Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia.
American journal of medical genetics. Part A | 2023-02-01 | PMID 36367250
Seo Yuri, Lim Hyun Taek, Lee Byung Joo and 1 more
Publication catalog
Biomedical publications with connected research
Browse 1,060,000 source-attributed publications. Article pages show available bibliographic context, indexed concepts and SPECTER2 related publications where supported by the source and graph. Missing metadata is not invented, and source retraction notices remain visible.
Semantic proximity supports literature exploration. It does not establish scientific or clinical evidence.
Publications
Page 9042 of 10600
Expanding the spectrum of clinical severity of AICA-ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC gene.
American journal of medical genetics. Part A | 2023-02-01 | PMID 36367252
Galli Jessica, Valente Enza Maria, Dewulf Joseph and 5 more
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
American journal of medical genetics. Part A | 2022-12-01 | PMID 36367278
Fennell Andrew Paul, Baxter Anne Elizabeth, Berkovic Samuel Frank and 16 more
MGTdb: a web service and database for studying the global and local genomic epidemiology of bacterial pathogens.
Database : the journal of biological databases and curation | 2022-11-11 | PMID 36367311
Kaur Sandeep, Payne Michael, Luo Lijuan and 4 more
Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome.
Molecular genetics & genomic medicine | 2023-01-01 | PMID 36367347
Li Shan, Yu Shunan, Zhang Yanzhuo and 3 more
Activation of Nrf2 in fibroblasts promotes a skin aging phenotype via an Nrf2-miRNA-collagen axis.
Matrix biology : journal of the International Society for Matrix Biology | 2022-11-01 | PMID 36367485
Hiebert Paul, Martyts Anastasiya, Schwestermann Jonas and 5 more
Mutability-Landscape-Guided Engineering of l-Threonine Aldolase Revealing the Prelog Rule in Mediating Diastereoselectivity of C-C Bond Formation.
Angewandte Chemie (International ed. in English) | 2023-01-09 | PMID 36367520
Zheng Wenlong, Pu Zhongji, Xiao Lanxin and 4 more
Identification of mutational signature for lung adenocarcinoma prognosis and immunotherapy prediction.
Journal of molecular medicine (Berlin, Germany) | 2022-12-01 | PMID 36367565
Zhang Sainan, Li Mengyue, Tan Yilong and 10 more
Proficiency testing of PIK3CA mutations in HR+/HER2-breast cancer on liquid biopsy and tissue.
Virchows Archiv : an international journal of pathology | 2023-04-01 | PMID 36367572
Vollbrecht Claudia, Hoffmann Inga, Lehmann Annika and 16 more
UbiA prenyltransferase domain-containing protein 1 (UBIAD1) variant c.695 A > G identified in a multigenerational Japanese family with Schnyder corneal dystrophy.
Japanese journal of ophthalmology | 2023-01-01 | PMID 36367598
Tsuneya Miki, Chen Lily Wei, Ono Takashi and 6 more
A spectrum of BRCA1 and BRCA2 germline deleterious variants in ovarian cancer in Russia.
Breast cancer research and treatment | 2023-01-01 | PMID 36367610
Kechin Andrey, Boyarskikh Ulyana, Barinov Alexey and 9 more
MiR-17-3p Facilitates Aggressive Cell Phenotypes in Colon Cancer by Targeting PLCD1 Through Affecting KIF14.
Applied biochemistry and biotechnology | 2023-03-01 | PMID 36367621
Ji Jinxing, Fu Jun
ddRADseq-mediated detection of genetic variants in sugarcane.
Plant molecular biology | 2023-01-01 | PMID 36367622
Molina Catalina, Aguirre Natalia Cristina, Vera Pablo Alfredo and 5 more
Genetic Diagnosis of Inborn Errors of Immunity in an Emerging Country: a Retrospective Study of 216 Moroccan Patients.
Journal of clinical immunology | 2023-02-01 | PMID 36367635
Moundir Abderrahmane, Ouair Hind, Benhsaien Ibtihal and 19 more
Genome-wide association study of host resistance to the ectoparasite Ichthyophthirius multifiliis in the Amazon fish Colossoma macropomum.
Molecular biology reports | 2023-01-01 | PMID 36367660
Lira Lieschen V G, Mastrochirico-Filho Vito A, Mendes Natalia J and 3 more
GBP5 exacerbates rosacea-like skin inflammation by skewing macrophage polarization towards M1 phenotype through the NF-κB signalling pathway.
Journal of the European Academy of Dermatology and Venereology : JEADV | 2023-04-01 | PMID 36367676
Zhou Lei, Zhao Han, Zhao He and 6 more
A machine-learning approach for nonalcoholic steatohepatitis susceptibility estimation.
Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology | 2022-10-01 | PMID 36367682
Ghadiri Fatemeh, Husseini Abbas Ali, Öztaş Oğuzhan
Deep phenotyping of two preclinical mouse models and a cohort of RBM20 mutation carriers reveals no sex-dependent disease severity in RBM20 cardiomyopathy.
American journal of physiology. Heart and circulatory physiology | 2022-12-01 | PMID 36367695
Lennermann David C, Pepin Mark E, Grosch Markus and 16 more
Remote ischemic conditioning in Ossabaw minipigs induces the release of humoral cardioprotective triggers, but the myocardium does not respond with reduced infarct size.
American journal of physiology. Heart and circulatory physiology | 2022-12-01 | PMID 36367697
Lieder Helmut Raphael, Skyschally Andreas, Sturek Michael and 2 more
Mitochondrial DNA D-loop hyper-variable region 1 variability in Kurdish horse breed.
Veterinary medicine and science | 2023-03-01 | PMID 36367719
Nikbakhsh Milad, Varkoohi Sheida, Seyedabadi Hamid Reza
Molecular Function and Contribution of TBX4 in Development and Disease.
American journal of respiratory and critical care medicine | 2023-04-01 | PMID 36367783
Karolak Justyna A, Welch Carrie L, Mosimann Christian and 18 more
Evaluating the role of non-alcoholic fatty liver disease in cardiovascular diseases and type 2 diabetes: a Mendelian randomization study in Europeans and East Asians.
International journal of epidemiology | 2023-06-06 | PMID 36367831
Au Yeung Shiu Lun, Borges Maria Carolina, Wong Tommy Hon Ting and 2 more
Bovine tuberculosis in African buffalo (Syncerus caffer): Progression of pathology during infection.
PLoS neglected tropical diseases | 2022-11-01 | PMID 36367872
Lakin Hilary Ann, Tavalire Hannah, Sakamoto Kaori and 7 more
Colibactin possessing E. coli isolates in association with colorectal cancer and their genetic diversity among Pakistani population.
PloS one | 2022-01-01 | PMID 36367873
Tariq Habiba, Noreen Zobia, Ahmad Aftab and 9 more
Probabilistic mathematical modelling to predict the red cell phenotyped donor panel size.
PloS one | 2022-01-01 | PMID 36367895
Best Denisse, Burrage Kevin, Burrage Pamela and 5 more
Genealogical analysis of European bison population revealed a growing up population despite very low genetic diversity.
PloS one | 2022-01-01 | PMID 36367897
Machová Karolína, Štruncová Pavla, Calta Jan and 2 more
Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses.
Autophagy | 2023-06-01 | PMID 36368077
Wang Yalan, Wang Hongyan, Wang Chenji
Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family.
Cancer genetics | 2022-11-01 | PMID 36368126
Agaoglu Nihat Bugra, Ng Ozden Hatirnaz, Unal Busra and 6 more
Genetics of congenital arrhythmia syndromes: the challenge of variant interpretation.
Current opinion in genetics & development | 2022-12-01 | PMID 36368182
Glazer Andrew M
Developmental validation of a 381 Y-chromosome SNP panel for haplogroup analysis in the Chinese populations.
Forensic science international. Genetics | 2023-01-01 | PMID 36368220
Tao Ruiyang, Li Min, Chai Siyu and 8 more
Identification of PMD subgroups using a myelination score for PMD.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2022-11-01 | PMID 36368233
Harting Inga, Garbade Sven F, Rosendaal Stefan D and 4 more
Familial risk of psychosis in obsessive-compulsive disorder: Impact on clinical characteristics, comorbidity and treatment response.
Journal of psychiatric research | 2022-12-01 | PMID 36368245
Balachander Srinivas, Thatikonda Navya Spurthi, Kannampuzha Anand Jose and 14 more
Gene-diet interaction in response to defatted flaxseed flour supplementation on obesity-related traits in Chinese overweight and obese adults: A randomized controlled trial.
Nutrition (Burbank, Los Angeles County, Calif.) | 2023-01-01 | PMID 36368262
Kuang Xiaotong, Li Kelei, Shi Yan and 3 more
Genomic architecture of autism from comprehensive whole-genome sequence annotation.
Cell | 2022-11-10 | PMID 36368308
Trost Brett, Thiruvahindrapuram Bhooma, Chan Ada J S and 101 more
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
American journal of human genetics | 2022-12-01 | PMID 36368327
Hijazi Hadia, Reis Linda M, Pehlivan Davut and 35 more
Genes: TCEAL1, TCEAL3, TCEAL4, BEX3, MORF4L2, PLP1, RAB40A
SpikeSeq: A rapid, cost efficient and simple method to identify SARS-CoV-2 variants of concern by Sanger sequencing part of the spike protein gene.
Journal of virological methods | 2023-02-01 | PMID 36368344
Jørgensen Tue Sparholt, Pedersen Martin Schou, Blin Kai and 6 more
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability.
Clinica chimica acta; international journal of clinical chemistry | 2023-01-01 | PMID 36368352
Zhang Hongyun, Chen Xin, Tan Hu and 7 more
Genetic mapping of maize metabolites using high-throughput mass profiling.
Plant science : an international journal of experimental plant biology | 2023-01-01 | PMID 36368482
González-Rodríguez Tzitziki, Pérez-Limón Sergio, Peniche-Pavía Héctor and 3 more
The translational genetics of ADHD and related phenotypes in model organisms.
Neuroscience and biobehavioral reviews | 2023-01-01 | PMID 36368527
Cabana-Domínguez Judit, Antón-Galindo Ester, Fernàndez-Castillo Noèlia and 9 more
Overlapping genetic susceptibility of seven autoimmune diseases:SPU tests based on genome-wide association summary statistics.
Gene | 2023-01-30 | PMID 36368572
Zhao Chenyu, Jia Xiaocan, Wang Yuping and 4 more
Association of the CKM rs8111989 Polymorphism with Injury Epidemiology in Football Players.
International journal of sports medicine | 2023-02-01 | PMID 36368655
Varillas-Delgado David, Morencos Esther, Gutierrez-Hellín Jorge and 4 more
Rare MYC-N11S germline mutation indicative of inherited breast cancer in a multigeneration family.
BMJ case reports | 2022-11-11 | PMID 36368728
Budurlean Laura, Baker Maria, Broach James
Genome-wide SNPs in the spiny lobster Panulirus homarus reveal a hybrid origin for its subspecies.
BMC genomics | 2022-11-12 | PMID 36368918
Farhadi Ahmad, Jeffs Andrew G, Lavery Shane D
The impact of ABCB1 and CES1 polymorphisms on the safety of dabigatran in patients with non-valvular atrial fibrillation.
BMC cardiovascular disorders | 2022-11-11 | PMID 36368930
Zhu Zhu, Qian Chenyue, Su Cunjing and 5 more
Genome-wide association study uncovers major genetic loci associated with flowering time in response to active accumulated temperature in wild soybean population.
BMC genomics | 2022-11-11 | PMID 36368932
Yang Guang, Li Wei, Fan Chao and 10 more
Surgical results of the Lung Cancer Mutation Consortium 3 trial: A phase II multicenter single-arm study to investigate the efficacy and safety of atezolizumab as neoadjuvant therapy in patients with stages IB-select IIIB resectable non-small cell lung cancer.
The Journal of thoracic and cardiovascular surgery | 2023-03-01 | PMID 36369159
Rusch Valerie W, Nicholas Alan, Patterson G Alexander and 26 more
Comparative evaluation of different versions of exposure-free mosquito electrocuting traps and barrier screen trap for monitoring outdoor densities and biting time phenotypes by malaria and filariasis vectors in Tanzania.
Parasites & vectors | 2022-11-11 | PMID 36369172
Githu Victoria, Baravuga Maneno E, Mbarawa Asiya and 7 more
Repeated out-of-Africa expansions of Helicobacter pylori driven by replacement of deleterious mutations.
Nature communications | 2022-11-11 | PMID 36369175
Thorpe Harry A, Tourrette Elise, Yahara Koji and 21 more
Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits.
Nature communications | 2022-11-11 | PMID 36369178
Liu Lili, Khan Atlas, Sanchez-Rodriguez Elena and 49 more
WES data from 286 diffuse gliomas under the 2021 WHO Classification of Tumors of the Central Nervous System.
Scientific data | 2022-11-11 | PMID 36369198
Zhao Zheng, Zhang Ke-Nan, Sun Zhiyan and 12 more
Developmental disruption and restoration of brain synaptome architecture in the murine Pax6 neurodevelopmental disease model.
Nature communications | 2022-11-11 | PMID 36369219
Tomas-Roca Laura, Qiu Zhen, Fransén Erik and 5 more
Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy.
Nature communications | 2022-11-11 | PMID 36369230
Gómez-Oca Raquel, Edelweiss Evelina, Djeddi Sarah and 10 more
A rare PRSS1 p.S127C mutation is associated with chronic pancreatitis and causes misfolding-induced ER-stress.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] | 2022-12-01 | PMID 36369231
Thiel Franziska, Reiser Markus, Weiss Frank Ulrich
Deep phenotyping and lifetime trajectories reveal limited effects of longevity regulators on the aging process in C57BL/6J mice.
Nature communications | 2022-11-11 | PMID 36369285
Xie Kan, Fuchs Helmut, Scifo Enzo and 46 more
Genetic analysis of a Fanconi anemia case revealed the presence of FANCF mutation (exon 1;469>C-T) with implications to develop acute myeloid leukemia.
Molecular biology reports | 2023-01-01 | PMID 36369330
Behera Chinmay Kumar, Gyandeep Gummalla, Mishra Reshmi and 5 more
Association between TCF7L2 polymorphism and type 2 diabetes mellitus susceptibility: a case-control study among the Bangladeshi population.
Molecular biology reports | 2023-01-01 | PMID 36369331
Salauddin Asma, Chakma Kallyan, Hasan Md Mahbub and 4 more
Mixtures of genotypes increase disease resistance in a coral nursery.
Scientific reports | 2022-11-11 | PMID 36369337
Brown Anya L, Anastasiou Dagny-Elise, Schul Monica and 5 more
Paternal genetic diversity, differentiation and phylogeny of three white yak breeds/populations in China.
Scientific reports | 2022-11-11 | PMID 36369339
Luo Jing, Wei Xudong, Liu Wenxian and 5 more
Identification and multilocus genotyping of Toxoplasma gondii isolates from congenital infection in north of Iran.
Parasitology research | 2023-01-01 | PMID 36369362
Hosseini Seyed Abdollah, Sharif Mehdi, Sarvi Shahabeddin and 10 more
Somatic ARID1A mutation stratifies patients with gastric cancer to PD-1 blockade and adjuvant chemotherapy.
Cancer immunology, immunotherapy : CII | 2023-05-01 | PMID 36369379
Gu Yun, Zhang Puran, Wang Jieti and 7 more
Mouse models of Kras activation in gastric cancer.
Experimental & molecular medicine | 2022-11-01 | PMID 36369466
Won Yoonkyung, Choi Eunyoung
Association between PTPN1 polymorphisms and obesity-related phenotypes in European adolescents: influence of physical activity.
Pediatric research | 2023-06-01 | PMID 36369476
Salazar-Tortosa Diego F, Labayen Idoia, González-Gross Marcela and 7 more
Female sexual function in different phenotypes of polycystic ovarian syndrome: a comparative cross-sectional study.
Scientific reports | 2022-11-11 | PMID 36369524
Yarjanli Mahsa, Jahanian Sadatmahalleh Shahideh, Mirzaei Negin and 1 more
Predominant Clonal Reproduction with Infrequent Genetic Recombination of Phaeoacremonium minimum in Western Cape Vineyards.
Microbial ecology | 2023-08-01 | PMID 36369598
Havenga Minette, Halleen Francois, Baloyi Annabella and 3 more
PBRM1 and BAP1: novel genetic mutations in malignant transformation of craniopharyngioma-a case report.
Brain tumor pathology | 2023-01-01 | PMID 36369599
Tamura Mitsuru, Yokogami Kiyotaka, Watanabe Takashi and 6 more
A large outbreak of the Kappa mutation of COVID-19 in Cork, Ireland, April-May 2021.
Irish journal of medical science | 2023-08-01 | PMID 36369600
Barrett P M, Bruton O, Hanrahan M and 10 more
Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.
Journal of applied genetics | 2023-02-01 | PMID 36369640
Skorczyk-Werner Anna, Sowińska-Seidler Anna, Wawrocka Anna and 2 more
Transmission network and phylogenetic analysis reveal older male-centered transmission of CRF01_AE and CRF07_BC in Guangxi, China.
Emerging microbes & infections | 2023-12-01 | PMID 36369697
Zhang Fei, Yang Yao, Liang Na and 13 more
Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome.
American journal of medical genetics. Part A | 2023-02-01 | PMID 36369709
Franco Elena, Scanga Hannah L, Nischal Ken K
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
American journal of medical genetics. Part A | 2023-02-01 | PMID 36369750
Jacquin Clémence, Landais Emilie, Poirsier Céline and 45 more
Screening by high-throughput sequencing for pathogenic variants in cystic fibrosis: Benefit of introducing personalized therapies.
Journal of cellular and molecular medicine | 2022-12-01 | PMID 36369753
de Melo Ana Cristina Vieira, de Souza Karla Simone Costa, da Silva Heglayne Pereira Vital and 4 more
Real-world outcomes of anti-EGFR therapy in advanced non-small cell lung cancer EGFR mutated in Peru.
Thoracic cancer | 2023-01-01 | PMID 36369763
Galvez-Nino Marco, Ruiz Rossana, Roque Katia and 5 more
An unusual presentation of type III late onset multiple-acyl-CoA dehydrogenase deficiency leading to a review of its classification system.
The journal of the Royal College of Physicians of Edinburgh | 2022-09-01 | PMID 36369806
Eskell Matthew, Khan Hashim
Detection of small sequence variations within the goat GHR gene and its effects on growth traits.
Animal biotechnology | 2023-12-01 | PMID 36369830
Yan Hailong, Yang Wenjing, Yan Yuqing and 4 more
Early-onset Neovascular Inflammatory Vitreoretinopathy Due to Two de Novo CAPN5 Mutations in Chinese Patients: A Case Series.
Ocular immunology and inflammation | 2023-11-01 | PMID 36369866
Xia Feng-Jie, Lyu Jiao, Zhang Xiang and 2 more
Changes in survival of patients with non-small cell lung cancer in Japan: An interrupted time series study.
Cancer science | 2023-03-01 | PMID 36369880
Taniyama Yukari, Oze Isao, Koyanagi Yuriko N and 6 more
STOX1 promotor region -922 T > C polymorphism is associated with Early-Onset preeclampsia.
Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology | 2022-11-01 | PMID 36369889
Akin Seyda, Pinarbasi Ergun, Bildirici Aslihan Esra and 1 more
The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1).
Molecular genetics & genomic medicine | 2023-01-01 | PMID 36369907
Chi Huan, Gan Chun, Jiang Yaru and 8 more
Repeatability of ventricular arrhythmia characteristics on the exercise-stress test in RYR2-mediated catecholaminergic polymorphic ventricular tachycardia.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology | 2023-02-16 | PMID 36369981
Peltenburg Puck J, Pultoo Sanjeev N J, Tobert Kathryn E and 8 more
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
Brain : a journal of neurology | 2023-05-02 | PMID 36370000
Senkevich Konstantin, Zorca Cornelia E, Dworkind Aliza and 26 more
Landscape and clinical impact of NOTCH mutations in newly diagnosed acute myeloid leukemia.
Cancer | 2023-01-15 | PMID 36370049
Han Haohao, Yao Yifang, Wang Hong and 7 more
Racial and ethnic variation in BRCA1 and BRCA2 genetic test results among individuals referred for genetic counseling at a large urban comprehensive cancer center.
Cancer causes & control : CCC | 2023-02-01 | PMID 36370215
Abdallah Nadine, Purrington Kristen S, Tatineni Sushma and 3 more
R158Q and G212S, novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome.
Frontiers of medicine | 2022-12-01 | PMID 36370249
Li Zongyue, Wu Huixiao, Wei Shuoshuo and 9 more
Duplication Versus Deletion Through the Lens of 15q13.3: Clinical and Research Implications of Studying Copy Number Variants Associated with Neuropsychiatric Disorders in Induced Pluripotent Stem Cell-Derived Neurons.
Stem cell reviews and reports | 2023-04-01 | PMID 36370261
Antony Irene, Narasimhan Mishka, Shen Renata and 4 more
Definitions, phenotypes, and subphenotypes in acute kidney injury-Moving towards precision medicine.
Nephrology (Carlton, Vic.) | 2023-02-01 | PMID 36370326
Rodrigues Camila Eleuterio, Endre Zoltán H
PVT1/miR-145-5p/HK2 modulates vascular smooth muscle cells phenotype switch via glycolysis: The new perspective on the spiral artery remodeling.
Placenta | 2022-12-01 | PMID 36370492
Wu Mengying, Liu Weifang, Huang Haixia and 6 more
Mutations in SARS-CoV-2: Insights on structure, variants, vaccines, and biomedical interventions.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie | 2023-01-01 | PMID 36370519
Abulsoud Ahmed I, El-Husseiny Hussein M, El-Husseiny Ahmed A and 14 more
Biofilm formation, sodium hypochlorite susceptibility and genetic diversity of Vibrio parahaemolyticus.
International journal of food microbiology | 2023-01-16 | PMID 36370527
Wang Dan, Fletcher Graham C, On Stephen L W and 3 more
Repulsion and attraction in searching: A hybrid algorithm based on gravitational kernel and vital few for cancer driver gene prediction.
Computers in biology and medicine | 2022-12-01 | PMID 36370584
He Zhihui, Lin Yingqing, Wei Runguo and 2 more
Research Note: Growth promoting potential in Mstn mutant quail dependent and independent of increased egg size.
Poultry science | 2023-01-01 | PMID 36370661
Kim Dong-Hwan, Lee Joonbum, Choi Young Min and 1 more
Developmental validation of STRmix™ NGS, a probabilistic genotyping tool for the interpretation of autosomal STRs from forensic profiles generated using NGS.
Forensic science international. Genetics | 2023-01-01 | PMID 36370677
Cheng Kevin, Bright Jo-Anne, Kelly Hannah and 5 more
Evaluating human mutation databases for "treatability" using patient-customized therapy.
Med (New York, N.Y.) | 2022-11-11 | PMID 36370694
Mittal Swapnil, Tang Isaac, Gleeson Joseph G
Estimating the genome-wide mutation rate from thousands of unrelated individuals.
American journal of human genetics | 2022-12-01 | PMID 36370709
Tian Xiaowen, Cai Ruoyi, Browning Sharon R
Matrix metalloproteinases and their gene polymorphism in young ST-segment elevation myocardial infarction.
Indian heart journal | 2000-01-01 | PMID 36370803
Basia Deepak, Gupta Mohit Dayal, Kunal Shekhar and 8 more
Progressive Disease With Low Survival in Adult Patients With Pulmonary Fibrosis Carrying Surfactant-Related Gene Mutations: An Observational Study.
Chest | 2023-04-01 | PMID 36370864
Klay Dymph, Grutters Jan C, van der Vis Joanne J and 4 more
Multivariate analysis of chemical and genetic diversity of wild Humulus lupulus L. (hop) collected in situ in northern France.
Phytochemistry | 2023-01-01 | PMID 36370882
Paguet Anne-Sophie, Siah Ali, Lefèvre Gabriel and 16 more
Investigating modifiable pathways in psoriasis: A Mendelian randomization study.
Journal of the American Academy of Dermatology | 2023-03-01 | PMID 36370904
Chalitsios Christos V, Georgiou Andrea, Bouras Emmanouil and 4 more
A new real-time quantitative polymerase chain reaction method using locked nucleic acids to detect Neisseria gonorrhoeae infection and point mutation on gyrA associated with quinolone susceptibility.
Journal of microbiological methods | 2022-12-01 | PMID 36370922
Sakai Jun, Maesaki Shigefumi
Clonal evolution and expansion associated with therapy resistance and relapse of colorectal cancer.
Mutation research. Reviews in mutation research | 2000-01-01 | PMID 36371022
S Anupriya, Chakraborty Averi, Patnaik Srinivas
BICOSS: Bayesian iterative conditional stochastic search for GWAS.
BMC bioinformatics | 2022-11-12 | PMID 36371147
Williams Jacob, Ferreira Marco A R, Ji Tieming