Mapping genome-wide diversity and population dynamics in Indian chicken breeds for targeted conservation and breeding.
British poultry science | 2024-12-01 | PMID 39212228
Arora R, Kumar H, Sharma U and 5 more
Publication catalog
Biomedical publications with connected research
Browse 1,060,000 source-attributed publications. Article pages show available bibliographic context, indexed concepts and SPECTER2 related publications where supported by the source and graph. Missing metadata is not invented, and source retraction notices remain visible.
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Publications
Page 9572 of 10600
Elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis and rare mutations.
Pediatric pulmonology | 2024-12-01 | PMID 39212240
Fainardi Valentina, Cresta Federico, Sorio Claudio and 7 more
Genes: CFTR
Adult T-cell leukemia/lymphoma with angioimmunoblastic T-cell lymphoma-like feature and molecularly confirmed RHOA Gly 17 Val (G17V) mutation: A case report.
Pathology international | 2024-11-01 | PMID 39212250
Maruyama Rika, Oyama Yuzo, Nagamatsu Kentaro and 3 more
Effect of GBA1 Mutations and APOE Polymorphisms on Survival and Progression Among Ashkenazi Jews with Dementia with Lewy Bodies.
Movement disorders : official journal of the Movement Disorder Society | 2024-12-01 | PMID 39212252
Shiner Tamara, Kavé Gitit, Mirelman Anat and 10 more
Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5'UTR variants in three-generational pedigree.
Platelets | 2024-12-01 | PMID 39212265
Trizuljak Jakub, Likavcová Paulína, Staňo Kozubík Kateřina and 12 more
[Genetic analysis of carriers of complex chromosome rearrangement].
Zhonghua nan ke xue = National journal of andrology | 2024-06-01 | PMID 39212357
Tian Hao, Shao Min-Jie, Yan Li-Ying and 1 more
[Application of single-sperm sequencing in resolving the carrier status of preimplantation genetic testing for chromosomal structural rearrangements in Robertsonian translocations].
Zhonghua nan ke xue = National journal of andrology | 2024-06-01 | PMID 39212358
Liao Bao-Qiong, Lai Li-Dan, Liu Ru-Tian and 3 more
[Inflammatory factors and prostate cancer: Two-sample Mendelian randomization analysis].
Zhonghua nan ke xue = National journal of andrology | 2024-07-01 | PMID 39212392
Zeng Yin, Zhang Gan-Lin, Guo Jun and 3 more
Two amino acid residues in the N-terminal region of the polymerase acidic protein determine the virulence of Eurasian avian-like H1N1 swine influenza viruses in mice.
Journal of virology | 2024-10-22 | PMID 39212447
Yang Yuying, Xu Chengzhi, Zhang Naixin and 8 more
Maize mutant screens: from classical methods to new CRISPR-based approaches.
The New phytologist | 2024-10-01 | PMID 39212458
Lorenzo Christian Damian, Blasco-Escámez David, Beauchet Arthur and 5 more
Asymptotically exact fit for linear mixed model in genetic association studies.
Genetics | 2024-10-07 | PMID 39212459
Guan Yongtao, Levy Daniel
Defects in the central metabolism prevent thymineless death in Escherichia coli, while still allowing significant protein synthesis.
Genetics | 2024-11-06 | PMID 39212478
Khan Sharik R, Kuzminov Andrei
Prevalence and assemblage identified of Giardia duodenalis in zoo and farmed Asiatic black bears (Ursus thibetanus) from the Heilongjiang and Fujian Provinces of China.
Parasite (Paris, France) | 2024-01-01 | PMID 39212527
Chen Jiani, Zhou Liyuting, Cao Wenjie and 7 more
Genetic Susceptibility of Thrombin Measurement Levels and the Risk of Colon Adenocarcinoma: A Mendelian Randomization Study.
British journal of hospital medicine (London, England : 2005) | 2024-08-30 | PMID 39212570
Liu Yeliu, Zhou Jiajie
Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation.
Translational vision science & technology | 2024-08-01 | PMID 39212608
Savastano Maria Cristina, Placidi Giorgio, Fossataro Claudia and 15 more
The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families.
Investigative ophthalmology & visual science | 2024-08-01 | PMID 39212610
Jiang Yi, Yi Zhen, Zheng Yuxi and 7 more
Genes: PAX6
'Wild Type'.
Microbiology (Reading, England) | 2024-08-01 | PMID 39212644
Askenasy Isabel, Swain Jemima E V, Ho Pok-Man and 7 more
Enpp1 mutations promote upregulation of hedgehog signaling in heterotopic ossification with aging.
Journal of bone and mineral metabolism | 2024-11-01 | PMID 39212714
He Zhongyuan, Zhu Zhengya, Tang Tao and 9 more
Karyotypic and phenotypic condensation in allotetraploid wheats accompanied with reproductive strategy transformation: from natural evolution to domestication.
Planta | 2024-08-30 | PMID 39212743
Fan Wei, Sun Meiqi, Zheng Yongbao and 3 more
Association between LTF/MMP20/CA6/TAS1R2 polymorphisms and susceptibility to dental caries.
Clinical oral investigations | 2024-08-30 | PMID 39212776
Li Yaomei, Pan Jinfeng, Li Haodong and 4 more
Genes: LTF, CA6, MMP20, TAS1R2
Intraspecific Variation of Brown Rat Rattus norvegicus in Russia by D-Loop mtDNA Data.
Doklady biological sciences : proceedings of the Academy of Sciences of the USSR, Biological sciences sections | 2024-10-01 | PMID 39212882
Maltsev A N, Kartavtseva I V, Stakheev V V and 4 more
Environmental and Genetic Risk Factors for Gastric Cancer.
Cancer treatment and research | 2024-01-01 | PMID 39212913
Shah Dhavan, Bentrem David
Gastrointestinal Malignancy: Genetic Implications to Clinical Applications.
Cancer treatment and research | 2024-01-01 | PMID 39212927
Trembath Hannah E, Yeh Jen Jen, Lopez Nicole E
Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.
European heart journal | 2024-11-14 | PMID 39212933
Zuriaga María A, Yu Zhi, Matesanz Nuria and 14 more
Meta-Analysis of Noncompartmental Pharmacokinetic Parameters to Evaluate the Impact of CYP2C19 and CYP2C9 Genetic Polymorphisms on Abrocitinib Exposure.
Clinical pharmacology in drug development | 2024-10-01 | PMID 39212958
Fostvedt Luke, Liu Jian, Wang Xiaoxing and 8 more
Genes: CYP2C9, CYP2C19
Characteristics and Transcriptomic Analysis of Cholinergic Neurons Derived from Induced Pluripotent Stem Cells with APP Mutation in Alzheimer's Disease.
Journal of Alzheimer's disease : JAD | 2024-01-01 | PMID 39213067
Sun Wenxian, Chen Yufei, Yang Yuting and 10 more
Genes: APP
Cognitive Outcomes in Autosomal-Dominant Alzheimer's Disease: A Comprehensive Review from a Colombian Kindred with the Presenilin-1 E280A Mutation.
Journal of Alzheimer's disease : JAD | 2024-01-01 | PMID 39213071
Giudicessi Averi, McDowell Celina Pluim, Martinez Jairo E and 10 more
Genes: PSEN1
Causal Effects of Kidney Function and Chronic Kidney Disease on Alzheimer's Disease by Analyzing Large-Scale Genome-Wide Association Study Datasets.
Journal of Alzheimer's disease : JAD | 2024-11-01 | PMID 39213079
Zhao Hainan, Yuan Hongxia, Wang Ermin
GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort.
Journal of neuromuscular diseases | 2024-01-01 | PMID 39213088
Baskar Dipti, Reddy Nishanth, Preethish-Kumar Veeramani and 19 more
Variable fitness effects of bacteriophage resistance mutations in Escherichia coli: implications for phage therapy.
Journal of virology | 2024-10-22 | PMID 39213164
Gaborieau Baptiste, Delattre Raphaëlle, Adiba Sandrine and 4 more
IL-18 primes T cells with an antigen-inexperienced memory phenotype for proliferation and differentiation into effector cells through Notch signaling.
Journal of leukocyte biology | 2024-12-31 | PMID 39213165
Li Wen, Jin Denan, Takai Shinji and 4 more
Evolution of a bistable genetic system in fluctuating and nonfluctuating environments.
Proceedings of the National Academy of Sciences of the United States of America | 2024-09-03 | PMID 39213178
Fernández-Fernández Rocío, Olivenza David R, Weyer Esther and 3 more
A long noncoding RNA at the cortex locus controls adaptive coloration in butterflies.
Proceedings of the National Academy of Sciences of the United States of America | 2024-09-03 | PMID 39213180
Livraghi Luca, Hanly Joseph J, Evans Elizabeth and 10 more
Common variants of vitamin D receptor gene polymorphisms and risk of gastric cancer: A meta-analysis.
Medicine | 2024-08-30 | PMID 39213223
Guan Min, Wang Yong
Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports.
Medicine | 2024-08-30 | PMID 39213226
Feng Qi, Zhang Meng Qiao, Ba Chun Xiao and 1 more
Causality between Celiac disease and kidney disease: A Mendelian Randomization Study.
Medicine | 2024-08-30 | PMID 39213254
Ge Ya-Mei, Peng Shuang-Li, Wang Qiong and 1 more
Identification of immunity- and ferroptosis-related signature genes as potential design targets for mRNA vaccines in AML patients.
Aging | 2024-08-29 | PMID 39213256
Wang Chaojie, Lv Liping, Ma Ping and 4 more
Genes: C2
Identification of echinoderm metabolites as potential inhibitors targeting wild-type and mutant forms of Escherichia coli RNA polymerase (RpoB) for tuberculosis treatment.
PloS one | 2024-01-01 | PMID 39213289
Alsulais Fatimah M, Alhaidhal Bayan A, Mothana Ramzi A and 1 more
Causal association of menstrual reproductive factors on the risk of osteoarthritis: A univariate and multivariate Mendelian randomization study.
PloS one | 2024-01-01 | PMID 39213290
Tan Xinzhe, Mei Yifang, Zhou Yihao and 5 more
Distinct clinical trajectories of gastrointestinal progression among patients with systemic sclerosis.
Rheumatology (Oxford, England) | 2025-05-01 | PMID 39213328
Perin Jamie, Hughes Michael, Mecoli Christopher A and 7 more
CBGDA: a manually curated resource for gene-disease associations based on genome-wide CRISPR.
Database : the journal of biological databases and curation | 2024-08-30 | PMID 39213392
Du Qingsong, Zhang Zhiyu, Yang Wanyi and 4 more
Periplasmic carbonic anhydrase CAH1 contributes to high inorganic carbon affinity in Chlamydomonas reinhardtii.
Plant physiology | 2024-12-02 | PMID 39213413
Shimamura Daisuke, Ikeuchi Tomoaki, Matsuda Ami and 4 more
Variability in performance of genetic-enhanced DXA-BMD prediction models across diverse ethnic and geographic populations: A risk prediction study.
PLoS medicine | 2024-08-01 | PMID 39213443
Liu Yong, Meng Xiang-He, Wu Chong and 10 more
Genes: SPN
The small acid-soluble proteins of Clostridioides difficile regulate sporulation in a SpoIVB2-dependent manner.
PLoS pathogens | 2024-08-01 | PMID 39213448
Nerber Hailee N, Baloh Marko, Brehm Joshua N and 1 more
Entropy-Driven Catalytic G-Quadruple Cycle Amplification Integrated with Ligases for Label-Free Detection of Single Nucleotide Polymorphisms.
Analytical chemistry | 2024-09-17 | PMID 39213531
Zhang Yunshan, Yang Fang, Huang Tuo and 7 more
Kinetics of Secoisolariciresinol Glucosyltransferase LuUGT74S1 and Its Mutants.
Journal of agricultural and food chemistry | 2024-09-11 | PMID 39213532
Moree Sadiq Saleh, Böhm Lukas, Hoffmann Thomas and 1 more
Establishment of iPS cell line (SDQLCHi080-A) from a patient with GM1 gangliosidosis due to GLB1 mutation.
Stem cell research | 2024-12-01 | PMID 39213692
Guan Jingyun, Duan Chunhong, Lv Yuqiang and 3 more
Do aluminum, boron, arsenic, cadmium, lipoperoxidation, and genetic polymorphism determine male fertility?
Ecotoxicology and environmental safety | 2024-10-01 | PMID 39213757
Baszyński Jędrzej, Kamiński Piotr, Mroczkowski Sławomir and 9 more
Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review.
Journal francais d'ophtalmologie | 2024-10-01 | PMID 39213781
Vrabič N, Fakin A, Tekavčič Pompe M
Overlapping hearing and communication profiles for the deletion and the RAI1 variant form of Smith-Magenis Syndrome (SMS).
Journal of communication disorders | 2000-01-01 | PMID 39213791
Brennan Christine, Baiduc Rachael R
Case-control study of IL23R rs76418789 polymorphism, smoking, and ulcerative colitis in Japan.
Cytokine | 2024-11-01 | PMID 39213891
Miyake Yoshihiro, Tanaka Keiko, Nagata Chisato and 29 more
Imputation of single nucleotide polymorphism genotypes in ungenotyped sport horses from the genotypes of their progeny.
Animal : an international journal of animal bioscience | 2024-09-01 | PMID 39213910
Doyle J L, Egan S, Berry D P
The drought-induced plasticity of mineral nutrients contributes to drought tolerance discrimination in durum wheat.
Plant physiology and biochemistry : PPB | 2024-10-01 | PMID 39213946
Maghrebi Moez, Marín-Sanz Miriam, Miras Moreno Maria Begona and 12 more
The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study.
Pediatric neurology | 2024-12-01 | PMID 39213953
Thys Liene, Beysen Diane, Ceulemans Berten and 7 more
Three-fold expansion of the genetic diversity of blunerviruses through plant (meta)transcriptome data-mining.
Virology | 2024-11-01 | PMID 39213990
Reddy T Sudharshan, Sidharthan V Kavi
MET exon 14 skipping mutations in non-small-cell lung cancer: real-world data from the Italian biomarker ATLAS database.
ESMO open | 2024-09-01 | PMID 39214048
Reale M L, Passiglia F, Cappuzzo F and 27 more
A phase II study of tepotinib in patients with advanced solid cancers harboring MET exon 14 skipping mutations or amplification (KCSG AL19-17).
ESMO open | 2024-09-01 | PMID 39214049
Kang E J, Yang Y, Lee S and 15 more
The KRAS mutational spectrum and its clinical implications in pancreatic cancer.
Cancer cell | 2024-09-09 | PMID 39214093
Perelli Luigi, Genovese Giannicola, Draetta Giulio F
Distinct clinical outcomes and biological features of specific KRAS mutants in human pancreatic cancer.
Cancer cell | 2024-09-09 | PMID 39214094
McIntyre Caitlin A, Grimont Adrien, Park Jiwoon and 28 more
Genes: KRAS
Overcoming clinical BCR-ABL1 compound mutant resistance with combined ponatinib and asciminib therapy.
Cancer cell | 2024-09-09 | PMID 39214096
Eide Christopher A, Brewer Diana, Xie Tao and 13 more
Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients.
Neuropediatrics | 2024-12-01 | PMID 39214127
Proepper Christiane R, Schuetz Sofia M, Schwarz Lisa-Maria and 32 more
Role of AplaeA in the regulation of spore production and poly(malic acid) synthesis in Aureobasidium pullulans.
International journal of biological macromolecules | 2024-11-01 | PMID 39214223
Guan Jiaqi, Wang Wan, Zhang Kai and 3 more
Exploring the role of the residues into catalytic cavity of inulosucrase from Leuconostoc citreum CW28.
International journal of biological macromolecules | 2024-11-01 | PMID 39214229
Río Ingrid Mercado-Del, González-Andrade Martin, Portillo Francisco Vera-López and 1 more
The association of body weight change and regression to normoglycemia in different phenotypes of pre-diabetes: Findings of a longitudinal cohort study.
Clinical nutrition ESPEN | 2024-10-01 | PMID 39214244
Bahadoran Zahra, Mirmiran Parvin, Azizi Fereidoun and 1 more
Exploring the shared genetic basis of major depressive disorder and frailty.
Journal of affective disorders | 2024-12-01 | PMID 39214376
Fu Wei, Xu Rong, Bian Peiyu and 3 more
The effect of genetic polymorphisms in STIM1 and ORAI1 on erythropoietin resistance in Egyptian patients with end-stage renal disease.
Clinica chimica acta; international journal of clinical chemistry | 2025-01-01 | PMID 39214396
Gomaa Azza A E, Zeid Amany M A, Nagy Ibrahim M and 1 more
Comprehensive genomic profiling by liquid biopsy captures tumor heterogeneity and identifies cancer vulnerabilities in patients with RAS/BRAFV600E wild-type metastatic colorectal cancer in the CAPRI 2-GOIM trial.
Annals of oncology : official journal of the European Society for Medical Oncology | 2024-12-01 | PMID 39214459
Ciardiello D, Boscolo Bielo L, Napolitano S and 22 more
Genes: TF, KRAS, NRAS
Impact of valve-sparing aortic root replacement on aortic fluid dynamics and biomechanics in patients with syndromic heritable thoracic aortic disease.
Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance | 2000-01-01 | PMID 39214465
Dux-Santoy Lydia, Ruiz-Muñoz Aroa, Guala Andrea and 16 more
Combining Colonoscopy With Fecal Immunochemical Test Can Improve Current Familial Colorectal Cancer Colonoscopy Surveillance: A Modelling Study.
Gastroenterology | 2025-01-01 | PMID 39214503
van Wifferen Francine, Greuter Marjolein J E, van Leerdam Monique E and 9 more
Machine learning-derived phenotypic trajectories of asthma and allergy in children and adolescents: protocol for a systematic review.
BMJ open | 2024-08-30 | PMID 39214659
Lisik Daniil, Milani Gregorio Paolo, Salisu Michael and 6 more
Neuregulin1 Nuclear Signaling Influences Adult Neurogenesis and Regulates a Schizophrenia Susceptibility Gene Network within the Mouse Dentate Gyrus.
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2024-10-23 | PMID 39214704
Rajebhosale Prithviraj, Jone Alice, Johnson Kory R and 5 more
Developing a Paired Whole Genome Sequencing Service for Children With Cancer.
Clinical oncology (Royal College of Radiologists (Great Britain)) | 2025-02-01 | PMID 39214827
Sarkies L, Thomas P, Edeko E A and 4 more
Genes: NHS
Evaluation of the Effect of Menopausal Status and BMI on Polymorphisms in Fas/Fas L and the Risk of Breast Cancer.
Clinical breast cancer | 2025-01-01 | PMID 39214844
Tahmasebi Fard Zahra
Comorbidity of white matter lesions in parkinson's disease: a study on risk factors and phenotypic differences.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2025-01-01 | PMID 39214869
You Zhifei, Ma Shuyu, Xu Hui and 2 more
Detection of reproductive interference between closely related Salvia species with small-scale separated distributions by multifaceted pollination and molecular analyses.
Journal of plant research | 2024-11-01 | PMID 39214907
Nishida Sachiko, Takano Atsuko, Suyama Yoshihisa and 1 more
Histone H3.3 lysine 9 and 27 control repressive chromatin at cryptic enhancers and bivalent promoters.
Nature communications | 2024-08-30 | PMID 39214979
Trovato Matteo, Bunina Daria, Yildiz Umut and 9 more
Genome-wide analyses of neonatal jaundice reveal a marked departure from adult bilirubin metabolism.
Nature communications | 2024-08-30 | PMID 39214992
Solé-Navais Pol, Juodakis Julius, Ytterberg Karin and 20 more
Genes: UGT1A1, UGT1A4
RAS-ON inhibition overcomes clinical resistance to KRAS G12C-OFF covalent blockade.
Nature communications | 2024-08-30 | PMID 39215000
Nokin Marie-Julie, Mira Alessia, Patrucco Enrico and 21 more
Genes: KRAS
Ion occupancy of the selectivity filter controls opening of a cytoplasmic gate in the K2P channel TALK-2.
Nature communications | 2024-08-30 | PMID 39215031
Neelsen Lea C, Riel Elena B, Rinné Susanne and 10 more
Genetic evidence supporting potential causal roles of EIF4 family in breast cancer: a two-sample randomized Mendelian study.
Scientific reports | 2024-08-30 | PMID 39215053
Shi Jin-Yu, Wen Rui, Chen Jin-Yi and 6 more
Mendelian randomization reveals potential causal relationships between cellular senescence-related genes and multiple cancer risks.
Communications biology | 2024-08-31 | PMID 39215079
Qiu Xunan, Guo Rui, Wang Yingying and 3 more
TriFusion enables accurate prediction of miRNA-disease association by a tri-channel fusion neural network.
Communications biology | 2024-08-30 | PMID 39215090
Long Sheng, Tang Xiaoran, Si Xinyi and 6 more
Multistep allelic conversion in mouse pre-implantation embryos by AAV vectors.
Scientific reports | 2024-08-29 | PMID 39215103
Nickl Petr, Jenickova Irena, Elias Jan and 4 more
Longitudinal dynamics of circulating tumor DNA for treatment monitoring in patients with breast cancer recurrence.
Scientific reports | 2024-08-31 | PMID 39215119
Yoo Tae-Kyung Robyn, Lee Ji-Young, Park Hwan and 19 more
A program for real-time surveillance of SARS-CoV-2 genetics.
Scientific reports | 2024-08-30 | PMID 39215120
Brochu Hayden N, Song Kuncheng, Zhang Qimin and 28 more
Prevalence and subtyping of Blastocystis sp. in ruminants in Southwestern, Iran.
Scientific reports | 2024-08-31 | PMID 39215121
Heydarian Mahboubeh, Manouchehri Naeini Kourosh, Kheiri Soleiman and 1 more
Distinct biological signature and modifiable risk factors underlie the comorbidity between major depressive disorder and cardiovascular disease.
Nature cardiovascular research | 2024-06-01 | PMID 39215135
Bergstedt Jacob, Pasman Joëlle A, Ma Ziyan and 23 more
Unidirectional association of clonal hematopoiesis with atherosclerosis development.
Nature medicine | 2024-10-01 | PMID 39215150
Díez-Díez Miriam, Ramos-Neble Beatriz L, de la Barrera Jorge and 22 more
Integrative genetic analysis: cornerstone of precision psychiatry.
Molecular psychiatry | 2025-01-01 | PMID 39215185
Vorstman Jacob, Sebat Jonathan, Bourque Vincent-Raphaël and 1 more
Molecular classification of ovarian high-grade serous/endometrioid carcinomas through multi-omics analysis: JGOG3025-TR2 study.
British journal of cancer | 2024-11-01 | PMID 39215190
Takamatsu Shiro, Hillman R Tyler, Yoshihara Kosuke and 9 more
Specific blood metabolite associations with Gout: a Mendelian randomization study.
European journal of clinical nutrition | 2025-01-01 | PMID 39215202
Zeng Huiqiong, Lai Junda, Liu Zhihang and 2 more
Influence of selection on the probability of fixation at a locus with multiple alleles.
BMC genomics | 2024-08-30 | PMID 39215209
Overall A D J, Waxman D
Adaptation in landlocked Atlantic salmon links genetics in wild and farmed salmon to smoltification.
BMC genomic data | 2024-08-30 | PMID 39215221
R Cairnduff, E Kjærner-Semb, F Ayllon and 6 more
Comparative analysis of salinity tolerance mechanisms in two maize genotypes: growth performance, ion regulation, and antioxidant responses.
BMC plant biology | 2024-08-30 | PMID 39215238
Rizk Mosa S, Assaha Dekoum V M, Mekawy Ahmad Mohammad M and 9 more
Selection on genome-wide gene expression plasticity of rice in wet and dry field environments.
Molecular ecology | 2025-08-01 | PMID 39215462
Hamann Elena, Groen Simon C, Dunivant Taryn S and 5 more
Constant-pH MD simulations of the protonation-triggered conformational switching in diphtheria toxin translocation domain.
Biophysical journal | 2024-12-17 | PMID 39215463
Oliveira Nuno F B, Ladokhin Alexey S, Machuqueiro Miguel
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
Annals of clinical and translational neurology | 2024-09-01 | PMID 39215466
Mohan Shruthi, McNulty Shannon, Thaxton Courtney and 27 more
Genes: CAPN3, COL6A1, COL6A2, COL6A3, DAG1, POMGNT1
PRKAG2 -Related Lethal Congenital Glycogen Storage Disease of the Heart as Rare Cause of Fetal Hydrops With Bradycardia and Cardiomyopathy: Clinical Report and Literature Review.
American journal of medical genetics. Part A | 2025-01-01 | PMID 39215506
White-Brown Alexandre M, Richard Marilyn, Morency Anne-Maude and 2 more
Genes: PRKAG2
MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.
American journal of medical genetics. Part A | 2025-01-01 | PMID 39215511
Kao Eric C, Mizerik Elizabeth A, Bacino Carlos A and 3 more
Genes: MED12
The First Fetal Case of Shwachman-Diamond Syndrome Mimicking Vascular Growth Restriction.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society | 2000-01-01 | PMID 39215521
Bobric Nicoleta-Andreea, Grevoul-Fesquet Julie, Rigonnot Luc and 3 more