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

Food and water intake are regulated by distinct central amygdala circuits revealed using intersectional genetics.

利用交叉遗传学研究发现,食物和水的摄入量是由不同的中央杏仁核回路调节的

Fermani Federica, Chang Simon, Mastrodicasa Ylenia, Peters Christian, Gaitanos Louise, Alcala Morales Pilar L, Ramakrishnan Charu, Deisseroth Karl, Klein Rüdiger

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy

第八届国际RAS病研讨会:通过全球合作与倡导拓展研究和治疗实践

Pierpont, Elizabeth I; Bennett, Anton M; Schoyer, Lisa; Stronach, Beth; Anschutz, April; Borrie, Sarah C; Briggs, Benjamin; Burkitt-Wright, Emma; Castel, Pau; Cirstea, Ion C; Draaisma, Fieke; Ellis, Michelle; Fear, Vanessa S; Frone, Megan N; Flex, Elisabetta; Gelb, Bruce D; Green, Tamar; Gripp, Karen W; Khoshkhoo, Sattar; Kieran, Mark W; Kleemann, Karolin; Klein-Tasman, Bonita P; Kontaridis, Maria I; Kruszka, Paul; Leoni, Chiara; Liu, Clifford Z; Merchant, Nadia; Magoulas, Pilar L; Moertel, Christopher; Prada, Carlos E; Rauen, Katherine A; Roelofs, Renée; Rossignol, Rodrigue; Sevilla, Christine; Sevilla, Gigi; Sheedy, Ryan; Stieglitz, Elliot; Sun, Daochun; Tiemens, Dagmar; White, Forest; Wingbermühle, Ellen; Wolf, Cordula; Zenker, Martin; Andelfinger, Gregor

Barriers to a successful healthcare transition for individuals with urea cycle disorders

尿素循环障碍患者成功过渡到医疗保健体系的障碍

Ladha, Farah A; Le Mons, Cynthia; Craigen, William J; Magoulas, Pilar L; Marom, Ronit; Lewis, Andrea M

The cascade screening in heritable forms of pulmonary arterial hypertension

遗传性肺动脉高压的级联筛查

Varghese, Nidhy P; Padhye, Akhilesh A; Magoulas, Pilar L; Mallory, George B; Ruiz, Fadel E; Sahay, Sandeep

The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery

第七届国际RAS病研讨会:通往治愈之路——拓展知识、加强研究、促进治疗发现

Kontaridis, Maria I; Roberts, Amy E; Schill, Lisa; Schoyer, Lisa; Stronach, Beth; Andelfinger, Gregor; Aoki, Yoko; Axelrad, Marni E; Bakker, Annette; Bennett, Anton M; Broniscer, Alberto; Castel, Pau; Chang, Caitlin A; Cyganek, Lukas; Das, Tirtha K; den Hertog, Jeroen; Galperin, Emilia; Garg, Shruti; Gelb, Bruce D; Gordon, Kristiana; Green, Tamar; Gripp, Karen W; Itkin, Maxim; Kiuru, Maija; Korf, Bruce R; Livingstone, Jeff R; López-Juárez, Alejandro; Magoulas, Pilar L; Mansour, Sahar; Milner, Theresa; Parker, Elisabeth; Pierpont, Elizabeth I; Plouffe, Kevin; Rauen, Katherine A; Shankar, Suma P; Smith, Shane B; Stevenson, David A; Tartaglia, Marco; Van, Richard; Wagner, Morgan E; Ware, Stephanie M; Zenker, Martin

Manuel Núñez Butrón (1900-1952): Rijcharismo and Rural Social Medicine in Peru

曼努埃尔·努涅斯·布特隆(Manuel Núñez Butrón,1900-1952):秘鲁的 Rijcharismo 和农村社会医学

Redelfs, Alisha H; Donoso Naranjo, Paola G; Guillén Núñez, María Del Pilar L

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

对扩展的携带者筛查面板上的 176 个基因进行严重程度评估和分类

Arjunan, Aishwarya; Bellerose, Holly; Torres, Raul; Ben-Shachar, Rotem; Hoffman, Jodi D; Angle, Brad; Slotnick, Robert Nathan; Simpson, Brittany N; Lewis, Andrea M; Magoulas, Pilar L; Bontempo, Kelly; Schulze, Jeanine; Tarpinian, Jennifer; Bucher, Jessica A; Dineen, Richard; Goetsch, Allison; Lazarin, Gabriel A; Johansen Taber, Katherine

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes

赖氨酰tRNA合成酶功能丧失突变会导致多种脑白质病表型。

Sun, Chong; Song, Jie; Jiang, Yanjun; Zhao, Chongbo; Lu, Jiahong; Li, Yuxin; Wang, Yin; Gao, Mingshi; Xi, Jianying; Luo, Sushan; Li, Meixia; Donaldson, Kevin; Oprescu, Stephanie N; Slavin, Thomas P; Lee, Sansan; Magoulas, Pilar L; Lewis, Andrea M; Emrick, Lisa; Lalani, Seema R; Niu, Zhiyv; Landsverk, Megan L; Walkiewicz, Magdalena; Person, Richard E; Mei, Hui; Rosenfeld, Jill A; Yang, Yaping; Antonellis, Anthony; Hou, Ya-Ming; Lin, Jie; Zhang, Victor W

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN

与RBSN基因功能缺失变异相关的综合征型先天性骨髓纤维化

Magoulas, Pilar L; Shchelochkov, Oleg A; Bainbridge, Matthew N; Ben-Shachar, Shay; Yatsenko, Svetlana; Potocki, Lorraine; Lewis, Richard A; Searby, Charles; Marcogliese, Andrea N; Elghetany, M Tarek; Zapata, Gladys; Hernández, Paula P; Gadkari, Manasi; Einhaus, Derek; Muzny, Donna M; Gibbs, Richard A; Bertuch, Alison A; Scott, Daryl A; Corvera, Silvia; Franco, Luis M

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

TRAF7基因的新生错义突变会导致发育迟缓、先天性异常和畸形特征

Tokita, Mari J; Chen, Chun-An; Chitayat, David; Macnamara, Ellen; Rosenfeld, Jill A; Hanchard, Neil; Lewis, Andrea M; Brown, Chester W; Marom, Ronit; Shao, Yunru; Novacic, Danica; Wolfe, Lynne; Wahl, Colleen; Tifft, Cynthia J; Toro, Camilo; Bernstein, Jonathan A; Hale, Caitlin L; Silver, Julia; Hudgins, Louanne; Ananth, Amitha; Hanson-Kahn, Andrea; Shuster, Shirley; Magoulas, Pilar L; Patel, Vipulkumar N; Zhu, Wenmiao; Chen, Stella M; Jiang, Yanjun; Liu, Pengfei; Eng, Christine M; Batkovskyte, Dominyka; di Ronza, Alberto; Sardiello, Marco; Lee, Brendan H; Schaaf, Christian P; Yang, Yaping; Wang, Xia