Novel homozygous mutations in TXNDC15 causing Meckel syndrome.
Molecular genetics & genomic medicine | 2024-03-01 | PMID 38156946
Deng Tianqin, Xie Yuli
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 9344 of 10600
Causal relationship between glycemic traits and bone mineral density in different age groups and skeletal sites: a Mendelian randomization analysis.
Journal of bone and mineral metabolism | 2024-01-01 | PMID 38157037
Xu Zhangmeng, Shi Yushan, Wei Changhong and 5 more
Identification of novel candidate genes associated with non-syndromic tooth agenesis in Mongolian families.
Clinical oral investigations | 2023-12-29 | PMID 38157055
Semjid Dejidnorov, Ahn Hyunsoo, Bayarmagnai Sapaar and 3 more
Mutation of TRPML1 Channel and Pathogenesis of Neurodegeneration in Haimeria.
Molecular neurobiology | 2024-08-01 | PMID 38157120
Gao Junqing, Li Huanhuan, Lv Hua and 1 more
Decitabine induces IRF7-mediated immune responses in p53-mutated triple-negative breast cancer: a clinical and translational study.
Frontiers of medicine | 2024-04-01 | PMID 38157193
Wang Haoyu, Wang Zhengyuan, Wang Zheng and 13 more
Role of rs2366152 single-nucleotide variant located in the long noncoding RNA HOTAIR gene in the cervical cancer susceptibility in a Polish population.
Journal of applied genetics | 2024-09-01 | PMID 38157198
Łaźniak Sebastian, Sowińska Anna, Roszak Andrzej and 4 more
Identification of eight genomic protective alleles for mitochondrial diabetes by Kinship-graph convolutional network.
Journal of diabetes investigation | 2024-01-01 | PMID 38157301
Wang Jiahao, Yan Dandan, Cui Haoyue and 5 more
Genetic diversity and phylogeography of Phlebotomus argentipes (Diptera: Psychodidae, Phlebotominae), using COI and ND4 mitochondrial gene sequences.
PloS one | 2023-01-01 | PMID 38157363
Wedage W Methsala Madurangi, Harischandra Iresha N, Weerasena O V D S Jagathpriya and 1 more
Deep mutational scans of XBB.1.5 and BQ.1.1 reveal ongoing epistatic drift during SARS-CoV-2 evolution.
PLoS pathogens | 2023-12-01 | PMID 38157379
Taylor Ashley L, Starr Tyler N
Remote respiratory resistance exercise training improves respiratory function in individuals with VCP multisystem proteinopathy.
Neuromuscular disorders : NMD | 2024-01-01 | PMID 38157654
Halseth Madeline, Mahoney Ryan, Hsiou Joyce and 2 more
Decreased oxytocin plasma levels and oxytocin receptor expression associated with aggressive behavior in aggressive-impulsive disorders.
Journal of psychiatric research | 2024-02-01 | PMID 38157667
Diaz-Marsá M, López-Villatoro J M, De la Torre-Luque A and 11 more
Epilepsy in KBG Syndrome: Report of Additional Cases.
Pediatric neurology | 2024-02-01 | PMID 38157719
Whitney Robyn, Komar Madeline, Yoganathan Sangeetha and 2 more
Sotorasib in KRASp.G12C mutated advanced NSCLC: Real-world data from the Italian expanded access program.
Lung cancer (Amsterdam, Netherlands) | 2024-01-01 | PMID 38157806
Passiglia Francesco, Lucia Reale Maria, Lo Russo Giuseppe and 31 more
Genome-wide association studies and polygenic risk score phenome-wide association studies across complex phenotypes in the human phenotype project.
Med (New York, N.Y.) | 2024-01-12 | PMID 38157848
Levine Zachary, Kalka Iris, Kolobkov Dmitry and 12 more
Gains of 20q11.21 in human pluripotent stem cells: Insights from cancer research.
Stem cell reports | 2024-01-09 | PMID 38157850
Krivec Nuša, Ghosh Manjusha S, Spits Claudia
Pharmacogenetics of selective serotonin reuptake inhibitors (SSRI): A serotonin reuptake transporter (SERT)-based approach.
Neurochemistry international | 2024-02-01 | PMID 38157886
Sreeja V, Jose Anju, Patel Shashikant and 3 more
Targeted mutations in the GW2.1 gene modulate grain traits and induce yield loss in barley.
Plant science : an international journal of experimental plant biology | 2024-03-01 | PMID 38157889
Kis András, Polgári Dávid, Dalmadi Ágnes and 5 more
Genotype-Phenotype Correlation in Junctional Epidermolysis Bullosa: Signposts to Severity.
The Journal of investigative dermatology | 2024-06-01 | PMID 38157931
Wen David, Hunjan Manrup, Bardhan Ajoy and 8 more
The association between blue light exposure and incidence of type 2 diabetes: A prospective study of UK biobank.
Environmental research | 2024-04-01 | PMID 38157962
Wang Cheng, Zhao Yang, Hong Qianqi and 6 more
FLECS technology for high-throughput screening of hypercontractile cellular phenotypes in fibrosis: A function-first approach to anti-fibrotic drug discovery.
SLAS discovery : advancing life sciences R & D | 2024-04-01 | PMID 38158044
Wang Yao, Cortes Enrico, Huang Ricky and 5 more
Does ergogenic effect of caffeine supplementation depend on CYP1A2 genotypes? A systematic review with meta-analysis.
Journal of sport and health science | 2024-07-01 | PMID 38158179
Wang Jieping, Dewi Luthfia, Peng Yundong and 3 more
Gaining Insights into Inherited Bleeding Disorders of Complex Etiology in Pediatric Patients: Whole-Exome Sequencing as First-Line Investigation Tool.
Thrombosis and haemostasis | 2024-07-01 | PMID 38158197
Bandini Perla, Borràs Nina, Berrueco Ruben and 8 more
Classification of germline variants identified in cancer predisposition genetic testing - consensus of the CZECANCA consortium.
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti | 2023-01-01 | PMID 38158231
Janatová M, Chvojka Š, Macháčková E and 11 more
A Retrospective Review of Children followed up with the Diagnosis of Acute Pancreatitis.
Nigerian journal of clinical practice | 2023-12-01 | PMID 38158356
Devecí U, Ünsal S K, Dogan Y
Genes: CRP
Comprehensive molecular findings in primary malignant melanoma of the esophagus: A multicenter study.
Pigment cell & melanoma research | 2024-05-01 | PMID 38158377
Deng Ling, Wang Hai-Yun, Hu Chun-Fang and 6 more
High number of candidate gene variants are identified as disease-causing in a period of 4 years.
American journal of medical genetics. Part A | 2024-05-01 | PMID 38158391
Hills Sonia, Li Qifei, Madden Jill A and 5 more
Association between vitamin D receptor gene FokI polymorphism and mortality in patients with sepsis.
Molecular biology reports | 2023-12-29 | PMID 38158430
Bozgul Sukriye Miray Kilincer, Emecen Durdugul Ayyildiz, Akarca Funda Karbek and 6 more
Unveiling the etiological impact of GST-M1, GST-T1, and P53 genotypic variations on brain carcinogenesis.
Molecular biology reports | 2023-12-29 | PMID 38158432
Dirican Onur, Kaygın Pınar, Oğuztüzün Serpil and 5 more
Granulocyte macrophage colony stimulating factor exerts dominant effects over macrophage colony stimulating factor during macrophage differentiation in vitro to induce an inflammatory phenotype.
Inflammation research : official journal of the European Histamine Research Society ... [et al.] | 2024-02-01 | PMID 38158446
Petrina Maria, Alothaimeen Torki, Bouzeineddine Nasry Zane and 4 more
SNP Analysis of TLR4 Promoter and Its Transcriptional Factor Binding Profile in Relevance to Bovine Subclinical Mastitis.
Biochemical genetics | 2024-10-01 | PMID 38158465
Bhat Rahil Razak, Bhat Nadiem Nazir, Shabir Ambreen and 7 more
UGT1A1 genotype-guided irinotecan dosing during neoadjuvant chemoradiotherapy for locally advanced rectal cancer: A prospective analysis of SN-38 concentration.
International journal of cancer | 2024-04-15 | PMID 38158593
Jiang Pei-Cheng, Wang Shuo-Wen, Li Chao and 2 more
Genes: UGT1A1
Newborn screening for primary carnitine deficiency using a second-tier genetic test.
Journal of pediatric endocrinology & metabolism : JPEM | 2024-02-26 | PMID 38158618
Lin Yiming, Lin Chunmei, Zheng Zhenzhu and 2 more
A scarab beetle (Coleoptera: Scarabaeidae) causes tree mortality, delayed growth, and yield reduction in cacao with genotype-specific susceptibility to herbivory.
Pest management science | 2024-04-01 | PMID 38158649
Porcel Mario, Miranda Tatiana C, Pisco-Ortiz Carolina and 3 more
Relationship between lipid profile and B‑type natriuretic peptide T‑381C (rs198389) gene polymorphism in patients with stable coronary artery disease.
Cellular and molecular biology (Noisy-le-Grand, France) | 2023-12-10 | PMID 38158669
Ahmed Shekha Gawhar, Asaaf Maulood Kalthum, Sabir Shekha Mudhir
Correlation between the insertion-deletion variant of the angiotensin-converting enzyme gene and various classes of heart failure.
Cellular and molecular biology (Noisy-le-Grand, France) | 2023-12-10 | PMID 38158675
Tawfeeq Rawaz D, Ismael Ava T, Alwan Mohammed H
Evaluation value and mechanism of ADRB2 and FCER1B gene polymorphisms in preterm infants with congenital respiratory diseases.
Cellular and molecular biology (Noisy-le-Grand, France) | 2023-12-10 | PMID 38158688
Liu Jiangyue, Zhu Qingwen, Jiang Hongru and 2 more
Transmission Bottleneck Size Estimation from De Novo Viral Genetic Variation.
Molecular biology and evolution | 2024-01-03 | PMID 38158742
Shi Yike Teresa, Harris Jeremy D, Martin Michael A and 1 more
Analysis of Histomorphologic/Molecular Association and Immune Checkpoint Regulators in Epithelioid Glioblastoma and Pleomorphic Xanthoastrocytoma: Are These Tumors Potential Candidates for Immune Checkpoint Blockade?
Applied immunohistochemistry & molecular morphology : AIMM | 2024-02-01 | PMID 38158760
Mahajan Swati, Singh Jyotsna, Dandapath Iman and 11 more
Genes: IDH1, ATRX, BRAF, CDKN2A, EGFR
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Genetics in medicine : official journal of the American College of Medical Genetics | 2024-04-01 | PMID 38158856
Scala Marcello, Khan Kamal, Beneteau Claire and 25 more
The study of variant s antigen expression revealing a novel c.160C>T (p.Arg54Cys) variant on GYPB*s allele associated with partial s phenotype.
Transfusion | 2024-02-01 | PMID 38158881
Wei Ling, Zhu Siying, Wen Jizhi and 3 more
[Various phenotypes of postpartum atypical hemolytic uremic syndrome: the role of genetic testing in determining prognosis. Case report].
Terapevticheskii arkhiv | 2023-08-17 | PMID 38158972
Kirsanova T V, Balakireva A I, Fedorova T A and 2 more
[A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom - skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report].
Terapevticheskii arkhiv | 2023-05-31 | PMID 38158982
Chumakova O S, Nasonova S N, Frolova Y V and 5 more
[Ala54Thr polymorphism of the fatty acid transporter gene (FABP2) in patients with type 2 diabetes mellitus in Yakutia].
Terapevticheskii arkhiv | 2023-11-23 | PMID 38159016
Sydykova L A, Pavlova N I, Bochurov A A and 4 more
A Novel Germline Mutation of BRCA1 and Integrated Analysis With Somatic Mutation in a Chinese Multi-Cancer Family.
The oncologist | 2024-06-03 | PMID 38159086
Yang Xiling, Shang Li, Yang Liren and 6 more
Genes: BRCA1, PIK3CA, TP53
Genes controlling hydrolysate toxin tolerance identified by QTL analysis of the natural Saccharomyces cerevisiae BCC39850.
Applied microbiology and biotechnology | 2024-12-01 | PMID 38159116
Sornlek Warasirin, Sonthirod Chutima, Tangphatsornruang Sithichoke and 7 more
Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2024-06-01 | PMID 38159148
de Souza Guilherme Carvalho, Malta Maria Carolina, Santos Mirele Raíssa Silva and 5 more
Presenilin2 D439A Mutation Induces Dysfunction of Mitochondrial Fusion/Fission Dynamics and Abnormal Regulation of GTPase Activity.
Molecular neurobiology | 2024-08-01 | PMID 38159198
Gao Chenhao, Shang Junkui, Sun Zhengyu and 6 more
Pityriasis Rubra Pilaris: An Updated Review of Clinical Presentation, Etiopathogenesis, and Treatment Options.
American journal of clinical dermatology | 2024-03-01 | PMID 38159213
Joshi Tejas P, Duvic Madeleine
Performance reserves in brain-imaging-based phenotype prediction.
Cell reports | 2024-01-23 | PMID 38159275
Schulz Marc-Andre, Bzdok Danilo, Haufe Stefan and 2 more
Adolescent-onset multisystem proteinopathy due to a novel VCP variant.
Neuromuscular disorders : NMD | 2024-01-01 | PMID 38159460
Soontrapa Pannathat, Seven Nathan A, Liewluck Teerin and 3 more
Hepatocytes-derived Prdx1 regulates macrophage phenotypes via TLR4 activation in acute liver injury.
International immunopharmacology | 2024-01-25 | PMID 38159556
Zhang Yujing, Zhang Xinru, Zhang Mingxun and 6 more
An exhausted-like microglial population accumulates in aged and APOE4 genotype Alzheimer's brains.
Immunity | 2024-01-09 | PMID 38159571
Millet Alon, Ledo Jose Henrique, Tavazoie Sohail F
Toenail zinc and risk of prostate cancer in the MCC-Spain case-control study.
Environmental research | 2024-03-15 | PMID 38159663
Gutiérrez-González Enrique, Pastor-Barriuso Roberto, Castelló Adela and 18 more
Genes: PC, MCC
Continuity and discontinuity in evolutionary processes with emphasis on plants.
Bio Systems | 2024-02-01 | PMID 38159673
Tapia Hector J, Dávila Patricia
Severe acute respiratory syndrome Coronavirus-2 GenoAnalyzer and mutagenic anomaly detector using FCMFI and NSCE.
International journal of biological macromolecules | 2024-02-01 | PMID 38159703
Dubey Shivendra, Verma Dinesh Kumar, Kumar Mahesh
Microsatellite markers for genotyping of Kodamaea ohmeri: Demonstrating outbreaks based on a multicenter surveillance study in China.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases | 2024-01-01 | PMID 38159712
Li Yanbing, Huang Yuyan, Kang Mei and 8 more
Changes in gut microbiota and lactose intolerance symptoms before and after daily lactose supplementation in individuals with the lactase nonpersistent genotype.
The American journal of clinical nutrition | 2024-03-01 | PMID 38159728
JanssenDuijghuijsen Lonneke, Looijesteijn Ellen, van den Belt Maartje and 5 more
Spike-Seq: An amplicon-based high-throughput sequencing approach for the sensitive detection and characterization of SARS-CoV-2 genetic variations in environmental samples.
The Science of the total environment | 2024-03-01 | PMID 38159750
Adamopoulos Panagiotis G, Diamantopoulos Marios A, Boti Michaela A and 8 more
Hypobaric hypoxia drives selection of altitude-associated adaptative alleles in the Himalayan population.
The Science of the total environment | 2024-02-25 | PMID 38159773
Sharma Samantha, Koshy Remya, Kumar Rahul and 4 more
A fibrodysplasia ossificans progressiva patient with a rare missense mutation in ACVR1 detected on 18F-FDG PET/CT.
Joint bone spine | 2024-03-01 | PMID 38159793
Ni Haopeng, Tang Songhan, Zhang Ying
Complete genomic profiles of 1496 Taiwanese reveal curated medical insights.
Journal of advanced research | 2024-12-01 | PMID 38159844
Hsu Jacob Shujui, Wu Dung-Chi, Shih Shang-Hung and 16 more
NOTCH2 promotes osteoclast maturation and metabolism and modulates the transcriptome profile during osteoclastogenesis.
The Journal of biological chemistry | 2024-02-01 | PMID 38159855
Canalis Ernesto, Schilling Lauren, Yu Jungeun and 1 more
Structural and functional interactions between the EF hand domain and S2-S3 loop in the type-1 ryanodine receptor ion channel.
The Journal of biological chemistry | 2024-02-01 | PMID 38159862
Chirasani Venkat R, Elferdink Millar, Kral MacKenzie and 4 more
Artemisinin resistance-associated gene mutations in Plasmodium falciparum: A case study of severe malaria from Mozambique.
Travel medicine and infectious disease | 2000-01-01 | PMID 38159875
Casanova Daniela, Baptista Vitória, Costa Magda and 8 more
CACNA1F-related synaptic dysfunction: challenges diagnosing congenital stationary night blindness presenting without night blindness.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie | 2024-12-01 | PMID 38159912
Dumitrescu Alina V, Pfeifer Wanda L, Arhens Monica and 2 more
Genes: CACNA1F
Time on Treatment and Survival Outcomes for Patients Treated With First-line Osimertinib vs. Other Tyrosine Kinase Inhibitors, for EGFR Mutation-positive Metastatic Non-small Cell Lung Cancer: Real-world Experience Data.
Anticancer research | 2024-01-01 | PMID 38159972
Moser Sarah Sharman, Apter Lior, Solomon Josie and 3 more
SNPs as Stochastic Oscillators in Inheritance of Human Diseases.
Anticancer research | 2024-01-01 | PMID 38160010
Chatzikyriakidou Anthoula
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2.
Journal of medical genetics | 2024-04-19 | PMID 38160042
Innella Giovanni, Ferrari Simona, Miccoli Sara and 5 more
Genes: BRCA1
Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers.
Journal of medical genetics | 2024-04-19 | PMID 38160043
Piqueras-Flores Jesús, Villacorta-Argüelles Eduardo, Galvin Joseph and 9 more
Genes: FHOD3
[A20 haploinsufficiency: what do clinicians need to know?]
La Revue de medecine interne | 2024-07-01 | PMID 38160098
Elhani I, Aouba A, Riller Q and 5 more
VEXAS syndrome: Clinical manifestations, diagnosis, and treatment.
Reumatologia clinica | 2024-01-01 | PMID 38160120
Loeza-Uribe Michelle Patricia, Hinojosa-Azaola Andrea, Sánchez-Hernández Beatriz E and 4 more
Comparison of Clinical and Genetic Characteristics Between Younger and Older Lung Cancer Patients.
Archivos de bronconeumologia | 2024-02-01 | PMID 38160163
Candal-Pedreira Cristina, Ruano-Ravina Alberto, Calvo de Juan Virginia and 21 more
Genetic Risk of Rheumatoid Arthritis: A Case Control Study.
Biochemical genetics | 2024-10-01 | PMID 38160213
Ahmad Hosam M, Zaki Zaki M, Mohamed Asmaa S and 1 more
Rapid detection of mutations in CSF-cfTNA with the Genexus Integrated Sequencer.
Journal of neuro-oncology | 2024-01-01 | PMID 38160230
Arjuna Srividya, Shah Mauli, Dono Antonio and 11 more
Impact of Measurement Noise on Genetic Association Studies of Cardiac Function.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing | 2024-01-01 | PMID 38160275
Vukadinovic Milos, Renjith Gauri, Yuan Victoria and 5 more
Transcript-aware analysis of rare predicted loss-of-function variants in the UK Biobank elucidate new isoform-trait associations.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing | 2024-01-01 | PMID 38160284
Hoffing Rachel A, Deaton Aimee M, Holleman Aaron M and 6 more
PopGenAdapt: Semi-Supervised Domain Adaptation for Genotype-to-Phenotype Prediction in Underrepresented Populations.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing | 2024-01-01 | PMID 38160290
Comajoan Cara Marçal, Mas Montserrat Daniel, Ioannidis Alexander G
LA-GEM: imputation of gene expression with incorporation of Local Ancestry.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing | 2024-01-01 | PMID 38160291
Mishra Mrinal, Nahlawi Layan, Zhong Yizhen and 4 more
EVALUATING THE RELATIONSHIPS BETWEEN GENETIC ANCESTRY AND THE CLINICAL PHENOME.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing | 2024-01-01 | PMID 38160294
Piekos Jacqueline A, Kim Jeewoo, Keaton Jacob M and 3 more
Machine Learning Strategies for Improved Phenotype Prediction in Underrepresented Populations.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing | 2024-01-01 | PMID 38160295
Bonet David, Levin May, Montserrat Daniel Mas and 1 more
Polygenic risk scores for cardiometabolic traits demonstrate importance of ancestry for predictive precision medicine.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing | 2024-01-01 | PMID 38160310
Kember Rachel L, Verma Shefali S, Verma Anurag and 8 more
Odor Identification Across Time in Mutation Carriers and Non-Carriers in Autosomal-Dominant Alzheimer's Disease.
Journal of Alzheimer's disease : JAD | 2024-01-01 | PMID 38160354
Almkvist Ove, Larsson Maria, Graff Caroline
Speciation by physiological selection of environmentally acquired traits.
The Journal of physiology | 2024-06-01 | PMID 38160438
Noble Denis, Phillips Daniel
Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset.
Seizure | 2024-02-01 | PMID 38160512
Innes Emily A, Marne Fleur Annette Le, Macintosh Rebecca and 6 more
Prognostic value of predominant subtype in pathological stage II-III lung adenocarcinoma with epidermal growth factor receptor mutation.
Lung cancer (Amsterdam, Netherlands) | 2024-02-01 | PMID 38160515
Kitagawa Shingo, Zenke Yoshitaka, Taki Tetsuro and 14 more
Inducing mutation and ascertaining lethal dosage of in vitro cultures of banana cv. Ney Poovan to ethyl methane sulfonate.
Mutation research | 2024-01-01 | PMID 38160536
Shalini Udaya C Y
Identification of novel proteins for sleep apnea by integrating genome-wide association data and human brain proteomes.
Sleep medicine | 2024-02-01 | PMID 38160582
Gui Jianxiong, Meng Linxue, Huang Dishu and 6 more
Association between maternal diet, smoking, and the placenta MTHFR 677C/T genotype and global placental DNA methylation.
Placenta | 2024-02-01 | PMID 38160599
Diaz-Garcia Hector, Vilchis-Gil Jenny, Castro-Cerritos Karla V and 6 more
Generation of human induced pluripotent stem cell lines derived from three Noonan syndrome patients from a single family carrying the heterozygous PTPN11 c.188 A > G (p.Y63C) mutation.
Stem cell research | 2024-02-01 | PMID 38160629
Sbrini Giulia, Tomasoni Zaira, Cutrì Maria Rosa and 7 more
Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.
Ophthalmic research | 2024-01-01 | PMID 38160664
Conti Giovanni Marco, Vaclavik Veronika, Rivolta Carlo and 4 more
Discrepant low von Willebrand factor activity results on the ACL TOP analyzer are frequent in unselected patients with myeloproliferative neoplasms and show no correlation with high-molecular-weight multimer loss or bleeding phenotype.
Journal of thrombosis and haemostasis : JTH | 2024-04-01 | PMID 38160725
Noye Joseph, Beggs Joanne, Mason Jane
Genes: VWF
Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders.
Gene | 2024-03-20 | PMID 38160741
Sultan Tipu, Scorrano Giovanna, Panciroli Marta and 7 more
Causal relationships between anthropometric traits, bone mineral density, osteoarthritis and spinal stenosis: A Mendelian randomisation investigation.
Osteoarthritis and cartilage | 2024-06-01 | PMID 38160745
Sobczyk Maria K, Faber Benjamin G, Southam Lorraine and 5 more
Detection and full genomic sequencing of rare hepatitis E virus genotype 4d in Italian wastewater, undetected by clinical surveillance.
The Science of the total environment | 2024-02-25 | PMID 38160838
Veneri C, Brandtner D, Mancini P and 9 more
Genetics of Cardiac Tumours: A Narrative Review.
Heart, lung & circulation | 2024-05-01 | PMID 38161083
AlRasheed Maha M
The genetic landscape of age-related hearing loss.
Trends in genetics : TIG | 2024-03-01 | PMID 38161109
Ninoyu Yuzuru, Friedman Rick A
Genetic predisposition, lifestyle inflammation score, food-based dietary inflammatory index, and the risk for incident diabetes: Findings from the KoGES data.
Nutrition, metabolism, and cardiovascular diseases : NMCD | 2024-03-01 | PMID 38161120
Lee Hye Ah, Park Hyesook, Park Bomi
Causal association between serum 25-hydroxyvitamin D levels and right ventricular structure and function: A Mendelian randomization study.
Nutrition, metabolism, and cardiovascular diseases : NMCD | 2024-05-01 | PMID 38161131
Ning Limeng, He Changjing, Zeng Qing and 2 more
Reshaping Echinocandin Antifungal Drugs To Circumvent Glucan Synthase Point-Mutation-Mediated Resistance.
Angewandte Chemie (International ed. in English) | 2024-02-26 | PMID 38161189
Jospe-Kaufman Moriah, Ben-Zeev Efrat, Mottola Austin and 4 more
The risk of concurrent malignancies in patients with multiple endocrine neoplasia type 1: insights into clinical characteristics of those with multiple endocrine neoplasia type 1.
Journal of endocrinological investigation | 2024-08-01 | PMID 38161202
Zhao Yu Xing, Wang Ou, Song An and 6 more