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 9303 of 10600

Risk-stratified Distant Metastatic Thyroid Cancer with Clinicopathological Factors and BRAF/TERT Promoter Mutations.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association | 2023-11-01 | PMID 37922948
Cheng Xian, Zhou Ying, Xu Shichen and 4 more
Prospective Clinical Prognostication of Endometrial Carcinomas Based on Next-Generation Sequencing and Immunohistochemistry-Real-World Implementation and Results at a Tertiary Care Center.
International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists | 2024-07-01 | PMID 37922951
Davies Kurtis D, Smith Lynelle P, Guimaraes-Young Amy and 8 more
The association of cytokines genes (IL-6 and IL-10) with the susceptibility to schizophrenia: A systematic review and meta-analysis.
Brain research | 2024-01-01 | PMID 37923001
Beatriz González-Castro Thelma, Alfonso Tovilla-Zárate Carlos, Esther Juárez-Rojop Isela and 3 more
Population genetics of Artemia urmiana species complex (Crustacea, Anostraca): A group with asymmetrical dispersal and gene flow mediated by migratory waterfowl.
Gene | 2024-02-05 | PMID 37923096
Li Wen-Jie, Guo Yan, Sun Shi-Chun
One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study.
Clinica chimica acta; international journal of clinical chemistry | 2024-01-01 | PMID 37923102
Nunziato Marcella, Starnone Flavio, Giordano Sonia and 9 more
Kinome profiling identifies MARK3 and STK10 as potential therapeutic targets in uveal melanoma.
The Journal of biological chemistry | 2023-12-01 | PMID 37923138
Baqai Usman, Kurimchak Alison M, Trachtenberg Isabella V and 12 more
Tubular aggregate myopathy causing progressive fatiguable weakness.
Practical neurology | 2024-03-19 | PMID 37923376
Fan Qihua, Gwathmey Kelly, Du Xinli and 2 more
Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy.
Journal of medical genetics | 2024-03-21 | PMID 37923380
Gu Xinyu, Yu Jiaxi, Jiao Kexin and 15 more
Genes: NUTM2B, GIPC1, LRP12, NOTCH2NLC, RILPL1
The Atoh1-Cre Knock-In Allele Ectopically Labels a Subpopulation of Amacrine Cells and Bipolar Cells in Mouse Retina.
eNeuro | 2023-11-01 | PMID 37923392
Wu Sih-Rong, Zoghbi Huda Y
Adherence to a healthy lifestyle, genetic susceptibility to abdominal obesity, cardiometabolic risk markers, and risk of coronary heart disease.
The American journal of clinical nutrition | 2023-11-01 | PMID 37923500
Wang Mengyao, Au Yeung Shiu Lun, Luo Shan and 7 more
Cholesterol-rich dietary pattern during early pregnancy and genetic variations of cholesterol metabolism genes in predicting gestational diabetes mellitus: a nested case-control study.
The American journal of clinical nutrition | 2023-11-01 | PMID 37923501
Cui Ningning, Li Yan, Huang Shanshan and 8 more
Multimodel habitats constructed by perfusion and/or diffusion MRI predict isocitrate dehydrogenase mutation status and prognosis in high-grade gliomas.
Clinical radiology | 2024-01-01 | PMID 37923627
Liu J, Cong C, Zhang J and 7 more
[Genetic counselling and testing in pulmonary arterial hypertension - A consensus statement on behalf of the International Consortium for Genetic Studies in PAH - French version].
Revue des maladies respiratoires | 2000-01-01 | PMID 37923650
Montani D, Eichstaedt C A, Belge C and 9 more
Construction of Streptomyces coelicolor A3(2) mutants that exclusively produce NA4/NA6 intermediates of agarose metabolism through mutation induction.
Scientific reports | 2023-11-03 | PMID 37923760
Kim Jina, Kim Eun Joo, Ko Hye-Jeong and 5 more
Quantification of rare somatic single nucleotide variants by droplet digital PCR using SuperSelective primers.
Scientific reports | 2023-11-03 | PMID 37923774
Pablo-Fontecha Verónica, Hernández-Illán Eva, Reparaz Andrea and 15 more
Development and validation of allele-specific PCR-based SNP typing in a gene on chromosome D03 conferring resistance to Fusarium wilt race 4 in Upland cotton (Gossypium hirsutum).
Molecular genetics and genomics : MGG | 2023-11-01 | PMID 37923792
Zhang Jinfa, Zhu Yi, Wheeler Terry and 1 more
Estimating optimum and base selection indices in plant and animal breeding programs by development new and simple SAS and R codes.
Scientific reports | 2023-11-03 | PMID 37923801
Rahimi Mehdi, Debnath Sandip
HLA allele-calling using multi-ancestry whole-exome sequencing from the UK Biobank identifies 129 novel associations in 11 autoimmune diseases.
Communications biology | 2023-11-03 | PMID 37923823
Butler-Laporte Guillaume, Farjoun Joseph, Nakanishi Tomoko and 19 more
Pseudomonas carnis isolated from blue discolored fresh cheese and insights into the phylogeny.
World journal of microbiology & biotechnology | 2023-11-04 | PMID 37923846
Rodrigues Rafaela da Silva, Machado Solimar Gonçalves, de Carvalho Antônio Fernandes and 1 more
The inverse association between DNA gaps and HbA1c levels in type 2 diabetes mellitus.
Scientific reports | 2023-11-03 | PMID 37923892
Thongsroy Jirapan, Mutirangura Apiwat
In silico SNP prediction of selected protein orthologues in insect models for Alzheimer's, Parkinson's, and Huntington's diseases.
Scientific reports | 2023-11-03 | PMID 37923901
Al-Ayari Eshraka A, Shehata Magdi G, El-Hadidi Mohamed and 1 more
Genetic predisposition to white blood cells in relation to the risk of frailty.
Aging clinical and experimental research | 2023-12-01 | PMID 37923935
Wu Li, Zhao Xiao-Hong, Zhou Shi-Xian and 1 more
Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series.
Journal of neurology | 2024-03-01 | PMID 37923938
Pugliese Alessia, Della Marina Adela, de Paula Estephan Eduardo and 9 more
Virulence genotype and phenotype of two clinical isolates of Arcobacter butzleri obtained from patients with different pathologies.
Archives of microbiology | 2023-11-04 | PMID 37923944
Baztarrika Itsaso, Salazar-Sánchez Adrián, Hernaez Crespo Silvia and 5 more
Estimating microhaplotype allele frequencies from low-coverage or pooled sequencing data.
BMC bioinformatics | 2023-11-03 | PMID 37923981
Delomas Thomas A, Willis Stuart C
Diallel analysis of cowpea (Vigna unguiculata (L.) Walp.) genotypes under water deficit stress.
BMC plant biology | 2023-11-03 | PMID 37923986
Ezin Vincent, Tossou Thibaut A W, Chabi Ifagbémi Bienvenue and 1 more
Genetic diversity and population structure of modern wheat (Triticum aestivum L.) cultivars in Henan Province of China based on SNP markers.
BMC plant biology | 2023-11-04 | PMID 37924000
Tang Wenjing, Dong Zhongdong, Gao Lifeng and 5 more
A potential candidate gene associated with the angles of the ear leaf and the second leaf above the ear leaf in maize.
BMC plant biology | 2023-11-04 | PMID 37924003
Kuang Tianhui, Hu Can, Shaw Ranjan Kumar and 6 more
Clinical relevance of circulating ESR1 mutations during endocrine therapy for advanced hormone-dependent endometrial carcinoma.
BMC cancer | 2023-11-03 | PMID 37924026
Drouyer Aurélien, Beaussire Ludivine, Jorda Pauline and 7 more
DNA damage response and repair gene mutations are associated with tumor mutational burden and outcomes to platinum-based chemotherapy/immunotherapy in advanced NSCLC patients.
Diagnostic pathology | 2023-11-03 | PMID 37924135
Gu Weiguang, Zhuang Wenya, Zhuang Mengxia and 2 more
Limitations of the human iPSC-derived neuron model for early-onset Alzheimer's disease.
Molecular brain | 2023-11-03 | PMID 37924159
Valdes Phoebe, Henry Kenneth W, Fitzgerald Michael Q and 7 more
Isolation and Characterization of Monomeric Human RAD51: A Novel Tool for Investigating Homologous Recombination in Cancer.
Angewandte Chemie (International ed. in English) | 2023-12-18 | PMID 37924230
Rinaldi Francesco, Schipani Fabrizio, Balboni Beatrice and 11 more
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Genetics in medicine : official journal of the American College of Medical Genetics | 2024-02-01 | PMID 37924258
Brunet Theresa, Zott Benedikt, Lieftüchter Victoria and 46 more
Genetic Association Between ICAM-1 Gene Variants and Susceptibility to Ischemic Cardiomyopathy.
Journal of cardiovascular pharmacology | 2024-02-01 | PMID 37924289
Naman Tuersunjiang, Abuduhalike Refukaiti, Abudouwayiti Aihaidan and 3 more
Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing.
JAMA oncology | 2024-02-01 | PMID 37924330
Horton Carolyn, Hoang Lily, Zimmermann Heather and 11 more
Thermographic examination of gingival phenotypes: correlation between morphological and thermal parameters.
Clinical oral investigations | 2023-12-01 | PMID 37924357
Bezerra de Melo Niebla, Sobreira Duarte Lígia Natália, Maia Vieira Pereira Camila and 4 more
Computational saturation mutagenesis to explore the effect of pathogenic mutations on extra-cellular domains of TREM2 associated with Alzheimer's and Nasu-Hakola disease.
Journal of molecular modeling | 2023-11-04 | PMID 37924367
Swain Preety Sthutika, Panda Sunita, Pati Sanghamitra and 1 more
Identification of genetic variants affecting reproduction traits in Vrindavani cattle.
Mammalian genome : official journal of the International Mammalian Genome Society | 2024-03-01 | PMID 37924370
Gangwar Munish, Kumar Subodh, Ahmad Sheikh Firdous and 4 more
Genes: ADAM2, ADAM32, AP3B1, CHST8, DPP8, DTNA, ITGB5, KCNQ1
Development of a highly efficient prime editor system in mice and rabbits.
Cellular and molecular life sciences : CMLS | 2023-11-04 | PMID 37924393
Qian Yuqiang, Wang Di, Niu Wenchao and 8 more
Effect of Metformin on Epidermal Neural Crest Stem Cells and Their Potential Application in Ameliorating Paclitaxel-induced Neurotoxicity Phenotype.
Stem cell reviews and reports | 2024-01-01 | PMID 37924435
Khodabakhsh Pariya, Asgari Taei Afsaneh, Shafaroodi Hamed and 2 more
Agro-morphological and structural diversity of rice germplasm revealed by SSR markers in Benin Republic.
Molecular biology reports | 2023-12-01 | PMID 37924445
Sedah Paulin, Djedatin Lambert Gustave, Loko Laura Yêyinou Estelle and 6 more
Novel pathogenic WHRN variant causing hearing loss in a moroccan family.
Molecular biology reports | 2023-12-01 | PMID 37924449
AitRaise Imane, Amalou Ghita, Redouane Salaheddine and 6 more
Genetic polymorphisms in VEGFA and VEGFR2 genes associated with coronary heart disease susceptibility and severity.
Molecular biology reports | 2023-12-01 | PMID 37924452
Hajer Foddha, Hana Saoud, Saoussen Chouchene and 6 more
Genetic preservation of SLC22A3 in the Admixed and Xhosa populations living in the Western Cape.
Molecular biology reports | 2023-12-01 | PMID 37924453
Pearce Brendon, Jacobs Clifford, Benjeddou Mongi
A systematic review regarding the prevalence of malignancy in patients with the hyper-IgE syndrome.
Clinical and experimental medicine | 2023-12-01 | PMID 37924455
Mohammadi Tayebeh, Azizi Gholamreza, Rafiemanesh Hosein and 3 more
A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency.
Journal of molecular neuroscience : MN | 2023-12-01 | PMID 37924468
Elbagoury Nagham M, Abdel-Aleem Asmaa F, Sharaf-Eldin Wessam E and 2 more
Blood T cell phenotypes correlate with fatigue severity in post-acute sequelae of COVID-19.
Infection | 2024-04-01 | PMID 37924472
Pink Isabell, Hennigs Jan K, Ruhl Louisa and 12 more
Prognosis of CDKN2A germline mutation in patients with familial melanoma: a systematic review and meta-analysis.
Melanoma research | 2024-02-01 | PMID 37924530
Taibo Ana, Paradela Sabela, Suanzes-Hernández Jorge and 3 more
A case of Brugada phenocopy alteration induced by immune checkpoint inhibitors.
Journal of electrocardiology | 2000-01-01 | PMID 37924699
Zhang Jianming, Jin Huayong
Cross-disorder GWAS meta-analysis of endocannabinoid DNA variations in major depressive disorder, bipolar disorder, attention deficit hyperactivity disorder, autism spectrum disorder, and schizophrenia.
Psychiatry research | 2023-12-01 | PMID 37924773
Kim Helena K, Gonçalves Vanessa F, Husain Muhammad I and 4 more
Inhibition of chloride intracellular channel protein 1 (CLIC1) ameliorates liver fibrosis phenotype by activating the Ca2+-dependent Nrf2 pathway.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie | 2023-12-01 | PMID 37924785
Ko Minjeong, Jung Hoe-Yune, Lee Dohyun and 6 more
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.
American journal of human genetics | 2023-12-07 | PMID 37924809
Rios Jonathan J, Li Yang, Paria Nandina and 19 more
Fanconi anemia-associated mutation in RAD51 compromises the coordinated action of DNA-binding and ATPase activities.
The Journal of biological chemistry | 2023-12-01 | PMID 37924868
Liu Sijia, Shinohara Akira, Furukohri Asako
Clinical, Genotypic, and Imaging Characterization of the Spectrum of ABCA4 Retinopathies.
Ophthalmology. Retina | 2024-05-01 | PMID 37924945
Romano Francesco, Lamanna Francesca, Boon Camiel J F and 9 more
Genes: ABCA4, RPE, ERG
Underlying mechanism of atrial fibrillation-associated Nppa-I137T mutation and cardiac effect of potential drug therapy.
Heart rhythm | 2024-02-01 | PMID 37924963
Huang Yan, Wang Ling-Ling, Liu Zhe-Bo and 7 more
MUC1-C Is a Common Driver of Acquired Osimertinib Resistance in NSCLC.
Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer | 2024-03-01 | PMID 37924972
Haratake Naoki, Ozawa Hiroki, Morimoto Yoshihiro and 16 more
Clinical significance of mutations in dihydropteroate synthase in Pneumocystis jirovecii pneumonia among non-HIV-infected patients.
International journal of antimicrobial agents | 2024-01-01 | PMID 37925109
Liao Ting-Yu, Huang Yu-Tsung, Lee Tai-Fen and 3 more
Genetic diversity and natural selection of apical membrane antigen-1 (ama-1) in Cameroonian Plasmodium falciparum isolates.
Gene | 2024-02-05 | PMID 37925116
Hawadak Joseph, Kojom Foko Loick Pradel, Dongang Nana Rodrigue Roman and 4 more
Longitudinal Effects of Elexacaftor/Tezacaftor/Ivacaftor: Multidimensional Assessment of Neuropsychological Side Effects and Physical and Mental Health Outcomes in Adolescents and Adults.
Chest | 2024-04-01 | PMID 37925143
Graziano Sonia, Boldrini Francesca, Pellicano Gaia Romana and 10 more
Understanding endoscopic and clinicopathological features of patients with very early onset inflammatory bowel disease: Results from a decade of study.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver | 2024-01-01 | PMID 37925254
Ye Ziqing, Wang Yuhuan, Tang Zifei and 7 more
Genes: IL10RA, TNFAIP3
Traits-based approach: leveraging genome size in plant-microbe interactions.
Trends in microbiology | 2024-04-01 | PMID 37925351
Zhang Haiyang, Liu Hongwei, Han Xingguo
Ledipasvir/Sofosbuvir in Hepatitis C Virus-Infected Children With Hematological Malignancies: A Pharmacokinetic Study.
Clinical therapeutics | 2024-01-01 | PMID 37925363
AbdelMagid Aya M, Abbassi Maggie M, Ebeid Fatma S and 2 more
The AIRN lncRNA is imprinted and paternally expressed in pigs.
Journal of animal science | 2023-01-03 | PMID 37925372
Ahn Jinsoo, Hwang In-Sul, Park Mi-Ryung and 3 more
Natural language processing diagnosed behavioural disturbance phenotypes in the intensive care unit: characteristics, prevalence, trajectory, treatment, and outcomes.
Critical care (London, England) | 2023-11-04 | PMID 37925406
Young Marcus, Holmes Natasha E, Kishore Kartik and 5 more
The radiation continuum and the evolution of frog diversity.
Nature communications | 2023-11-04 | PMID 37925440
Morinaga Gen, Wiens John J, Moen Daniel S
Mutational spectra are associated with bacterial niche.
Nature communications | 2023-11-04 | PMID 37925514
Ruis Christopher, Weimann Aaron, Tonkin-Hill Gerry and 7 more
Naturally occurring canine laminopathy leading to a dilated and fibrosing cardiomyopathy in the Nova Scotia Duck Tolling Retriever.
Scientific reports | 2023-11-04 | PMID 37925523
Bannasch Danika L, Oertle Danielle T, Vo Julia and 8 more
Pharmacogenetic and clinical predictors of voriconazole concentration in hematopoietic stem cell transplant recipients receiving CYP2C19-guided dosing.
The pharmacogenomics journal | 2023-11-01 | PMID 37925536
Patel Jai N, Robinson Myra, Morris Sarah A and 9 more
Comprehensive analysis of genes associated with migraine in the Indian population: a meta-analysis of genetic association studies with trial sequential analysis.
Scientific reports | 2023-11-04 | PMID 37925562
Sudershan Amrit, Pushap Agar Chander, Bhagat Meenakshi and 4 more
Complete Loss of RelA and SpoT Homologs in Arabidopsis Reveals the Importance of the Plastidial Stringent Response in the Interplay between Chloroplast Metabolism and Plant Defense Response.
Plant & cell physiology | 2024-05-14 | PMID 37925598
Inazu Masataka, Nemoto Takanari, Omata Yuto and 6 more
Protocol for isolation of signet ring cells from human gastric mucosa.
STAR protocols | 2023-12-15 | PMID 37925632
Samaranayake Sarah G, Gamble Lauren A, Bowden Cassidy and 6 more
Cognitive and motor profiles as prodromal markers in predicting phenoconversion and phenotype in isolated REM sleep behavior disorder.
Sleep medicine | 2023-12-01 | PMID 37925853
Zhang Xuan, Liang Danqi, Ma Li and 7 more
Development of molecular assays for the analysis of genetic relationships of Mycoplasma iowae.
Veterinary microbiology | 2023-12-01 | PMID 37925876
Buni Dominika, Kovács Áron Botond, Földi Dorottya and 13 more
Detecting acquired V-Raf murine sarcoma viral oncogene homolog B1 V600E mutation associated with osimertinib resistance in epidermal growth factor receptor-mutant lung adenocarcinoma: A case report.
Respiratory investigation | 2024-01-01 | PMID 37925883
Hagihara Yoko, Suetsugu Takayuki, Uto Hirotaka and 7 more
Causal association of COVID-19 with brain structure changes: Findings from a non-overlapping 2-sample Mendelian randomization study.
Journal of the neurological sciences | 2023-11-15 | PMID 37925898
Ding Pingjian, Xu Rong
MetaboliteCOVID: A manually curated database of metabolite markers for COVID-19.
Computers in biology and medicine | 2023-12-01 | PMID 37925911
Ren Liping, Ning Lin, Yang Yu and 8 more
Posttranslational modifications of keratins and their associated proteins as therapeutic targets in keratin diseases.
Current opinion in cell biology | 2023-12-01 | PMID 37925932
Li Pei, Rietscher Katrin, Jopp Henriette and 2 more
Shikonin Exerts an Antileukemia Effect against FLT3-ITD Mutated Acute Myeloid Leukemia Cells via Targeting FLT3 and Its Downstream Pathways.
Acta haematologica | 2024-01-01 | PMID 37926079
Zhao Mu-Nan, Su Long, Song Fei and 5 more
Clinical Phenotypes and Molecular Characteristics of Respiratory Syncytial Virus in Adults: A Monocentric Prospective Study Between 2019 and 2022.
The Journal of infectious diseases | 2024-03-14 | PMID 37926099
Bay Pierre, Loegel Cloé, Ly Arnaud and 8 more
A rare homozygous variant in TERT gene causing variable bone marrow failure, fragility fractures, rib anomalies and extremely short telomere lengths with high serum IgE.
British journal of haematology | 2024-03-01 | PMID 37926112
Elbadry Mahmoud I, Tawfeek Ahmed, Hirano Tomonori and 6 more
Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease: The RAPSODI study.
Neurobiology of disease | 2023-11-01 | PMID 37926171
Toffoli Marco, Chohan Harneek, Mullin Stephen and 22 more
The impact of elexacaftor/tezacaftor/ivacaftor therapy on the pulmonary management of adults with cystic fibrosis: An expert-based Delphi consensus.
Respiratory medicine | 2023-12-01 | PMID 37926181
Gramegna Andrea, Aliberti Stefano, Calderazzo Maria Adelaide and 11 more
Prioritizing cardiovascular disease-associated variants altering NKX2-5 and TBX5 binding through an integrative computational approach.
The Journal of biological chemistry | 2023-12-01 | PMID 37926287
Peña-Martínez Edwin G, Pomales-Matos Diego A, Rivera-Madera Alejandro and 7 more
Explainable variational autoencoder (E-VAE) model using genome-wide SNPs to predict dementia.
Journal of biomedical informatics | 2023-12-01 | PMID 37926392
Vivek Sithara, Faul Jessica, Thyagarajan Bharat and 1 more
The PIG-A gene mutation assay in human biomonitoring and disease.
Environmental and molecular mutagenesis | 2000-01-01 | PMID 37926486
Lawrence Rachel, Munn Kathryn, Naser Hamsa and 5 more
Complement C3 as a potential drug target in periodontitis: Evidence from the cis-Mendelian randomization approach.
Journal of clinical periodontology | 2024-02-01 | PMID 37926509
Alayash Zoheir, Baumeister Sebastian-Edgar, Holtfreter Birte and 5 more
Changes in population structure and genetic diversity of Misaki horses between 2015 and 2020.
The Journal of veterinary medical science | 2023-12-19 | PMID 37926513
Kobayashi Ikuo, Nakamura Kotono, Saito Ibuki and 5 more
Talaromyces marneffei infection with IFNGR1 gene mutation in a patient with negative Anti-Interferon-γ autoantibodies.
Anais brasileiros de dermatologia | 2000-01-01 | PMID 37926601
Li Shiyang, Cao Xianwei, Guo Zhuxiu and 3 more
Increasing Reduction Potentials of Type 1 Copper Center and Catalytic Efficiency of Small Laccase from Streptomyces coelicolor through Secondary Coordination Sphere Mutations.
Angewandte Chemie (International ed. in English) | 2023-12-21 | PMID 37926680
Wang Jing-Xiang, Vilbert Avery C, Cui Chang and 5 more
Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism.
European journal of human genetics : EJHG | 2024-01-01 | PMID 37926713
Yap Patrick, Riley Lisa G, Kakadia Purvi M and 9 more
Genes: ATP2B1
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.
European journal of human genetics : EJHG | 2024-02-01 | PMID 37926714
Lagorce David, Lebreton Emeline, Matalonga Leslie and 12 more
Diffusion MRI is valuable in brainstem glioma genotyping with quantitative measurements of white matter tracts.
European radiology | 2024-05-01 | PMID 37926739
Xiao Xiong, Yang Ne, Gu Guocan and 8 more
Levodopa-carbidopa intestinal gel infusion (LCIG) in Parkinson disease with genetic mutations.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2024-04-01 | PMID 37926749
Balestrino R, Martone T, Toffoli M and 9 more
Hypomethylating agents (HMAs) show benefit in AML rather than in intermediate/high-risk MDS based on genetic mutations in epigenetic modification (EMMs): from a retrospective study.
Annals of hematology | 2024-01-01 | PMID 37926751
Wang Ruiqi, Xu Yuanyuan, Wang Bianhong and 5 more
Inflammatory comorbidities ın the largest pediatric Familial Mediterranean fever cohort: a multicenter retrospective study of Pediatric Rheumatology Academy (PeRA)-Research Group (RG).
Clinical rheumatology | 2024-01-01 | PMID 37926798
Ozdel Semanur, Coşkuner Taner, Demirkan Fatmagül and 14 more
Genetic association between interleukin-17 and susceptibility to rheumatoid arthritis.
BMC medical genomics | 2023-11-06 | PMID 37926850
Zhao Rong, Zhang Yi-Wen, Yao Jia-Yuan and 5 more
FUS gene mutation in amyotrophic lateral sclerosis: a new case report and systematic review.
Amyotrophic lateral sclerosis & frontotemporal degeneration | 2024-02-01 | PMID 37926865
Xiao Xin, Li Min, Ye Zhi and 3 more
Genes: FUS
Frequency of <em>TP53</em> Mutation in B-Cell Chronic Lymphocytic Leukaemia and its Association with Lymphocyte Doubling Time.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP | 2023-11-01 | PMID 37926876
Ali Syeda Mah, Irfan Syed Muhammad, Raza Naila
Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.
Movement disorders : official journal of the Movement Disorder Society | 2023-12-01 | PMID 37926948
Daida Kensuke, Funayama Manabu, Billingsley Kimberley J and 16 more
Evaluation of Supervised Machine Learning Algorithms and Computational Structural Validation of Single Nucleotide Polymorphisms Related to Acute Liver Injury with Paracetamol.
Current drug metabolism | 2023-01-01 | PMID 37927072
Sridharan Kannan, Balasundaram Ambritha, Kumar D Thirumal and 1 more