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

MSRB3 antioxidant activity is necessary for inner ear cuticular plate structure and hair bundle integrity.

MSRB3 抗氧化活性对于内耳角质层结构和毛束完整性是必需的

Nayak Gowri, Richard Elodie M, Lee Byung Cheon, Riordan Gavin P, Belyantseva Inna A, Manta Bruno, Friedman Thomas B, Gladyshev Vadim N, Riazuddin Saima

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

SPATA5L1基因的双等位基因变异会导致智力障碍、痉挛性肌张力障碍性脑瘫、癫痫和听力丧失。

Richard, Elodie M; Bakhtiari, Somayeh; Marsh, Ashley P L; Kaiyrzhanov, Rauan; Wagner, Matias; Shetty, Sheetal; Pagnozzi, Alex; Nordlie, Sandra M; Guida, Brandon S; Cornejo, Patricia; Magee, Helen; Liu, James; Norton, Bethany Y; Webster, Richard I; Worgan, Lisa; Hakonarson, Hakon; Li, Jiankang; Guo, Yiran; Jain, Mahim; Blesson, Alyssa; Rodan, Lance H; Abbott, Mary-Alice; Comi, Anne; Cohen, Julie S; Alhaddad, Bader; Meitinger, Thomas; Lenz, Dominic; Ziegler, Andreas; Kotzaeridou, Urania; Brunet, Theresa; Chassevent, Anna; Smith-Hicks, Constance; Ekstein, Joseph; Weiden, Tzvi; Hahn, Andreas; Zharkinbekova, Nazira; Turnpenny, Peter; Tucci, Arianna; Yelton, Melissa; Horvath, Rita; Gungor, Serdal; Hiz, Semra; Oktay, Yavuz; Lochmuller, Hanns; Zollino, Marcella; Morleo, Manuela; Marangi, Giuseppe; Nigro, Vincenzo; Torella, Annalaura; Pinelli, Michele; Amenta, Simona; Husain, Ralf A; Grossmann, Benita; Rapp, Marion; Steen, Claudia; Marquardt, Iris; Grimmel, Mona; Grasshoff, Ute; Korenke, G Christoph; Owczarek-Lipska, Marta; Neidhardt, John; Radio, Francesca Clementina; Mancini, Cecilia; Claps Sepulveda, Dianela Judith; McWalter, Kirsty; Begtrup, Amber; Crunk, Amy; Guillen Sacoto, Maria J; Person, Richard; Schnur, Rhonda E; Mancardi, Maria Margherita; Kreuder, Florian; Striano, Pasquale; Zara, Federico; Chung, Wendy K; Marks, Warren A; van Eyk, Clare L; Webber, Dani L; Corbett, Mark A; Harper, Kelly; Berry, Jesia G; MacLennan, Alastair H; Gecz, Jozef; Tartaglia, Marco; Salpietro, Vincenzo; Christodoulou, John; Kaslin, Jan; Padilla-Lopez, Sergio; Bilguvar, Kaya; Munchau, Alexander; Ahmed, Zubair M; Hufnagel, Robert B; Fahey, Michael C; Maroofian, Reza; Houlden, Henry; Sticht, Heinrich; Mane, Shrikant M; Rad, Aboulfazl; Vona, Barbara; Jin, Sheng Chih; Haack, Tobias B; Makowski, Christine; Hirsch, Yoel; Riazuddin, Saima; Kruer, Michael C

Use of Zebrafish Models to Boost Research in Rare Genetic Diseases

利用斑马鱼模型促进罕见遗传病研究

Crouzier, Lucie; Richard, Elodie M; Sourbron, Jo; Lagae, Lieven; Maurice, Tangui; Delprat, Benjamin

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

巴基斯坦近亲结婚家庭通过分离听力损失病例,为全球遗传学研究提供了重要见解。

Richard, Elodie M; Santos-Cortez, Regie Lyn P; Faridi, Rabia; Rehman, Atteeq U; Lee, Kwanghyuk; Shahzad, Mohsin; Acharya, Anushree; Khan, Asma A; Imtiaz, Ayesha; Chakchouk, Imen; Takla, Christina; Abbe, Izoduwa; Rafeeq, Maria; Liaqat, Khurram; Chaudhry, Taimur; Bamshad, Michael J; Nickerson, Deborah A; Schrauwen, Isabelle; Khan, Shaheen N; Morell, Robert J; Zafar, Saba; Ansar, Muhammad; Ahmed, Zubair M; Ahmad, Wasim; Riazuddin, Sheikh; Friedman, Thomas B; Leal, Suzanne M; Riazuddin, Saima