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

A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations

基底膜发现管道揭示了网络复杂性、调节器和人类疾病关联

Ranjay Jayadev, Mychel R P T Morais, Jamie M Ellingford, Sandhya Srinivasan, Richard W Naylor, Craig Lawless, Anna S Li, Jack F Ingham, Eric Hastie, Qiuyi Chi, Maryline Fresquet, Nikki-Maria Koudis, Huw B Thomas, Raymond T O'Keefe, Emily Williams, Antony Adamson, Helen M Stuart, Siddharth Banka, Dam

Where is crystallography going?

晶体学的发展方向是什么?

Grimes, Jonathan M; Hall, David R; Ashton, Alun W; Evans, Gwyndaf; Owen, Robin L; Wagner, Armin; McAuley, Katherine E; von Delft, Frank; Orville, Allen M; Sorensen, Thomas; Walsh, Martin A; Ginn, Helen M; Stuart, David I

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

ACTB 功能丧失突变导致多效性发育障碍

Sara Cuvertino, Helen M Stuart, Kate E Chandler, Neil A Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev Bhaskar, Bert Callewaert, Jill Clayton-Smith, Cristina Hernando Davalillo, Charu Deshpande, Koenraad Devriendt, Maria C Digilio, Abhijit Dixit, Matthew Edwards, Jan M Friedman, Antonio Gonzalez

Urinary tract effects of HPSE2 mutations

HPSE2 突变对泌尿道的影响

Helen M Stuart, Neil A Roberts, Emma N Hilton, Edward A McKenzie, Sarah B Daly, Kristen D Hadfield, Jeffery S Rahal, Natalie J Gardiner, Simon W Tanley, Malcolm A Lewis, Emily Sites, Brad Angle, Cláudia Alves, Teresa Lourenço, Márcia Rodrigues, Angelina Calado, Marta Amado, Nancy Guerreiro, Inês Ser

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

TBX18 突变通过输尿管发育的转录失调导致主要泌尿道畸形

Asaf Vivante, Marc-Jens Kleppa, Julian Schulz, Stefan Kohl, Amita Sharma, Jing Chen, Shirlee Shril, Daw-Yang Hwang, Anna-Carina Weiss, Michael M Kaminski, Rachel Shukrun, Markus J Kemper, Anja Lehnhardt, Rolf Beetz, Simone Sanna-Cherchi, Miguel Verbitsky, Ali G Gharavi, Helen M Stuart, Sally A Feath

Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus

尿面部综合征中发生突变的肝素酶 2 介导非洲爪蟾的周围神经发育

Neil A Roberts, Adrian S Woolf, Helen M Stuart, Raphaël Thuret, Edward A McKenzie, William G Newman, Emma N Hilton

LRIG2 mutations cause urofacial syndrome

LRIG2 突变导致尿面综合征

Helen M Stuart, Neil A Roberts, Berk Burgu, Sarah B Daly, Jill E Urquhart, Sanjeev Bhaskar, Jonathan E Dickerson, Murat Mermerkaya, Mesrur Selcuk Silay, Malcolm A Lewis, M Beatriz Orive Olondriz, Blanca Gener, Christian Beetz, Rita E Varga, Omer Gülpınar, Evren Süer, Tarkan Soygür, Zeynep B Ozçakar,