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 9087 of 10600

Finnish children carrying the high-risk HLA genotype have a 45-fold increased risk of type 1 diabetes compared to peers with neutral or protective genotypes.
Diabetes research and clinical practice | 2023-03-01 | PMID 36640866
Taka Antti-Mathias, But Anna, Lempainen Johanna and 4 more
Identification of pyrimidinyl piperazines as non-iminosugar glucocerebrosidase (GCase) pharmacological chaperones.
Bioorganic & medicinal chemistry letters | 2023-02-01 | PMID 36640928
Hoshikawa Tamaki, Watanabe Toru, Kotake Makoto and 9 more
CD73 Inhibitor Oleclumab Plus Osimertinib in Previously Treated Patients With Advanced T790M-Negative EGFR-Mutated NSCLC: A Brief Report.
Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer | 2023-05-01 | PMID 36641093
Kim Dong-Wan, Kim Sang-We, Camidge D Ross and 13 more
Identification of two novel FUT1 mutations in people with Bombay phenotype from Iran.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis | 2023-06-01 | PMID 36641332
Shahriyari Faeze, Oodi Arezoo, Kenari Fatemeh Nasiri and 1 more
Identification and functional characterization of novel variants of MAPT and GRN in Chinese patients with frontotemporal dementia.
Neurobiology of aging | 2023-03-01 | PMID 36641371
Cheng Hong-Rong, Lin Rong-Rong, Li Hong-Lei and 5 more
MARS1 mutations linked to familial trigeminal neuralgia via the integrated stress response.
The journal of headache and pain | 2023-01-14 | PMID 36641423
Wang Anni, Song Zimu, Zhang Xu and 9 more
Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change.
Journal of neurodevelopmental disorders | 2023-01-14 | PMID 36641436
Busch Robyn M, Frazier Ii Thomas W, Sonneborn Claire and 7 more
Mutational signature of extracranial meningioma metastases and their respective primary tumors.
Acta neuropathologica communications | 2023-01-14 | PMID 36641486
Biczok A, Thorsteinsdottir J, Karschnia P and 5 more
An update on CRISPR-Cas12 as a versatile tool in genome editing.
Molecular biology reports | 2023-03-01 | PMID 36641494
Senthilnathan Raghul, Ilangovan Ilamathi, Kunale Milind and 4 more
Successful azacitidine therapy for myelodysplastic syndrome associated with VEXAS syndrome.
International journal of hematology | 2023-06-01 | PMID 36641501
Kataoka Asami, Mizumoto Chisaki, Kanda Junya and 9 more
QTL mapping for seed density per silique in Brassica napus.
Scientific reports | 2023-01-14 | PMID 36641540
Zhu Jifeng, Lei Lei, Wang Weirong and 2 more
Age- and Sex-Different Associations between Cognitive Performance and Inflammatory Biomarkers in Community Dwelling Older Adults: towards Precision Preventive Strategies.
The journal of prevention of Alzheimer's disease | 2023-01-01 | PMID 36641614
Chen B-A, Lee W-J, Chung C-P and 2 more
Genes: CRP
Embryo Selection for a Carrier of an Early-Onset Alzheimer's Disease-Associated Mutation in the PSEN1 Gene.
The journal of prevention of Alzheimer's disease | 2023-01-01 | PMID 36641620
Valdés-Martínez O H, García-Luna S M, Oceguera-Palao L C and 4 more
Transcriptional reprogramming restores UBE3A brain-wide and rescues behavioral phenotypes in an Angelman syndrome mouse model.
Molecular therapy : the journal of the American Society of Gene Therapy | 2023-04-05 | PMID 36641623
O'Geen Henriette, Beitnere Ulrika, Garcia Miranda S and 13 more
APOE Genotype Modifies the Association of Fusiform Gyrus Cerebral Metabolic Rate of Oxygen Consumption and Object Naming Performance.
Journal of Alzheimer's disease : JAD | 2023-01-01 | PMID 36641668
Hays Weeks Chelsea C, Zlatar Zvinka Z, Meloy M J and 3 more
Reversibility and developmental neuropathology of linear nevus sebaceous syndrome caused by dysregulation of the RAS pathway.
Cell reports | 2023-01-31 | PMID 36641749
Kim Ye Eun, Kim Yong-Seok, Lee Hee-Eun and 9 more
Advances in linking single-cell bacterial stress response to population-level survival.
Current opinion in biotechnology | 2023-02-01 | PMID 36641904
Alnahhas Razan N, Dunlop Mary J
Expression of receptor-type tumour endothelial marker 8 in carcinoma cells showing luminal progenitor-like phenotypes in canine mammary gland carcinomas.
Journal of comparative pathology | 2023-01-01 | PMID 36641985
Araki Mami, Noguchi Syunya, Kubo Yoshiaki and 5 more
Generation of two human iPSC lines with Exon 3 mutations in BCL2-Associated Athanogene 3 (BAG3) from dilated cardiomyopathy patients.
Stem cell research | 2023-03-01 | PMID 36642055
Zushin Peter-James H, Zhou Yang, Li Audrey and 3 more
Complex genetic architecture underlying the plasticity of maize agronomic traits.
Plant communications | 2023-05-08 | PMID 36642074
Jin Minliang, Liu Haijun, Liu Xiangguo and 11 more
Identification of chromosome region and candidate genes for canary-yellow flesh (Cyf) locus in watermelon (Citrullus lanatus).
Plant science : an international journal of experimental plant biology | 2023-04-01 | PMID 36642105
Liu Shi, Liu Mengqiu, Cao Yue and 5 more
The oxidative nuclease activity of human cytochrome c with mutations in Ω-loop C/D.
Biochimica et biophysica acta. Proteins and proteomics | 2023-05-01 | PMID 36642204
Feng Yu, Dong Yao, Du Ke-Jie and 3 more
[Mutation of dentin sialophosphoprotein and hereditary malformations of dentin].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology | 2023-01-09 | PMID 36642448
Zhu Q L, Duan X H, Yu Q
Interstitial Lung Disease in Adulthood Associated with Surfactant Protein C Gene Mutation in a Patient with a History of Lipoid Pneumonia in Infancy.
Internal medicine (Tokyo, Japan) | 2023-09-01 | PMID 36642519
Furukawa Tsuguhiro, Akaike Kimitaka, Iyama Shinji and 5 more
For COVID-19, what are the priorities of normalized prevention and control strategies?
Bioscience trends | 2023-03-11 | PMID 36642529
Luo Mingyu, Gong Fuzhe, Sun Jimin and 1 more
Global prevalence of Rett syndrome: systematic review and meta-analysis.
Systematic reviews | 2023-01-16 | PMID 36642718
Petriti Uarda, Dudman Daniel C, Scosyrev Emil and 1 more
A first look at sea-lavenders genomics - can genome wide SNP information tip the scales of controversy in the Limonium vulgare species complex?
BMC plant biology | 2023-01-16 | PMID 36642719
Pina-Martins Francisco, Caperta Ana D, Conceição Sofia I R and 3 more
Identification of seven hypoxia-related genes signature and risk score models for predicting prognosis for ovarian cancer.
Functional & integrative genomics | 2023-01-16 | PMID 36642729
Huang Yan, Zhou Yuqi, Zhang Meiqin
Stagnation in quality of next-generation sequencing assays for the diagnosis of hereditary hematopoietic malignancies.
Journal of genetic counseling | 2023-06-01 | PMID 36642751
Roloff Gregory W, Shaw Reid, O'Connor Timothy E and 2 more
PET imaging of animal models with depressive-like phenotypes.
European journal of nuclear medicine and molecular imaging | 2023-05-01 | PMID 36642759
Vazquez-Matias Daniel Aaron, de Vries Erik F J, Dierckx Rudi A J O and 1 more
Allelic to genome wide perspectives of swine genetic variation to litter size and its component traits.
Molecular biology reports | 2023-04-01 | PMID 36642776
Vaishnav Sakshi, Chauhan Anuj, Ajay Argana and 5 more
Factors that influence the management recommendations breast surgeons provide to women with pathogenic variants in moderate penetrance breast cancer susceptibility genes.
Journal of genetic counseling | 2023-06-01 | PMID 36642783
Vanderwal April, Lewis Jaime, Basil Janet and 2 more
Midline brain hamartomatous lesions in fibrodysplasia ossificans progressiva with ACVR1 mutations.
Neuropathology : official journal of the Japanese Society of Neuropathology | 2023-08-01 | PMID 36642816
Kresak Jesse Lee, Walsh Meggen, Tuzzolo Anthony and 2 more
Classical DC2 subsets and monocyte-derived DC: Delineating the developmental and functional relationship.
European journal of immunology | 2023-03-01 | PMID 36642930
Backer Ronald A, Probst Hans Christian, Clausen Björn E
Fast integration and accumulation of beneficial breeding alleles through an AB-NAMIC strategy in wheat.
Plant communications | 2023-05-08 | PMID 36642955
Jiao Chengzhi, Hao Chenyang, Li Tian and 14 more
Eight single nucleotide polymorphisms and their association with food habit domestication traits and growth traits in largemouth bass fry (Micropterus salmoides) based on PCR-RFLP method.
PeerJ | 2023-01-01 | PMID 36643624
Cui Jiao, Jiang Zhou, Wang Zerui and 8 more
No detectable changes in reproductive behaviour of Caenorhabditis elegans males after 97 generations under obligatory outcrossing.
PeerJ | 2023-01-01 | PMID 36643640
Antoł Weronika, Byszko Jagoda, Dyba Alicja and 3 more
Yield-based drought tolerance index evaluates the drought tolerance of cotton germplasm lines in the interaction of genotype-by-environment.
PeerJ | 2023-01-01 | PMID 36643643
Sun Fenglei, Chen Quanjia, Chen Qin and 2 more
MiR-100 rs1834306 A>G Increases Biliary Atresia Risk in Southern Han Chinese Children.
BioMed research international | 2023-01-01 | PMID 36644163
Chang Jiaming, Liang Jiankun, Chai Chengwei and 6 more
Protein phosphatase 2A activators reverse age-related behavioral changes by targeting neural cell senescence.
Aging cell | 2023-03-01 | PMID 36644807
Xing Jun, Chen Kehua, Gao Shuaiyun and 10 more
Effect of periodontal phenotype characteristics on post-extraction dimensional changes of the alveolar ridge: A prospective case series.
Journal of clinical periodontology | 2023-05-01 | PMID 36644815
Couso-Queiruga Emilio, Graham Zachary A, Peter Tabitha and 3 more
Ripretinib for the treatment of adult patients with advanced gastrointestinal stromal tumors.
Expert review of gastroenterology & hepatology | 2023-02-01 | PMID 36644853
Sargsyan Amalya, Kucharczyk Monika A, Jones Robin L and 1 more
Acute heart failure after non-cardiac surgery: incidence, phenotypes, determinants and outcomes.
European journal of heart failure | 2023-03-01 | PMID 36644890
Gualandro Danielle M, Puelacher Christian, Chew Michelle S and 24 more
xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments.
GigaScience | 2022-12-28 | PMID 36644891
Farek Jesse, Hughes Daniel, Salerno William and 11 more
Genes and single nucleotide polymorphisms in the pathway of saliva and dental caries: a systematic review and meta-analysis.
Biofouling | 2023-01-01 | PMID 36644905
Chisini Luiz Alexandre, Varella de Carvalho Rodrigo, Dos Santos Costa Francine and 3 more
Diagnosis of Familial Dysbetalipoproteinemia Based on the Lipid Abnormalities Driven by APOE2/E2 Genotype.
Clinical chemistry | 2023-02-01 | PMID 36644927
Bea Ana M, Cenarro Ana, Marco-Bened Victoria and 8 more
Peripheral and Portal Venous KRAS ctDNA Detection as Independent Prognostic Markers of Early Tumor Recurrence in Pancreatic Ductal Adenocarcinoma.
Clinical chemistry | 2023-03-01 | PMID 36644936
Nitschke Christine, Markmann Benedikt, Walter Philipp and 17 more
Genomic profiling and precision medicine in complex ameloblastoma.
Head & neck | 2023-04-01 | PMID 36645099
Gates James C, Clark Allison P, Cherkas Elliot and 6 more
Estimating copy number to determine BRCA2 deletion status and to expect prognosis in localized prostate cancer.
Cancer medicine | 2023-04-01 | PMID 36645189
Nukaya Takuhisa, Sumitomo Makoto, Sugihara Eiji and 8 more
Long-term risk of cancer among the first-degree relatives of epithelial ovarian cancer patients: A cohort study with 48 years of follow up.
Acta obstetricia et gynecologica Scandinavica | 2023-03-01 | PMID 36645194
Kotaniemi-Talonen Laura, Pukkala Eero, Aittomäki Kristiina and 1 more
Genes: BRCA1, BRCA2
Recognition of the HLA-C*14:24:02 allele in a Singaporean individual.
HLA | 2023-06-01 | PMID 36645221
Cho Loise, Lin Py-Yu, Yang Kuo-Liang
A viewpoint on the genetic determinants of generalised pustular psoriasis.
Experimental dermatology | 2023-08-01 | PMID 36645252
Capon Francesca
Changes in genomic inbreeding and diversity over half a century in Swedish Red and Swedish Holstein dairy cattle.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie | 2023-05-01 | PMID 36645266
Eriksson Susanne, Strandberg Erling, Johansson Anna M
Performance of the Vitek 2 Advanced Expert System (AES) as a Rapid Tool for Reporting Antimicrobial Susceptibility Testing (AST) in Enterobacterales from North and Latin America.
Microbiology spectrum | 2023-02-14 | PMID 36645286
Carvalhaes Cecilia G, Shortridge Dee, Woosley Leah N and 2 more
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.
Clinical genetics | 2023-04-01 | PMID 36645289
Imagawa Eri, Seyama Rie, Aoi Hiromi and 7 more
Impact of Phylogenetic Tree Completeness and Mis-specification of Sampling Fractions on Trait Dependent Diversification Models.
Systematic biology | 2023-05-19 | PMID 36645380
Mynard Poppy, Algar Adam C, Lancaster Lesley T and 11 more
Robustness increases heritability: implications for familial disease.
Evolution; international journal of organic evolution | 2023-03-01 | PMID 36645393
Frank Steven A
Mapping and characterization of a novel adult-plant leaf rust resistance gene LrYang16G216 via bulked segregant analysis and conventional linkage method.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2023-01-01 | PMID 36645449
Zhao Renhui, Liu Bingliang, Wan Wentao and 4 more
Severe parental phenotype associates with hypertension in children with ADPKD.
Pediatric nephrology (Berlin, Germany) | 2023-08-01 | PMID 36645493
Demoulin Nathalie, Van Regemorter Elliott, Dahan Karin and 5 more
Pedigree reconstruction and population structure using SNP markers in Gir cattle.
Journal of applied genetics | 2023-05-01 | PMID 36645582
Garcia Arielly Oliveira, Otto Pamela Itajara, Glatzl Junior Luiz Afonso and 8 more
Genetic Risk, Neighborhood Characteristics, and Behavioral Difficulties Among African American Adolescents Living in Very Low-Income Neighborhoods.
Research on child and adolescent psychopathology | 2023-05-01 | PMID 36645613
Sterrett-Hong Emma M, Aliev Fazil, Dick Danielle M and 2 more
A novel variant in the GJB6 gene in a large Chinese family with a unique phenotype of Clouston syndrome.
Frontiers of medicine | 2023-04-01 | PMID 36645631
Huang Hequn, Chen Mengyun, Liu Xia and 5 more
PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes.
World journal of pediatrics : WJP | 2024-01-01 | PMID 36645641
Zhang Han, Gao Kai, Wang Shuang and 4 more
Glycolytic side pathways regulating macrophage inflammatory phenotypes and functions.
American journal of physiology. Cell physiology | 2023-02-01 | PMID 36645667
Dionísio Flávio, Tomas Lukas, Schulz Christian
Lack of association between rs1049353 polymorphism of the CNR1 gene and suicide attempt frequency in Polish population.
Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego | 2022-12-22 | PMID 36645680
Wierzbiński Piotr, Henzler Michał, Hubska Joanna
The influence of hypertension, diabetes, lipid disorders and the presence of the APOE4 allele on the cognitive functions of patients over 65 years of age.
Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego | 2022-12-22 | PMID 36645688
Zachara Radosław, Właszczuk Adam, Gorzkowska Agnieszka and 1 more
Effects of an IgE receptor polymorphism acting on immunity, susceptibility to infection, and reproduction in a wild rodent.
eLife | 2023-01-16 | PMID 36645701
Wanelik Klara M, Begon Mike, Bradley Janette E and 4 more
Whole-exome sequencing of rectal neuroendocrine tumors.
Endocrine-related cancer | 2023-09-01 | PMID 36645718
Li Yuanliang, Guo Yiying, Cheng Zixuan and 10 more
Associations of vitamin D receptor encoding gene variants with premenopausal breast cancer risk.
American journal of human biology : the official journal of the Human Biology Council | 2023-06-01 | PMID 36645723
Iqbal Mehir Un Nisa, Maqbool Syed Amir, Khan Taseer Ahmed
Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing.
Schizophrenia research | 2023-02-01 | PMID 36645932
Alkelai Anna, Greenbaum Lior, Shohat Shahar and 12 more
Polygenic risk scores and breast cancer risk prediction.
Breast (Edinburgh, Scotland) | 2023-02-01 | PMID 36646003
Roberts Eleanor, Howell Sacha, Evans D Gareth
Characterization of a prothrombotic phenotype using thrombin generation and thrombin activity in cirrhosis and portal hypertension.
Thrombosis research | 2023-02-01 | PMID 36646026
Königsbrügge Oliver, Scheiner Bernhard, Simbrunner Benedikt and 8 more
A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations.
Nephron | 2023-01-01 | PMID 36646056
Mollataheri Ali, Mojbafan Marzieh, Hosseini Rozita and 3 more
A Comprehensive Study of Disease-Causing Variants in PAH, QDPR, PTS, and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review.
Human heredity | 2023-01-01 | PMID 36646061
Ghanei Mahmoud, Sadat Fatemi Seyedeh Helia, Hamzehlouei Tayebeh
The Single Nucleotide Polymorphisms rs4143370 and rs34904192 in MIR155HG Were Associated with Esophageal Cancer Risk in the Chinese Han Population.
Digestion | 2023-01-01 | PMID 36646064
Jia Zhuoqi, Zhou Weiru, Liang Jing and 3 more
Different developmental insecticide exposure windows trigger distinct locomotor phenotypes in the early life stages of zebrafish.
Chemosphere | 2023-03-01 | PMID 36646183
von Wyl Melissa, Könemann Sarah, Vom Berg Colette
Novel Approach to Improve the Identification of the Bleeding Phenotype in Noonan Syndrome and Related RASopathies.
The Journal of pediatrics | 2023-06-01 | PMID 36646249
Bruno Leah, Lenberg Jerica, Le Dzung and 3 more
Potassium channelopathies associated with epilepsy-related syndromes and directions for therapeutic intervention.
Biochemical pharmacology | 2023-02-01 | PMID 36646291
Gribkoff Valentin K, Winquist Raymond J
The PIK3CA-E545K-SIRT4 signaling axis reduces radiosensitivity by promoting glutamine metabolism in cervical cancer.
Cancer letters | 2023-03-01 | PMID 36646410
Jiang Wei, Ouyang Xueyan, Ji Zhaodong and 7 more
The Impact of Estrogen Receptor Expression on Mutational Status in the Evolution of Non-Small Cell Lung Cancer.
Clinical lung cancer | 2023-03-01 | PMID 36646585
Tani Yoko, Kaneda Hiroyasu, Koh Yasuhiro and 9 more
Antibiotic susceptibility and genotypic characterization of Neisseria gonorrhoeae isolates in the Comunidad Valenciana (Spain): GONOvig project.
Enfermedades infecciosas y microbiologia clinica (English ed.) | 2024-02-01 | PMID 36646588
Fabregat Bolufer Aleix Borja, Bueno Ferrando Felipe, Navarro Ortega David and 1 more
[Acquired alpha-thalassemia in an 86-year-old patient with myelodysplastic syndrome].
La Revue de medecine interne | 2023-02-01 | PMID 36646614
Cortese D, Martinez C, Dindoyal A and 5 more
Quantifying the local adaptive landscape of a nascent bacterial community.
Nature communications | 2023-01-16 | PMID 36646697
Ascensao Joao A, Wetmore Kelly M, Good Benjamin H and 2 more
Micro and macroevolution of sea anemone venom phenotype.
Nature communications | 2023-01-16 | PMID 36646703
Smith Edward G, Surm Joachim M, Macrander Jason and 6 more
Imaging features of localized IDH wild-type histologically diffuse astrocytomas: a single-institution case series.
Scientific reports | 2023-01-16 | PMID 36646712
Kibe Yuji, Motomura Kazuya, Ohka Fumiharu and 5 more
Deep mutational scanning of essential bacterial proteins can guide antibiotic development.
Nature communications | 2023-01-16 | PMID 36646716
Dewachter Liselot, Brooks Aaron N, Noon Katherine and 7 more
Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis.
Scientific reports | 2023-01-16 | PMID 36646731
Isaranuwatchai Suramath, Chanakul Ankanee, Ittiwut Chupong and 5 more
Intravenous fentanyl self-administration in male and female C57BL/6J and DBA/2J mice.
Scientific reports | 2023-01-16 | PMID 36646781
Leonardo Michael, Brunty Sarah, Huffman Jessica and 2 more
Plastic plumage colouration in response to experimental humidity supports Gloger's rule.
Scientific reports | 2023-01-16 | PMID 36646811
López-Rull Isabel, Salaberría Concepción, Fargallo Juan Antonio
A natural allele of proteasome maturation factor improves rice resistance to multiple pathogens.
Nature plants | 2023-02-01 | PMID 36646829
Hu Xiao-Hong, Shen Shuai, Wu Jin-Long and 24 more
Uncovering natural allelic and structural variants of OsCENH3 gene by targeted resequencing and in silico mining in genus Oryza.
Scientific reports | 2023-01-16 | PMID 36646847
Kaur Karminderbir, Neelam Kumari, Singh Jasdeep and 2 more
Relationship between cerebrospinal fluid/serum albumin quotient and phenotype in amyotrophic lateral sclerosis: a retrospective study on 328 patients.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2023-05-01 | PMID 36646859
Verde Federico, Ferrari Ivan, Maranzano Alessio and 13 more
Predicting prime editing efficiency and product purity by deep learning.
Nature biotechnology | 2023-08-01 | PMID 36646933
Mathis Nicolas, Allam Ahmed, Kissling Lucas and 6 more
Intellectual disability and abnormal cortical neuron phenotypes in patients with Bloom syndrome.
Journal of human genetics | 2023-05-01 | PMID 36646944
Kaneko Hideo, Kawase Chizuru, Seki Junko and 3 more
Association between DIO2 Thr92Ala polymorphism and hypertension in patients with hypothyroidism: Korean Genome and Epidemiology Study.
The Korean journal of internal medicine | 2023-03-01 | PMID 36646987
Kang Young Mi, Koo Bon Seok, Yi Hyon-Seung and 5 more
The mutation rate of rpoB gene showed an upward trend with the increase of MIRU10, MIRU39 and QUB4156 repetitive number.
BMC genomics | 2023-01-16 | PMID 36646991
Su Fan, Cao Lei, Ren Xia and 7 more
Experimental analysis of bladder cancer-associated mutations in EP300 identifies EP300-R1627W as a driver mutation.
Molecular medicine (Cambridge, Mass.) | 2023-01-16 | PMID 36647005
Luo Mayao, Zhang Yifan, Xu Zhuofan and 3 more
De novo variations of ANK1 gene caused hereditary spherocytosis in two Chinese children by affecting pre-mRNA splicing.
BMC pediatrics | 2023-01-16 | PMID 36647015
Wang Yang, Huang Lan, Zhu Yao and 4 more
Whole-genome resequencing reveals genetic differences and the genetic basis of parapodium number in Russian and Chinese Apostichopus japonicus.
BMC genomics | 2023-01-16 | PMID 36647018
Guo Chao, Zhang Xianglei, Li Yuanxin and 9 more
Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.
BMC medical genomics | 2023-01-16 | PMID 36647026
Adam Felicia, Fluri Muriel, Scherz Amina and 1 more