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Novel variant of COL12A1 gene causing neonatal hypotonia and respiratory failure
Tác giả: Huizhi Huang, Luyao Deng, Yu Zhang, Ying Wang, Dongya Yan, Xianhong Lin, Yan Wang, Yingyan Wang, Xiaofeng Hu
Xuất bản: Italy: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology , 2025
Bộ sưu tập: NCBI
ddc:  302.222
 
Comprehensive genetic variant analysis reveals combination of KRAS and LRP1B as a predictive biomarker of response to immunotherapy in patients with non-small cell lung cancer
Tác giả: Ella A Eklund, Johanna Svensson, Sukanya Raghavan, Anna Rohlin, Louise Stauber Näslund, Maria Yhr, Sama I Sayin, Clotilde Wiel, Levent M Akyürek, Per Torstensson, Volkan I Sayin, Andreas Hallqvist
Xuất bản: England: Journal of experimental & clinical cancer research : CR , 2025
Bộ sưu tập: NCBI
ddc:  622.77
 
Protean cutaneous manifestation caused by ABCA12 variants: erythrokeratodermia variabilis-like ichthyosis and unique pal...
Tác giả: Chih-Yu Chang, Min-Chia Yang, Hui-Ching Cheng, Yu-Chen Lin, John McGrath, Chao-Kai Hsu, Wei Ting Tu
Xuất bản: England: Clinical and experimental dermatology , 2025
Bộ sưu tập: NCBI
ddc:  973.928
 
Assessment of the clinical significance of a UGT1A1 gene variant in affecting phototherapy response and long-term outcomes in neonatal hyperbilirubinemia
Tác giả: Shuai Fu, Xue Yang, Lin Pei, Xiaoman Wan, Yue Jiang, Yingying Kang, Hesheng Chang
Xuất bản: England: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians , 2025
Bộ sưu tập: NCBI
ddc:  594.38
 
Biotin-Thiamine-Responsive Basal Ganglia Disease: A Case Report
Tác giả: Jonathan Tse, Asem Abu-Qamar, Omar Youssef, Sherry L Pejka
Xuất bản: Switzerland: Case reports in neurology , 2025
Bộ sưu tập: NCBI
ddc:  594.38
 
Boosting GPT models for genomics analysis: generating trusted genetic variant annotations and interpretations through RAG and Fine-tuning
Tác giả: Shuangjia Lu, Erdal Cosgun
Xuất bản: England: Bioinformatics advances , 2025
Bộ sưu tập: NCBI
ddc:  636.0885
 
The sV184A Variant in HBsAg Specific to HBV Subgenotype C2 Leads to Enhanced Viral Replication and Apoptotic Cell Death Induced by PERK-eIF2α-CHOP-Mediated ER Stress
Tác giả: Yu-Min Choi, Dong Hyun Kim, Eun Ju Cho, Ziyun Kim, Junghwa Jang, Hyunsoo Kim, Su Jong Yu, Bum-Joon Kim
Xuất bản: United States: Journal of medical virology , 2025
Bộ sưu tập: NCBI
ddc:  037.811
 
Bioinformatics Tools for NGS-Based Identification of Single Nucleotide Variants and Large-Scale Rearrangements in Mitoch...
Tác giả: Marco Barresi, Giulia Dal Santo, Rossella Izzo, Andrea Zauli, Eleonora Lamantea, Leonardo Caporali, Daniele Ghezzi, Andrea Legati
Xuất bản: Switzerland: Biotech (Basel (Switzerland , 2025
Bộ sưu tập: NCBI
ddc:  594.38
 
Using minor variant genomes and machine learning to study the genome biology of SARS-CoV-2 over time
Tác giả: Xiaofeng Dong, David A Matthews, Miles W Carroll, Julian A Hiscox, Giulia Gallo, Alistair Darby, I'ah Donovan-Banfield, Hannah Goldswain, Tracy MacGill, Todd Myers, Robert Orr, Dalan Bailey
Xuất bản: England: Nucleic acids research , 2025
Bộ sưu tập: NCBI
ddc:  629.13637
 
A new variant of dual left anterior descending artery: Type VI-B
Tác giả: Damandeep Singh, Aprateem Mukherjee, Sanjeev Kumar, Satyavir Yadav
Xuất bản: India: Indian journal of thoracic and cardiovascular surgery , 2025
Bộ sưu tập: NCBI
ddc:  809.008
 
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