Unusual Findings in a Patient With Carney Complex due to a Novel PRKAR1A Mutation.
Anticancer research | 2022-12-01 | PMID 36456122
Friedrich Reinhard E, Zenker Martin
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 9056 of 10600
Genetic Predisposition to Male Breast Cancer: A Case Series.
Anticancer research | 2022-12-01 | PMID 36456130
Apessos Angela, Agiannitopoulos Konstantinos, Pepe Georgia and 22 more
Clinicopathological and genetic analyses of pulmonary enteric adenocarcinoma.
Journal of clinical pathology | 2024-01-18 | PMID 36456172
Okada Fumi, Takeda Maiko, Fujii Tomomi and 10 more
Gait Abnormalities and Aberrant D2 Receptor Expression and Signaling in Mice Carrying the Human Pathogenic Mutation DRD2I212F.
Molecular pharmacology | 2023-03-01 | PMID 36456191
Rodriguez-Contreras Dayana, Gong Sheng, Lebowitz Joseph J and 7 more
Abundant copathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP-43 inclusions and ageing-related tau astrogliopathy in a family with a GBE1 mutation.
Neuropathology and applied neurobiology | 2023-02-01 | PMID 36456471
Uemura Maiko T, Suh Eun Ran, Robinson John L and 7 more
[Identification and functional analysis of combined oxidative phosphorylation deficiency 28 gene mutation].
Zhonghua nei ke za zhi | 2022-12-01 | PMID 36456512
Shi P, Cheng Y P, Li Z Y and 7 more
[A novel mutation of SPAST gene in a hereditary spastic paraplegia type 4 family].
Zhonghua nei ke za zhi | 2022-12-01 | PMID 36456515
Zhang L P, Wang Y F
SCALP syndrome with a germline heterozygous DOCK6 mutation and somatic mosaic NRAS Q61R mutation.
Pediatric dermatology | 2000-01-01 | PMID 36456540
Meyer Summer N, Simmons Elanee M, McPherson John D and 2 more
Identification of a novel peptide ligand for the cancer-specific receptor mutation EGFRvIII using high-throughput sequencing of phage-selected peptides.
Scientific reports | 2022-12-01 | PMID 36456600
Mansour Sourour, Adhya Indranil, Lebleu Coralie and 7 more
Non‑small cell lung cancer carrying PBRM1 mutation suggests an immunologically cold phenotype leading to immunotherapy failure even with high TMB.
Scientific reports | 2022-12-01 | PMID 36456601
Miao Xia-Ye, Wu Hao, Ye Bi-Cheng and 6 more
Moss establishment success is determined by the interaction between propagule size and species identity.
Scientific reports | 2022-12-01 | PMID 36456649
Hurtado Fernando, Estébanez Belén, Aragón Pedro and 3 more
Retrospective analyses of clinical features in 28 Chinese patients with type V osteogenesis imperfecta: new perspectives in an old issue.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA | 2023-02-01 | PMID 36456709
Tan Zhijia, Shek Hiu Tung, Dong Zhongxin and 8 more
Mutations in SARS-CoV-2 spike protein impair epitope-specific CD4+ T cell recognition.
Nature immunology | 2022-12-01 | PMID 36456735
Tye Emily X C, Jinks Elizabeth, Haigh Tracey A and 10 more
Diagnostic utility of neurofilament markers for MND is limited in restricted disease phenotype and for differentiation from compressive myeloradiculopathies.
Journal of neurology | 2023-03-01 | PMID 36456758
Baumgartner Daniel, Mazanec Radim, Hanzalová Jitka
A high-throughput multispectral imaging system for museum specimens.
Communications biology | 2022-12-01 | PMID 36456867
Chan Wei-Ping, Rabideau Childers Richard, Ashe Sorcha and 11 more
Two phenotypes of chronic recurrent multifocal osteomyelitis with different patterns of bone involvement.
Pediatric rheumatology online journal | 2022-12-01 | PMID 36456962
Cebecauerová Dita, Malcová Hana, Koukolská Veronika and 8 more
Vectorial capacity and TEP1 genotypes of Anopheles gambiae sensu lato mosquitoes on the Kenyan coast.
Parasites & vectors | 2022-12-01 | PMID 36457004
Bartilol Brian, Omuoyo Donwilliams, Karisa Jonathan and 5 more
APOE genotype and biological sex regulate astroglial interactions with amyloid plaques in Alzheimer's disease mice.
Journal of neuroinflammation | 2022-12-01 | PMID 36457019
Stephen T L, Breningstall B, Suresh S and 2 more
The dental phenotype of primary dentition in SATB2-associated syndrome: a report of three cases and literature review.
BMC oral health | 2022-11-22 | PMID 36457071
Li Xiaojing, Ye Xiaowei, Su Jimei
Comprehensive microRNA analysis across genome-edited colorectal cancer organoid models reveals miR-24 as a candidate regulator of cell survival.
BMC genomics | 2022-12-01 | PMID 36457077
Villanueva Jonathan W, Kwong Lawrence, Han Teng and 6 more
Mutation of gdpS gene induces a viable but non-culturable state in Staphylococcus epidermidis and changes in the global transcriptional profile.
BMC microbiology | 2022-12-01 | PMID 36457079
Zhu Tao, Wang Wei, Wang Han and 3 more
Phenotypic findings and pregnancy outcomes of fetal rare autosomal aneuploidies detected using chromosomal microarray analysis.
Human genomics | 2022-12-01 | PMID 36457118
Hu Rong, Huang Weiwei, Zhou Weining and 7 more
An AGS-associated mutation in ADAR1 catalytic domain results in early-onset and MDA5-dependent encephalopathy with IFN pathway activation in the brain.
Journal of neuroinflammation | 2022-12-01 | PMID 36457126
Guo Xinfeng, Steinman Richard A, Sheng Yi and 3 more
Antenatal Hyperechogenic Colon and Cystinuria.
Clinical pediatrics | 2023-06-01 | PMID 36457163
Mekik Akar Ece, Özçakar Zeynep Birsin, Çakar Nilgün and 3 more
Phenological response to climate variation in a northern red oak plantation: Links to survival and productivity.
Ecology | 2023-03-01 | PMID 36457179
Knott Jonathan A, Liang Liang, Dukes Jeffrey S and 2 more
rs12329760 Polymorphism in Transmembrane Serine Protease 2 Gene and Risk of Coronavirus Disease 2019 Mortality.
BioMed research international | 2022-01-01 | PMID 36457338
Beheshti Shirazi Saeedeh Sadat, Sakhaee Fatemeh, Sotoodehnejadnematalahi Fattah and 4 more
In-depth investigation of the point mutation pattern of HIV-1.
Frontiers in cellular and infection microbiology | 2022-01-01 | PMID 36457853
Sun Nan, Yau Stephen S-T
Dimensionality reduction approach for many-objective epistasis analysis.
Briefings in bioinformatics | 2023-01-19 | PMID 36458451
Yang Cheng-Hong, Hou Ming-Feng, Chuang Li-Yeh and 2 more
5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression.
American journal of medical genetics. Part A | 2023-03-01 | PMID 36458506
van der Lugt Neeltje Margreth, Weerts Marjolein J A, Veenma Danielle C M and 4 more
Adar1 deletion causes degeneration of the exocrine pancreas via Mavs-dependent interferon signaling.
Development (Cambridge, England) | 2023-01-15 | PMID 36458554
Rupani Dhwani N, Thege Fredrik I, Chandra Vidhi and 10 more
Single-cell genomics illustrates heterogeneous phenotypes of myocardial fibroblasts under ischemic insults.
Biochemistry and cell biology = Biochimie et biologie cellulaire | 2023-02-01 | PMID 36458696
Thankam Finosh G, La Vy, Agrawal Devendra K
Current pharmacological solutions for Behçet's syndrome.
Expert opinion on pharmacotherapy | 2023-02-01 | PMID 36458741
Ozguler Yesim, Esatoglu Sinem Nihal, Hatemi Gulen
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene.
Journal of investigative medicine high impact case reports | 2000-01-01 | PMID 36458808
Sharma Rohan, Aravindhan Akilandeswari, Puente Clara and 1 more
Global dissection of the recombination landscape in soybean using a high-density 600K SoySNP array.
Plant biotechnology journal | 2023-03-01 | PMID 36458856
Ma Xin, Fan Lei, Zhang Zhifang and 11 more
Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability and facial anomalies syndrome with distinctive genome-wide DNA hypomethylation.
Human molecular genetics | 2023-04-20 | PMID 36458887
Unoki Motoko, Velasco Guillaume, Kori Satomi and 8 more
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
Human molecular genetics | 2023-04-20 | PMID 36458889
Cooley Coleman Jessica A, Gass Jennifer M, Srikanth Sujata and 12 more
Interspecific introgression of MHC genes in Triturus newts: Evidence from multiple contact zones.
Molecular ecology | 2023-02-01 | PMID 36458894
Gaczorek Tomasz S, Marszałek Marzena, Dudek Katarzyna and 3 more
From high masked to high realized genetic load in inbred Scandinavian wolves.
Molecular ecology | 2023-04-01 | PMID 36458895
Smeds Linnéa, Ellegren Hans
Frail Phenotype in Patients With Inflammatory Bowel Disease.
Inflammatory bowel diseases | 2023-10-03 | PMID 36458964
Salvatori Silvia, Marafini Irene, Venuto Chiara and 9 more
Genome-wide association study to identify genomic loci associated with early vigor in bread wheat under simulated water deficit complemented with quantitative trait loci meta-analysis.
G3 (Bethesda, Md.) | 2023-02-09 | PMID 36458966
Rahimi Yousef, Khahani Bahman, Jamali Ali and 3 more
Neurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers.
Brain : a journal of neurology | 2023-05-02 | PMID 36458975
Finger Elizabeth, Malik Rubina, Bocchetta Martina and 34 more
Incidental molecular diagnoses and heterozygous risk alleles in a carrier screening cohort.
Genetics in medicine : official journal of the American College of Medical Genetics | 2023-02-01 | PMID 36459106
Reiner Jennifer, Rosenblum Lynne S, Xin Winnie and 3 more
Rapid and Sensitive Genotyping of SARS-CoV-2 Key Mutation L452R with an RPA-PfAgo Method.
Analytical chemistry | 2022-12-13 | PMID 36459151
Zhao Chenjie, Yang Lihong, Zhang Xue and 6 more
Development of SOS1 Inhibitor-Based Degraders to Target KRAS-Mutant Colorectal Cancer.
Journal of medicinal chemistry | 2022-12-22 | PMID 36459180
Bian Yujia, Alem Diego, Beato Francisca and 11 more
Hiding in plain sight: genetics of childhood steroid-resistant nephrotic syndrome in Sub-Saharan Africa.
Pediatric nephrology (Berlin, Germany) | 2023-07-01 | PMID 36459247
Williams Anna Elizabeth, Esezobor Christopher I, Lane Brandon M and 1 more
Pamiparib in patients with locally advanced or metastatic HER2-negative breast cancer with germline BRCA mutations: a phase II study.
Breast cancer research and treatment | 2023-02-01 | PMID 36459284
Xu Binghe, Sun Tao, Shi Yanxia and 22 more
Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E.
Journal of clinical immunology | 2023-04-01 | PMID 36459342
Duan Xiaojun, Shen Fang, Deng Yafei and 5 more
Long term ophthalmic complications of distal arthrogryposis type 5D.
Ophthalmic genetics | 2023-02-01 | PMID 36459431
Cohen Dana, Sloma Ronen, Pizem Hadas and 6 more
Association of polymorphisms in lipid and energy metabolism-related genes with fattening performance in Simmental cattle.
Animal biotechnology | 2023-12-01 | PMID 36459440
Ardicli Sena, Dincel Deniz, Samli Hale and 6 more
Genes: TG, OLR1, SCD, ANXA9, LTF, MYF5, PRKAG3
JAK/STAT blockade reverses the malignant phenotype of Hodgkin and Reed-Sternberg cells.
Blood advances | 2023-08-08 | PMID 36459489
Fernández Sara, Solórzano Jose L, Díaz Eva and 10 more
Yeast-based evolutionary modeling of androgen receptor mutations and natural selection.
PLoS genetics | 2022-12-01 | PMID 36459502
Zhang Haoran, Zhang Lu, Chen Shaoyong and 3 more
A phylogenetic approach to inferring the order in which mutations arise during cancer progression.
PLoS computational biology | 2022-12-01 | PMID 36459515
Gao Yuan, Gaither Jeff, Chifman Julia and 1 more
Spatially Resolved Single-Cell Assessment of Pancreatic Cancer Expression Subtypes Reveals Co-expressor Phenotypes and Extensive Intratumoral Heterogeneity.
Cancer research | 2023-02-03 | PMID 36459568
Williams Hannah L, Dias Costa Andressa, Zhang Jinming and 36 more
Genes: CLDN18, GATA6, KRT17, KRT5, S100A2, TFF1
Clinical value of identifying genes that inhibit hepatocellular carcinomas.
Expert review of molecular diagnostics | 2022-11-01 | PMID 36459631
Testa Ugo, Pelosi Elvira, Castelli Germana
Harnessing enhanced CRISPR/Cas12a trans-cleavage activity with extended reporters and reductants for early diagnosis of Helicobacter pylori, the causative agent of peptic ulcers and stomach cancer.
Biosensors & bioelectronics | 2023-02-15 | PMID 36459819
Habimana Jean de Dieu, Mukama Omar, Chen Guiquan and 14 more
Generation of induced pluripotent stem cell(iPSC)line CJUHi001-A derived peripheral blood mononuclear cells of spinocerebellar ataxia type 1(SCA1) the CAG repeat mutation in ATXN1 gene.
Stem cell research | 2023-02-01 | PMID 36459834
Jin Yinshi, Nan Guangxian
Optic nerve lesion length is a biomarker of visual disability in the pre-chronic phase of Leber's hereditary optic neuropathy.
Clinical neurology and neurosurgery | 2023-01-01 | PMID 36459841
Zhao Juan, Sun Houliang, Zhu Hongyu and 2 more
Plasma phospholipid arachidonic acid in relation to non-alcoholic fatty liver disease: Mendelian randomization study.
Nutrition (Burbank, Los Angeles County, Calif.) | 2023-02-01 | PMID 36459845
Chen Jie, Ruan Xixian, Sun Yuhao and 3 more
Heterogeneity and Clinical Effect of Epidermal Growth Factor Receptor in Primary Lung and Brain Metastases of Nonsmall Cell Lung Cancer.
The Journal of surgical research | 2023-03-01 | PMID 36459860
Xu Shuonan, Zhu Jianfei, Zhong Daixing and 4 more
Addressing the challenges of polygenic scores in human genetic research.
American journal of human genetics | 2022-12-01 | PMID 36459976
Novembre John, Stein Catherine, Asgari Samira and 7 more
A minimal role for synonymous variation in human disease.
American journal of human genetics | 2022-12-01 | PMID 36459978
Dhindsa Ryan S, Wang Quanli, Vitsios Dimitrios and 7 more
Functional characterization of 5p15.33 risk locus in uveal melanoma reveals rs452384 as a functional variant and NKX2.4 as an allele-specific interactor.
American journal of human genetics | 2022-12-01 | PMID 36459980
Derrien Anne-Céline, Houy Alexandre, Ganier Olivier and 13 more
Subclonal mutations in epigenetic regulators bring fitness in times of stress.
Cancer cell | 2023-01-09 | PMID 36459996
Shen Hui
SDPRX: A statistical method for cross-population prediction of complex traits.
American journal of human genetics | 2023-01-05 | PMID 36460009
Zhou Geyu, Chen Tianqi, Zhao Hongyu
Overall survival with first-line atezolizumab in combination with vemurafenib and cobimetinib in BRAFV600 mutation-positive advanced melanoma (IMspire150): second interim analysis of a multicentre, randomised, phase 3 study.
The Lancet. Oncology | 2023-01-01 | PMID 36460017
Ascierto Paolo A, Stroyakovskiy Daniil, Gogas Helen and 16 more
Universal hydrolysis probe-based approach for specific detection and genotyping of foodborne pathogens.
Journal of microbiological methods | 2023-01-01 | PMID 36460092
Velez Frank J, Bosilevac Joseph M, Mishra Abhinav and 1 more
Morphological and antioxidant responses of Cicer arietinum L. genotypes exposed to combination stress of anthracene and sodium chloride.
Chemosphere | 2023-02-01 | PMID 36460161
Kaur Harleen, Kaur Ravneet, Singh Swapnil and 5 more
Genetic basis of nephrogenic diabetes insipidus.
Molecular and cellular endocrinology | 2023-01-15 | PMID 36460218
Hureaux Marguerite, Vargas-Poussou Rosa
The imbalance of circulating monocyte subgroups with a higher proportion of the CD14+CD16+CD163+ phenotype in patients with preeclampsia.
Immunology letters | 2023-01-01 | PMID 36460232
Gong Fengyan, Wang Junwei, Lu Nianhong and 5 more
Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review.
European journal of medical genetics | 2023-01-01 | PMID 36460282
Yu Chaonan, Lyn Nan, Li Dongxiao and 3 more
The impact of angiotensin converting enzyme insertion/deletion gene polymorphism on diabetic kidney disease: A debatable issue.
Nefrologia | 2000-01-01 | PMID 36460431
Zeng Wen-Li, Yang Shi-Kun, Song Na and 1 more
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.
Neurology | 2023-03-14 | PMID 36460469
Coratti Giorgia, Ricci Martina, Capasso Anna and 40 more
A genomic assessment of the correlation between milk production traits and claw and udder health traits in Holstein dairy cattle.
Journal of dairy science | 2023-02-01 | PMID 36460501
Schneider Helen, Segelke Dierck, Tetens Jens and 2 more
Integration of Interbull's multiple across-country evaluation approach breeding values into the multiple-trait single-step random regression test-day genetic evaluation for yield traits of Australian Red breeds.
Journal of dairy science | 2023-02-01 | PMID 36460505
Boerner Vinzent, Nguyen Thuy T T, Nieuwhof Gert J
Cancer Genomics.
Archives of medical research | 2022-12-01 | PMID 36460546
Fonseca-Montaño Marco A, Blancas Susana, Herrera-Montalvo Luis A and 1 more
SFTPB (rs11130866) and NR3C1 (rs41423247) gene variants as potential clinical biomarkers for personalized treatment strategy selection in patients with severe COVID-19 pneumonia.
Respiratory investigation | 2023-01-01 | PMID 36460583
Fishchuk Liliia, Rossokha Zoia, Pokhylko Valeriy and 5 more
Budget impact analysis of next-generation sequencing versus sequential single-gene testing in Japanese patients with advanced non-small-cell lung cancer.
Respiratory investigation | 2023-01-01 | PMID 36460584
Matsuda Hiroyuki, Ogawa Toru, Sadatsuki Yasunari and 4 more
Photo-induced stress relaxation in reconfigurable disulfide-crosslinked supramolecular films visualized by dynamic wrinkling.
Nature communications | 2022-12-02 | PMID 36460720
Yan Shuzhen, Hu Kaiming, Chen Shuai and 4 more
Glutamatergic dysfunction leads to a hyper-dopaminergic phenotype through deficits in short-term habituation: a mechanism for aberrant salience.
Molecular psychiatry | 2023-02-01 | PMID 36460723
Panayi Marios C, Boerner Thomas, Jahans-Price Thomas and 7 more
The maize Ga1-s allele confers protection against ga1 pollen in popcorn and dent corn.
Scientific reports | 2022-12-02 | PMID 36460744
Moran Lauter Adrienne N, Edwards Jode W, Scott M Paul
Body shape phenotypes of multiple anthropometric traits and cancer risk: a multi-national cohort study.
British journal of cancer | 2023-02-01 | PMID 36460776
Sedlmeier Anja M, Viallon Vivian, Ferrari Pietro and 29 more
Efficacy of EGFR-Tyrosine Kinase Inhibitors for advanced non-small cell lung cancer patients harboring rare EGFR mutations of exon 18 E709X.
Medical oncology (Northwood, London, England) | 2022-12-02 | PMID 36460861
Hao Yue, Xu Manyi, Zhou Huan and 4 more
Low-rank tensor methods for Markov chains with applications to tumor progression models.
Journal of mathematical biology | 2022-12-02 | PMID 36460900
Georg Peter, Grasedyck Lars, Klever Maren and 3 more
Regional differences regarding the occurrence of falls and associated factors in two populations of Brazilian longevous people.
BMC geriatrics | 2022-12-02 | PMID 36460961
Silva Jaíza M M, da Silva Freitas Javanna Lacerda Gomes, Nóbrega Júlia Cristina Leite and 9 more
Inference about quantitative traits under selection: a Bayesian revisitation for the post-genomic era.
Genetics, selection, evolution : GSE | 2022-12-02 | PMID 36460973
Gianola Daniel, Fernando Rohan L, Schön Chris C
Genetic variant in miR-17-92 cluster binding sites is associated with esophageal squamous cell carcinoma risk in Chinese population.
BMC cancer | 2022-12-02 | PMID 36461008
Shen Yi, Shao Yi, Ruan Xiaoli and 6 more
The effect of haptoglobin genotype on the association of asymmetric dimethylarginine and DDAH 1 polymorphism with diabetic macroangiopathy.
Cardiovascular diabetology | 2022-12-02 | PMID 36461077
Wang Shiyun, Deng Zixuan, Zhang Hong and 5 more
Pan-cancer illumination of TRIM gene family reveals immunology regulation and potential therapeutic implications.
Human genomics | 2022-12-02 | PMID 36461099
Gao Yueying, Pan Tao, Xu Gang and 8 more
Rapid varietal authentication of oolong tea products by microfluidic-based SNP genotyping.
Food research international (Ottawa, Ont.) | 2022-12-01 | PMID 36461220
Lin Yi, Yu Wentao, Cai Chunping and 6 more
Genetic diversity, antibiotic resistance, and virulence profiles of Listeria monocytogenes from retail meat and meat processing.
Food research international (Ottawa, Ont.) | 2022-12-01 | PMID 36461311
Li Xin, Shi Xuening, Song Yang and 8 more
Effects of distinct n-6 to n-3 polyunsaturated fatty acid ratios on insulin resistant and AD-like phenotypes in high-fat diets-fed APP/PS1 mice.
Food research international (Ottawa, Ont.) | 2022-12-01 | PMID 36461380
Ma Xiaojun, Guo Yujie, Xu Jingjing and 5 more
Posttetanic potentiation improves neuromuscular efficiency of mouse muscle in vitro.
Physiological reports | 2022-12-01 | PMID 36461650
Laidlaw Ryan, Vandenboom Rene
Riverscape community genomics: A comparative analytical approach to identify common drivers of spatial structure.
Molecular ecology | 2023-12-01 | PMID 36461662
Zbinden Zachery D, Douglas Marlis R, Chafin Tyler K and 1 more
Evaluation of six machine learning classification algorithms in pig breed identification using SNPs array data.
Animal genetics | 2023-04-01 | PMID 36461674
Liu Ruiqi, Xu Zhiting, Teng Jinyan and 8 more
Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462.
Molecular genetics & genomic medicine | 2023-03-01 | PMID 36461789
Brady Lauren, Ballantyne Mark, Duck John and 7 more
HLA-DPB1 molecular mismatches are risk factors for acute rejection and low 5-year graft function in first kidney transplants.
HLA | 2023-03-01 | PMID 36461794
de Marco Renato, Requião-Moura Lúcio R, Raimundo Tamiris R F and 5 more
Predicting glioblastoma molecular subtypes and prognosis with a multimodal model integrating convolutional neural network, radiomics, and semantics.
Journal of neurosurgery | 2023-08-01 | PMID 36461822
Zhong Sheng, Ren Jia-Xin, Yu Ze-Peng and 17 more
RosettaDDGPrediction for high-throughput mutational scans: From stability to binding.
Protein science : a publication of the Protein Society | 2023-01-01 | PMID 36461907
Sora Valentina, Laspiur Adrian Otamendi, Degn Kristine and 12 more
Missing heritability of Wilson disease: a search for the uncharacterized mutations.
Mammalian genome : official journal of the International Mammalian Genome Society | 2023-03-01 | PMID 36462057
Roy Shubhrajit, Ghosh Sampurna, Ray Jharna and 2 more
Clinical, neuroimaging and genetic findings in children with hereditary ataxia: single center study.
Molecular biology reports | 2023-02-01 | PMID 36462087
Bildirici Yasar, Kocaaga Ayca, Yimenicioglu Sevgi