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Tìm được 134 kết quả
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
 
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort
Tác giả: Lieselot Vincke, Kristof Van Schil, Julie De Zaeytijd, Marieke De Bruyne, Quinten Mahieu, Ebrahim Al-Hajj, Marta Del Pozo-Valero, Toon Rosseel, Mattias Van Heetvelde, Reza Maroofian, Fatemeh Suri, Miriam Bauwens, Hamid Ahmadieh, Elfride De Baere, Afrooz Moghaddasi, Hamideh Sabbaghi, Narsis Daftarian, Tahmineh Motevasseli, Leila Javanparast Sheykhani, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc:  912.01
 
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
 
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
 
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
 
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