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

Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy

LRP2基因的变体编码一种多功能细胞表面内吞受体,与听力损失和视网膜营养不良有关。

Faridi, Rabia; Yousaf, Rizwan; Gu, Shoujun; Inagaki, Sayaka; Turriff, Amy E; Pelstring, Keith; Guan, Bin; Naik, Amelia; Griffith, Andrew J; Adadey, Samuel Mawuli; Aboagye, Elvis Twumasi; Awandare, Gordon A; Morell, Robert J; Tsilou, Ekaterini; Noyes, Amanda G; Sulmonte, Laura A G; Wonkam, Ambroise; Schrauwen, Isabelle; Leal, Suzanne M; Azaiez, Hela; Brewer, Carmen C; Riazuddin, Sheikh; Hufnagel, Robert B; Hoa, Michael; Zein, Wadih M; de Dios, J Karl; Friedman, Thomas B

DASH, the data and specimen hub of the National Institute of Child Health and Human Development

DASH,美国国立儿童健康与人类发育研究所的数据和样本中心

Hazra, Rohan; Tenney, Susan; Shlionskaya, Alexandra; Samavedam, Rajni; Baxter, Kristin; Ilekis, John; Weck, Jennifer; Willinger, Marian; Grave, Gilman; Tsilou, Katerina; Songco, David

Inclusion of pregnant and breastfeeding women in research - efforts and initiatives

将孕妇和哺乳期妇女纳入研究——相关努力和举措

Illamola, Sílvia M; Bucci-Rechtweg, Christina; Costantine, Maged M; Tsilou, Ekaterini; Sherwin, Catherine M; Zajicek, Anne

Placental origins of adverse pregnancy outcomes: potential molecular targets: an Executive Workshop Summary of the Eunice Kennedy Shriver National Institute of Child Health and Human Development

胎盘因素导致不良妊娠结局:潜在的分子靶点:尤尼斯·肯尼迪·施莱佛国家儿童健康与人类发育研究所执行研讨会总结

Ilekis, John V; Tsilou, Ekaterini; Fisher, Susan; Abrahams, Vikki M; Soares, Michael J; Cross, James C; Zamudio, Stacy; Illsley, Nicholas P; Myatt, Leslie; Colvis, Christine; Costantine, Maged M; Haas, David M; Sadovsky, Yoel; Weiner, Carl; Rytting, Erik; Bidwell, Gene

Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage

着色性干皮病眼部表现:长期随访凸显DNA修复在抵御日光损伤中的作用

Brooks, Brian P; Thompson, Amy H; Bishop, Rachel J; Clayton, Janine A; Chan, Chi-Chao; Tsilou, Ekaterini T; Zein, Wadih M; Tamura, Deborah; Khan, Sikandar G; Ueda, Takahiro; Boyle, Jennifer; Oh, Kyu-Seon; Imoto, Kyoko; Inui, Hiroki; Moriwaki, Shin-Ichi; Emmert, Steffen; Iliff, Nicholas T; Bradford, Porcia; Digiovanna, John J; Kraemer, Kenneth H

Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent

西班牙裔非波多黎各赫尔曼斯基-普德拉克综合征患者的临床、分子和细胞特征

Carmelo Carmona-Rivera, Gretchen Golas, Richard A Hess, Nicholas D Cardillo, Elijah H Martin, Kevin O'Brien, Ekaterini Tsilou, Bernadette R Gochuico, James G White, Marjan Huizing, William A Gahl

A 3-year randomized therapeutic trial of nitisinone in alkaptonuria

一项为期3年的尼替西酮治疗尿黑酸症的随机治疗试验

Introne, Wendy J; Perry, Monique B; Troendle, James; Tsilou, Ekaterini; Kayser, Michael A; Suwannarat, Pim; O'Brien, Kevin E; Bryant, Joy; Sachdev, Vandana; Reynolds, James C; Moylan, Elizabeth; Bernardini, Isa; Gahl, William A

Intrauterine growth retardation associated with precocious puberty and sertoli cell hyperplasia

宫内生长迟缓伴性早熟和支持细胞增生

Lodish, M B; Gartner, L A; Albini, P; Sabnis, G; Brodie, A; Meck, J M; Meloni-Ehrig, A M; Hill, S; Tsilou, E; Valera, V A; Walter, B A; Merino, M J; Stratakis, C A

Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1

切迪亚克-希加西综合征伴早期发育迟缓,由1号染色体父系异二体引起

Manoli, Irini; Golas, Gretchen; Westbroek, Wendy; Vilboux, Thierry; Markello, Thomas C; Introne, Wendy; Maynard, Dawn; Pederson, Ben; Tsilou, Ekaterini; Jordan, Michael B; Hart, P Suzanne; White, James G; Gahl, William A; Huizing, Marjan

Hermansky-Pudlak syndrome type 1 in patients of Indian descent

印度裔患者的 Hermansky-Pudlak 综合征 1 型

Vincent, Lisa M; Adams, David; Hess, Richard A; Ziegler, Shira G; Tsilou, Ekaterini; Golas, Gretchen; O'Brien, Kevin J; White, James G; Huizing, Marjan; Gahl, William A