton, Marta; Fernandez-San Jose, Patricia; Blanco-Kelly, Fiona; López-Molina, Maria Isabel; García-Sandoval, Blanca; Del Val, Javier; Guo, Yiran; Tian, Lifeng; Liu, Xuanzhu; Guan, Liping; Torres, Rosa J; Puig, Juan G; Hakonarson, Hakon; Xu, Xun; Keating, Brendan; Ayuso, Carmen

Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013

莱施-尼汉综合征临床实用基因卡——2013年更新

Torres, Rosa J; Puig, Juan G; Ceballos-Picot, Irène

Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants

Lesch-Nyhan 病及其轻型变异株的表型谱最新进展

Torres, Rosa J; Puig, Juan G; Jinnah, H A

Clinical utility gene card for: Lesch-Nyhan syndrome

临床实用基因卡:莱施-尼汉综合征

Torres, Rosa J; Puig, Juan G; Ceballos-Picot, Irène

Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants

Lesch-Nyhan病及其变异型表型变异的机制

Sampat, Radhika; Fu, Rong; Larovere, Laura E; Torres, Rosa J; Ceballos-Picot, Irene; Fischbach, Michel; de Kremer, Raquel; Schretlen, David J; Puig, Juan Garcia; Jinnah, H A