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101-110 trong số 161 kết quả
The epilepsy-autism phenotype associated with developmental and epileptic encephalopathies: New mechanism-based therapeu...
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
 
Analysis of genotypic distribution and rare variants of patients with α/β-thalassemia screened in one hospital in Beijin...
Tác giả: Han Zhang, Ziran Wang, Jie Wu, Yong Gan, Yu Chen, Ali Ye, Ziyi Wang, Dong Zhang, Xiao Han, Juan Du, Yaling Dou, Zhuo Yang, Xinfei Chen, Hongrui Xu, Xianhui Zeng, Qi Yu, Lingjun Kong, Rui Zhang, Jie Yi
Xuất bản: England: Human genomics , 2025
Bộ sưu tập: NCBI
ddc:  004.619
 
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
 
Linking obesity-associated genotype to child language development: the role of early-life neurology-related proteomics a...
Tác giả: Jian Huang, Jinyi Che, Kok Hian Tan, Yap Seng Chong, Shiao-Yng Chan, Johan G Eriksson, Dennis Wang, Jonathan Yinhao Huang, Michelle Z L Kee, Ai Peng Tan, Evelyn C Law, Patricia Pelufo Silveira, Irina Pokhvisneva, Sachin Patel, Keith M Godfrey, Lourdes Mary Daniel
Xuất bản: Netherlands: EBioMedicine , 2025
Bộ sưu tập: NCBI
ddc:  006.312
 
Genotype-phenotype correlation of ODLURO syndrome comorbid epilepsy associated with KMT2E variations: Report on a novel ...
Tác giả: Shuyao Zhu, Hui Zhu, Jiaji Zhou, Lan Zeng, Ai Chen, Xingyu Liu, Jinglin Liu, Guanghuan Pi, Li Yang, Zemin Luo, Jun Fan, Fu Xiong, Wenwen Zhang
Xuất bản: United States: Epilepsy & behavior : E&B , 2025
Bộ sưu tập: NCBI
ddc:  547.632
 
GenCOLT: a multicenter European biobank for investigating genome-wide determinants of lung transplant outcomes
Tác giả: Brendan J Keating
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  936
 
Oncotype DX recurrence score in node-positive patients in the post-RxPONDER era: a single-institution experience
Tác giả: Rachel Han, Edi Brogi, Mahmoud El-Tamer, Monica Morrow, Donna Thompson, Hannah Y Wen
Xuất bản: Netherlands: Breast cancer research and treatment , 2025
Bộ sưu tập: NCBI
ddc:  614.547
 
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
 
Dynamics of neutrophil phenotype and function in sickle cell disease
Tác giả: Aafke E Gaartman, Boukje M Beuger, Bart J Biemond, Lydian A de Ligt, Taco W Kuijpers, Erfan Nur, Anton T J Tool, Robin van Bruggen, Rob van Zwieten, Martijn Veldthuis
Xuất bản: Switzerland: Frontiers in immunology , 2025
Bộ sưu tập: NCBI
ddc:  530.1433
 
Integrated Phenotypic and Genotypic Approaches for Accurate Diagnosis of G6PD Deficiency: Implications for Drug Safety i...
Tác giả: Natnicha Pengsuk, Usa Boonyuen, Kamonwan Chamchoy, Chatnapa Duangdee, Wang Nguitragool, Naowarat Saralamba, Jantawan Satayarak
Xuất bản: United States: Pharmacology research & perspectives , 2025
Bộ sưu tập: NCBI
ddc:  261.834
 

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