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41-50 trong số 76 kết quả
Phenotype Spectrum of TRPM3-Associated Disorders
Tác giả: Laura Jolitz, Ingo Helbig, Bertrand Isidor, Boris Keren, David Dyment, Delphine Heron, Helena Gásdal Karstensen, Inge Cuppen, John Christodoulou, Meredith Wilson, Nicole J Lake, Saskia Biskup, Mark P Fitzgerald, Steffen Syrbe, Takayasu Mori, Lena-Luise Becker, Angela M Kaindl, Sarah McKeown Ruggiero, Stacey Cohen, Chloe Angelini, Elena Vallespin, Vincent Michaud, Anna Gerasimenko, Benjamin Cogne
Xuất bản: United States: Annals of neurology , 2025
Bộ sưu tập: NCBI
ddc:  305.2351
 
Unravelling genotype-phenotype correlations in Stargardt disease using patient-derived retinal organoids
Tác giả: Avril Watson, Rachel Queen, Darin Zerti, Valeria Chichagova, Ana Conesa, Lyle Armstrong, Frans P M Cremers, Majlinda Lako, Luis Ferrández-Peral, Birthe Dorgau, Joseph Collin, Andrew Nelson, Rafiqul Hussain, Jonathan Coxhead, Michael McCorkindale, Robert Atkinson
Xuất bản: England: Cell death & disease , 2025
Bộ sưu tập: NCBI
ddc:  025.3177
 
The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates
Tác giả: Rebecca Kriukelis, Michael T Gabbett, Rachael Beswick, Aideen M McInerney-Leo, Carlie Driscoll, Karen Liddle
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  006.31
 
Phenotypic Data Collection and Sample Preparation for Genomics of Wood Formation and Cellulosic Biomass Traits in Sunflo...
Tác giả:
Xuất bản: Washington, D.C. : Oak Ridge, Tenn: United States. Dept. of Energy. Office of Science ; Distributed by the Office of Scientific and Technical Information, U.S. Dept. of Energy , 2011
Bộ sưu tập: Báo, Tạp chí
ddc:  668.5
 
Hybrid EMT Phenotype and Cell Membrane Tension Promote Colorectal Cancer Resistance to Ferroptosis
Tác giả: Xiaowei Wei, Yutong Ge, Liqiao Hu, Youhua Tan, Qiong Jia, Yaolin Zheng, Sunyan Zhao, Yuhan Zhou, Yuhan Chang, Nuofan Wang, Xiumei Wang, Juan Zhang, Xuanchang Zhang
Xuất bản: Germany: Advanced science (Weinheim, Baden-Wurttemberg, Germany , 2025
Bộ sưu tập: NCBI
ddc:  230.071
 
The epilepsy-autism phenotype associated with developmental and epileptic encephalopathies: New mechanism-based therapeutic options
Tác giả: Nicola Specchio, Valentina Di Micco, Paolo Curatolo, Eleonora Aronica, Stéphane Auvin, Simona Balestrini, Andreas Brunklaus, Elena Gardella, Mirte Scheper, Maurizio Taglialatela, Marina Trivisano
Xuất bản: United States: Epilepsia , 2025
Bộ sưu tập: NCBI
ddc:  336.09
 
Ancient biases in phenotype production drove the functional evolution of a protein family
Tác giả: Santiago Herrera-Álvarez, Jaeda E J Patton, Joseph W Thornton
Xuất bản: United States: bioRxiv : the preprint server for biology , 2025
Bộ sưu tập: NCBI
ddc:  662.6623
 
Cardiometabolic phenotype linked to fibrosis and mortality in metabolic dysfunction-associated steatotic liver disease
Tác giả: Rui Dong, Dongchun Chang, Zhenghan Luo, Sen Qu, Chao Shen, Ting Tian, Jia Wang, Jie Wang, Hong Xue, Ru Zhang
Xuất bản: Netherlands: Nutrition, metabolism, and cardiovascular diseases : NMCD , 2025
Bộ sưu tập: NCBI
ddc:  070.194
 
Restoration of anatomical knee phenotype is associated with improved postoperative clinical outcomes after total knee arthroplasty
Tác giả: Hong Yeol Yang, Jae Hyeok Cheon, Jae Yeon Hwang, Jong Keun Seon
Xuất bản: Netherlands: The Knee , 2025
Bộ sưu tập: NCBI
ddc:  001.4226
 
Genotype-Phenotype Correlations and Clinical Outcomes of Genetic TRPC6 Podocytopathies
Tác giả: Susan M McAnallen, Bushra Al Alawi, Dubrasquet Astrid, Atif Awan, Francesca Becherucci, Katherine A Benson, Erik Biros, Anthony J Bleyer, Joaquim Calado, Michelle Clince, Eloïse Colliou, Peter J Conlon, Joséphine Cornet, Sergio Daga, Jonathan de Fallois, Stéphane Decramer, Claire Dossier, Elhussein A E Elhassan, Roberta Fenoglio, Marc Fila, Telma Francisco, Stefanie Haeberle, Trudie Harris, Julia Hoefele, Marie C Hogan, Ng Kar Hui, Sofia Jorge, Kendrah Kidd, Lorenzo Loberti, Andrew J Mallett, Emma McCann, Hugh McCarthy, Poemlarp Mekraksakit, Godefroid Nathalie, Filippo Pinto E Vairo, Anna Maria Pinto, Luis F Quintana, Alessandra Renieri, Michael Riordan, John A Sayer, Franz Schafer, Aude Servais, Maria Stack, Sinead Stoneman, Clodagh Sweeney, Stéphanie Tellier, Silvia M Titan, KálmánNiamh ToryDolan
Xuất bản: England: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association , 2025
Bộ sưu tập: NCBI
ddc:  523.822
 

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