Epidemiological characteristics of acute hepatitis A, 2013-2016: a cross-sectional study in Morocco.
Infectious diseases (London, England) | 2023-09-01 | PMID 37368360
Karami Adnane, El Fihry Raouia, Haddaji Asmaa and 9 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 9211 of 10600
[Consensus on laboratory diagnosis of congenital adrenal hyperplasia due to 21 hydroxylase deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-07-10 | PMID 37368376
Sun Yu, Wu Lingqian, Ye Lei and 3 more
[Clinical manifestations and genetic analysis of 4 patients with variants of FBN1 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-07-10 | PMID 37368377
Liu Xin, Yang Mei, Xie Hanbing and 5 more
[Genetic analysis of a Chinese family affected with α-dystroglycanopathy due to variant of B3GALNT2 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-07-10 | PMID 37368380
Zeng Li'na, Lin Li, Zhang Yan and 3 more
Genes: B3GALNT2
[Correlation of mitochondrial tRNA variants with coronary heart disease in a Chinese pedigree].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-07-10 | PMID 37368381
Ding Yu, Yu Jinfang, Gao Beibei and 1 more
[Results of combined newborn hearing and deafness gene screening in Yuncheng area of Shanxi Province].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-07-10 | PMID 37368382
He Hongqin, Su Li, Xu Jia and 4 more
[Analysis of COL1A1 and COL1A2 gene variants in two fetuses with osteogenesis imperfecta].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-07-10 | PMID 37368383
Zhang Yaning, Wu Xinyue, Liu Qiaoyun and 3 more
[Analysis of genetic variants and clinical manifestations of two children with Kabuki syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-07-10 | PMID 37368385
Shen Yu, Sun Shuni, Xie Min and 2 more
[Clinical features and genetic analysis of a child with EAST/SeSAME syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-07-10 | PMID 37368386
Zhang Guangyu, Wang Mingmei, Chen Gongxun and 3 more
[Clinical characteristics and genetic analysis of a child with Galactosemia due to compound heterozygous variants of GALT gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-07-10 | PMID 37368387
Xie Zhenhua, Liu Jing, Li Xian and 5 more
[Clinical feature and genetic analysis of a patient with Idiopathic hypogonadotropic hypogonadism due to a novel variant of CHD7 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-07-10 | PMID 37368388
Wang Xin, Deng Qian, Wang Juanjuan and 4 more
[Clinical features and genetic analysis of a patient with type 2 neurofibromatosis manifested as oculomotor nerve palsy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-07-10 | PMID 37368389
Ding Xinghuan, Liang Bo, Liang Tingyu and 3 more
[Clinical and molecular genetic analysis of a child with Schmid type metaphyseal chondrodysplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-07-10 | PMID 37368390
Dong Xiaoyun, Zheng Xuan, Lin Fatao and 3 more
[Clinical and genetic analysis of a child with Alazami syndrome due to compound heterozygous variants of LARP7 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-07-10 | PMID 37368391
Yuan Lin, Zhao Peng, Sheng Qianqian and 3 more
[Analysis of a child with X-linked intellectual disability due to a maternal de novo splicing variant of the PAK3 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-07-10 | PMID 37368392
Wang Chen, Qiu Xueping, Hu Hui and 7 more
[Genetic analysis of a child with D bifunctional protein deficiency born to a consanguineous pedigree].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-07-10 | PMID 37368393
Li Lijia, Long Qingyi, Wen Xiaomei and 4 more
[Establishment of a PCR-SSP method for the simultaneous amplification and identification of the presence of KIR genes].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-07-10 | PMID 37368395
Deng Zhihui, Zhen Jianxin, Zhang Geng and 3 more
[Research progress on the prognosis of patients with various types of Methylmalonic acidemia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-07-10 | PMID 37368397
Ling Shiying, Shuai Ruixue, Han Lianshu
Multi-trait stability index for the identification of shoot fly (Atherigona soccata) resistant sorghum lines from a mini core collection.
Pest management science | 2023-11-01 | PMID 37368500
Madhusudhana Ragimasalawada, Padmaja Poluru Gunnampati
Transgenic Drosophila to Functionally Validate Fall Armyworm ABCC2 Mutations Conferring Bt Resistance.
Toxins | 2023-06-07 | PMID 37368687
Panteleri Rafaela, Anthousi Amalia, Denecke Shane and 3 more
Dose-dependent Association of Alcohol Consumption With Obesity and Type 2 Diabetes: Mendelian Randomization Analyses.
The Journal of clinical endocrinology and metabolism | 2023-11-17 | PMID 37368847
Lu Tianyuan, Nakanishi Tomoko, Yoshiji Satoshi and 3 more
Mathematical modeling the order of driver gene mutations in colorectal cancer.
PLoS computational biology | 2023-06-01 | PMID 37368936
Li Lingling, Hu Yulu, Xu Yunshan and 1 more
Tobacco Smoking and Pack-Years Are Associated With Frailty Among People With HIV.
Journal of acquired immune deficiency syndromes (1999) | 2023-10-01 | PMID 37368939
Ruderman Stephanie A, Odden Michelle C, Webel Allison R and 31 more
Genes: CD4
Relationship Among Diabetes, Obesity, and Cardiovascular Disease Phenotypes: A UK Biobank Cohort Study.
Diabetes care | 2023-08-01 | PMID 37368983
Brown Oliver I, Drozd Michael, McGowan Hugo and 13 more
Metabolic liver cancer: associations of rare and common germline variants in one-carbon metabolism and DNA methylation genes.
Human molecular genetics | 2023-08-07 | PMID 37369012
Antwi Samuel O, Heckman Michael, White Launia and 21 more
Integrating GWAS summary statistics, individual-level genotypic and omic data to enhance the performance for large-scale trait imputation.
Human molecular genetics | 2023-08-26 | PMID 37369060
Ren Jingchen, Lin Zhaotong, Pan Wei
ERBIN and phosphoglucomutase 3 deficiency.
Current opinion in immunology | 2023-10-01 | PMID 37369151
Milner Joshua D
Exploring the Associations and Molecular Impacts of miR-146a/rs2910164 and miR-196a2/rs185070757 with Rheumatoid Arthritis in a Pakistani Population.
Lifestyle genomics | 2023-01-01 | PMID 37369185
Ali Yasir, Khan Aamir, Akhtar Mehran and 6 more
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population.
American journal of human genetics | 2023-07-06 | PMID 37369202
Bundalian Linnaeus, Su Yin-Yuan, Chen Siwei and 11 more
Genes: FLNA, TNC
Novel beta-glucocerebrosidase chaperone compounds identified from cell-based screening reduce pathologically accumulated glucosylsphingosine in iPS-derived neuronal cells.
SLAS discovery : advancing life sciences R & D | 2023-10-01 | PMID 37369311
Naito Yusuke, Sakamoto Sou, Kojima Takuto and 3 more
New mutant alleles for Spargel/dPGC-1 highlights the function of Spargel RRM domain in oogenesis and expands the role of Spargel in embryogenesis and intracellular transport.
G3 (Bethesda, Md.) | 2023-08-30 | PMID 37369430
Roy Swagota D, Nagarajan Sabarish, Jalal Md Shah and 2 more
Characterization of direct and/or indirect genetic associations for multiple traits in longitudinal studies of disease progression.
Genetics | 2023-08-31 | PMID 37369448
Brossard Myriam, Paterson Andrew D, Espin-Garcia Osvaldo and 2 more
Conversion Surgery After Encorafenib Plus Cetuximab for Chemorefractory BRAF V600E-mutated Colorectal Cancer With Para-aortic Lymph Node Metastases.
In vivo (Athens, Greece) | 2000-01-01 | PMID 37369457
Kawata Ayane, Miyamoto Yuji, Fukubayashi Kotaro and 6 more
Impact of Pattern Recognition Receptors on the Prognosis of Chemotherapy-treated Rectal Cancer Patients.
In vivo (Athens, Greece) | 2000-01-01 | PMID 37369459
Chang Chia-Lin, Huang Kevin Chih-Yang, Chen Tsung-Wei and 5 more
Reduced Production of JAK2V617F-positive Microparticles at Mild Hypothermia.
In vivo (Athens, Greece) | 2000-01-01 | PMID 37369465
Hekimoglu Hilal, Demirtas Esra Nur, Sozer Selcuk
The Association of DNA Ligase 1 Rs20579 Polymorphism With Lung Cancer Risk Among Taiwanese.
In vivo (Athens, Greece) | 2000-01-01 | PMID 37369482
Chang Shang-Miao, Yang Ya-Chen, Chen Guan-Liang and 8 more
Reclassification of Splicing Gene Variants in Hereditary Cancer: Cases Report and Literature Review.
In vivo (Athens, Greece) | 2000-01-01 | PMID 37369490
Bouzarelou Dimitra, Agiannitopoulos Konstantinos, Tsaousis Georgios N and 2 more
Role of Reduced Bdnf Expression in Novel Apc Mutant Allele-induced Intestinal and Colonic Tumorigenesis in Mice.
In vivo (Athens, Greece) | 2000-01-01 | PMID 37369509
Gok Ayşenur, Işik Aynur, Bakir Sinem and 6 more
Small-molecule Ro-08-2750 interacts with many RNA-binding proteins and elicits MUSASHI2-independent phenotypes.
RNA (New York, N.Y.) | 2023-10-01 | PMID 37369529
Walters Kathryn, Sajek Marcin Piotr, Murphy Elisabeth and 8 more
Epidermal growth factor receptor compound and concomitant mutations: advances in precision treatment strategies.
Chinese medical journal | 2023-12-05 | PMID 37369640
Li Wenqian, Bai Rilan, Guo Hanfei and 1 more
Integrating GWAS and proteome data to identify novel drug targets for MU.
Scientific reports | 2023-06-27 | PMID 37369724
Wu Yadong, Song Jukun, Liu Manyi and 2 more
Integrated analysis of canine soft tissue sarcomas identifies recurrent mutations in TP53, KMT genes and PDGFB fusions.
Scientific reports | 2023-06-27 | PMID 37369741
Das Sunetra, Idate Rupa, Lana Susan E and 2 more
Machine learning-based somatic variant calling in cell-free DNA of metastatic breast cancer patients using large NGS panels.
Scientific reports | 2023-06-27 | PMID 37369746
Jongbloed Elisabeth M, Jansen Maurice P H M, de Weerd Vanja and 11 more
Causal relationship between leisure sedentary behaviors and low back pain risk: a Mendelian randomization study.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society | 2023-09-01 | PMID 37369748
Zhu Qianyin, Chen Lingshan, Shen Cuizhen
Identification of candidate lethal haplotypes and genomic association with post-natal mortality and reproductive traits in Nellore cattle.
Scientific reports | 2023-06-27 | PMID 37369809
Schmidt Patrícia Iana, Mota Lucio Flavio Macedo, Fonseca Larissa Fernanda Simielli and 12 more
Modeling of mitochondrial genetic polymorphisms reveals induction of heteroplasmy by pleiotropic disease locus 10398A>G.
Scientific reports | 2023-06-27 | PMID 37369829
Smullen Molly, Olson Meagan N, Murray Liam F and 13 more
Alopecia areata-like pattern of baldness: the most recent update and the expansion of novel phenotype and genotype in the CTNNB1 gene.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2023-11-01 | PMID 37369877
Moeinafshar Aysan, Tehrani Fateh Sahand, Sadeghi Hossein and 6 more
Genes: CTNNB1
Role of MTHFR 677C>T and 1298A>C gene polymorphisms on renal toxicity caused by lead exposure in wastewater treatment plant workers.
Environmental science and pollution research international | 2023-07-01 | PMID 37369904
Saad-Hussein Amal, Shousha Wafaa Ghoneim, Al-Sadek Sara Yahya Mohamed and 1 more
A Mendelian randomization study on causal effects of 25(OH) vitamin D levels on diabetic nephropathy.
BMC nephrology | 2023-06-27 | PMID 37369991
He Mingjie, Yang Ting, Zhou Ping and 4 more
Molecular characterisation of human adenoviruses associated with respiratory infections in Uganda.
BMC infectious diseases | 2023-06-27 | PMID 37370005
Ukuli Qouilazoni A, Erima Bernard, Mubiru Andrew and 7 more
Genetic variants in epoxyeicosatrienoic acid processing and degradation pathways are associated with gestational diabetes mellitus.
Nutrition journal | 2023-06-28 | PMID 37370090
Lai Siyu, Yan Dandan, Xu Jie and 9 more
Characterization of the novel HLA-C*12:384 allele by sequencing-based typing.
HLA | 2023-10-01 | PMID 37370209
Cargou Marine, Elsermans Vincent, Top Isabelle and 2 more
Characterization of the novel HLA-DPA1*02:03:05 allele by next generation sequencing.
HLA | 2023-10-01 | PMID 37370240
Liacini Abdelhamid, Peters Lindsey, Mancini Shannon and 2 more
Heme-Induced Macrophage Phenotype Switching and Impaired Endogenous Opioid Homeostasis Correlate with Chronic Widespread Pain in HIV.
Cells | 2023-06-06 | PMID 37371035
Chatterjee Tanima, Arora Itika, Underwood Lilly B and 5 more
Horizontal Transfer of Malignant Traits and the Involvement of Extracellular Vesicles in Metastasis.
Cells | 2023-06-06 | PMID 37371036
Arena Goffredo O, Forte Stefano, Abdouh Mohamed and 3 more
Comparative Analysis of Two Candida parapsilosis Isolates Originating from the Same Patient Harbouring the Y132F and R398I Mutations in the ERG11 Gene.
Cells | 2023-06-07 | PMID 37371049
Štefánek Matúš, Garaiová Martina, Valček Adam and 2 more
Genetic Variations in IL-1β, TNF-α, and TGF-β Associated with the Severity of Chronic Cervical Spondylitis in Patients.
Cells | 2023-06-09 | PMID 37371064
Yadav Shashi Ranjan Mani, Goyal Bela, Mamgain Garima and 7 more
Generation of a Syngeneic Heterozygous ACVRL1(wt/mut) Knockout iPS Cell Line for the In Vitro Study of HHT2-Associated Angiogenesis.
Cells | 2023-06-10 | PMID 37371070
Xiang-Tischhauser Li, Bette Michael, Rusche Johanna R and 8 more
Is Cutaneous T-Cell Lymphoma Caused by Ultraviolet Radiation? A Comparison of UV Mutational Signatures in Malignant Melanoma and Mycosis Fungoides.
Cells | 2023-06-13 | PMID 37371087
Gniadecki Robert, O'Keefe Sandra, Hennessey Dylan and 1 more
A Novel Small NPC1 Promoter Enhances AAV-Mediated Gene Therapy in Mouse Models of Niemann-Pick Type C1 Disease.
Cells | 2023-06-13 | PMID 37371089
Hughes Michael Paul, Nelvagal Hemanth Ramesh, Coombe-Tennant Oliver and 6 more
Vascular Inflammatory Diseases and Endothelial Phenotypes.
Cells | 2023-06-15 | PMID 37371110
Immanuel Jenita, Yun Sanguk
The Effects of Growth Modification on Pollen Development in Spring Barley (Hordeum vulgare L.) Genotypes with Contrasting Drought Tolerance.
Cells | 2023-06-18 | PMID 37371126
Ogrodowicz Piotr, Wojciechowicz Maria Katarzyna, Kuczyńska Anetta and 2 more
Oleic Acid Status Positively Correlates with the Soluble Receptor for Advanced Glycation End-Products (sRAGE) in Healthy Adults Who Are Homozygous for G Allele of RAGE G82S Polymorphism.
Cells | 2023-06-19 | PMID 37371132
Deo Permal, Dhillon Varinderpal S, Thomas Philip and 1 more
Increased Prevalence of Alpha-1-Antitrypsin Deficiency in Patients with Biliary Tract Cancer and Its Associated Clinicopathological Features.
Cells | 2023-06-19 | PMID 37371133
Cornillet Martin, Zemack Helen, Jansson Hannes and 3 more
Mitochondrial Diabetes Is Associated with the ND4 G11696A Mutation.
Biomolecules | 2023-05-30 | PMID 37371486
Ding Yu, Zhang Shunrong, Guo Qinxian and 1 more
Genetic Dissection of Spike Productivity Traits in the Siberian Collection of Spring Barley.
Biomolecules | 2023-05-30 | PMID 37371489
Rozanova Irina V, Grigoriev Yuriy N, Efimov Vadim M and 2 more
YES1 Kinase Mediates the Membrane Removal of Rescued F508del-CFTR in Airway Cells by Promoting MAPK Pathway Activation via SHC1.
Biomolecules | 2023-06-06 | PMID 37371529
Barros Patrícia, Matos Ana M, Matos Paulo and 1 more
Immune Phenotype as a Biomarker for Systemic Lupus Erythematosus.
Biomolecules | 2023-06-08 | PMID 37371540
Nakayamada Shingo, Tanaka Yoshiya
Effects of the Combination of the C1473G Mutation in the Tph2 Gene and Lethal Yellow Mutations in the Raly-Agouti Locus on Behavior, Brain 5-HT and Melanocortin Systems in Mice.
Biomolecules | 2023-06-08 | PMID 37371543
Komleva Polyna D, Alhalabi Ghofran, Izyurov Arseniy E and 2 more
Senopathies-Diseases Associated with Cellular Senescence.
Biomolecules | 2023-06-08 | PMID 37371545
Lushchak Oleh, Schosserer Markus, Grillari Johannes
Dysregulation of SWI/SNF Chromatin Remodelers in NSCLC: Its Influence on Cancer Therapies including Immunotherapy.
Biomolecules | 2023-06-13 | PMID 37371564
Shi Yijiang, Shin Daniel Sanghoon
Identification of ZmBK2 Gene Variation Involved in Regulating Maize Brittleness.
Genes | 2023-05-23 | PMID 37372306
Xu Wei, Zhao Yan, Liu Qingzhi and 6 more
QTL Mapping for Ovary- and Fruit-Related Traits in Cucumis sativus-C. hystrix Introgression Line IL52.
Genes | 2023-05-23 | PMID 37372313
Wang Yuhui, Fang Yu, Ning Shixiong and 7 more
DNA Methyltransferase Genes Are Associated with Oral Mucositis and Creatinine Levels in Oncopediatric Patients.
Genes | 2023-05-24 | PMID 37372315
de Souza Beatriz Fernandes, Viana Filho José Maria Chagas, de Queiroz Neto José Nunes and 4 more
Identification and Functional Analysis of Transcriptome Profiles, Long Non-Coding RNAs, Single-Nucleotide Polymorphisms, and Alternative Splicing from the Oocyte to the Preimplantation Stage of Sheep by Single-Cell RNA Sequencing.
Genes | 2023-05-25 | PMID 37372325
Zhang Zijing, Shi Qiaoting, Zhu Xiaoting and 11 more
Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder.
Genes | 2023-05-26 | PMID 37372334
Gonzalez Joseph Nicho, Goldman Sylvie, Carter Melissa T and 1 more
Genetic Diversity of Durum Wheat (Triticum turgidum L. ssp. durum, Desf) Germplasm as Revealed by Morphological and SSR Markers.
Genes | 2023-05-26 | PMID 37372335
Dagnaw Temesgen, Mulugeta Behailu, Haileselassie Teklehaimanot and 3 more
Genetic Mapping of Genotype-by-Ploidy Effects in Arabidopsis thaliana.
Genes | 2023-05-26 | PMID 37372341
Wijnen Cris L, Becker Frank F M, Okkersen Andries A and 5 more
The Role of Genetic and Epigenetic Regulation in Intestinal Fibrosis in Inflammatory Bowel Disease: A Descending Process or a Programmed Consequence?
Genes | 2023-05-27 | PMID 37372347
Jarmakiewicz-Czaja Sara, Sokal Aneta, Ferenc Katarzyna and 3 more
QTL Mapping and Candidate Gene Identifying for N, P, and K Use Efficiency at the Maturity Stages in Wheat.
Genes | 2023-05-27 | PMID 37372348
Han Xu, Zhang Mingxia, Gao Minggang and 7 more
Association between HSPA8 Gene Variants and Ischemic Stroke: A Pilot Study Providing Additional Evidence for the Role of Heat Shock Proteins in Disease Pathogenesis.
Genes | 2023-05-27 | PMID 37372351
Kobzeva Ksenia A, Soldatova Maria O, Stetskaya Tatiana A and 7 more
An Overview of Mapping Quantitative Trait Loci in Peanut (Arachis hypogaea L.).
Genes | 2023-05-28 | PMID 37372356
Kassie Fentanesh C, Nguepjop Joël R, Ngalle Hermine B and 9 more
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Genes | 2023-05-29 | PMID 37372360
Parra Alejandro, Rabin Rachel, Pappas John and 22 more
Genetic Diversity and Population Structure in Türkiye Bread Wheat Genotypes Revealed by Simple Sequence Repeats (SSR) Markers.
Genes | 2023-05-29 | PMID 37372362
Türkoğlu Aras, Haliloğlu Kamil, Mohammadi Seyyed Abolgahasem and 6 more
Association between Aldosterone Synthase (CYP11B2) Gene Polymorphism and Hypertension in Pashtun Ethnic Population of Khyber Pakhtunkwha, Pakistan.
Genes | 2023-05-29 | PMID 37372364
Shah Waheed Ali, Jan Asif, Khan Muhammad Asghar and 6 more
The Distribution of the Genotypes of ABCB1 and CES1 Polymorphisms in Kazakhstani Patients with Atrial Fibrillation Treated with DOAC.
Genes | 2023-05-29 | PMID 37372371
Abdrakhmanov Ayan, Akilzhanova Ainur, Shaimerdinova Aizhan and 8 more
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation.
Genes | 2023-05-29 | PMID 37372373
Kirkby Jennifer, Halford Stephanie, Shanks Morag and 6 more
Association of ACTN3 R577X Polymorphism with Elite Basketball Player Status and Training Responses.
Genes | 2023-05-29 | PMID 37372374
Demirci Berkay, Bulgay Celal, Ceylan Halil İbrahim and 10 more
A Comparison of Non-Destructive Visceral Swab and Tissue Biopsy Sampling Methods for Genotyping-by-Sequencing in the Freshwater Mussel Fusconaia askewi.
Genes | 2023-05-30 | PMID 37372377
Harrison Matthew, Sotola V Alex, Zalmat Alexander and 4 more
Whole Genome Resequencing Helps Study Important Traits in Chickens.
Genes | 2023-05-30 | PMID 37372379
Xiong Xinwei, Liu Jianxiang, Rao Yousheng
Prediction of Tumor Development and Urine-Based Liquid Biopsy for Molecule-Targeted Therapy of Gliomas.
Genes | 2023-05-30 | PMID 37372381
Kurimoto Michihiro, Rockenbach Yumi, Kato Akira and 1 more
Digenic Congenital Hypogonadotropic Hypogonadism Due to Heterozygous GNRH1 p.R31C and AMHR2 p.G445_L453del Variants.
Genes | 2023-05-31 | PMID 37372384
Stuckey Bronwyn G A, Jones Timothy W, Ward Bryan K and 1 more
Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG-An Observational Study and Literature Review.
Genes | 2023-05-31 | PMID 37372388
Hutny Michal, Lipinski Patryk, Jezela-Stanek Aleksandra
PKD1 Nonsense Variant in a Lagotto Romagnolo Family with Polycystic Kidney Disease.
Genes | 2023-06-01 | PMID 37372390
Drögemüller Michaela, Klein Nadine, Steffensen Rikke Lill and 3 more
Genome-Wide Assessment of Runs of Homozygosity by Whole-Genome Sequencing in Diverse Horse Breeds Worldwide.
Genes | 2023-06-01 | PMID 37372391
Chen Chujie, Zhu Bo, Tang Xiangwei and 5 more
Efficient and Specific Generation of MSTN-Edited Hu Sheep Using C-CRISPR.
Genes | 2023-06-02 | PMID 37372396
Guo Rihong, Wang Huili, Meng Chunhua and 11 more
Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions.
Genes | 2023-06-02 | PMID 37372397
Feichtinger René G, Preisel Martin, Brugger Karin and 2 more
Evaluation of the Analytical Performance of Oncomine Lung cfDNA Assay for Detection of Plasma EGFR Mutations.
Genes | 2023-06-02 | PMID 37372399
Cho Yong Gon, Park Joonhong, Han Ji Yoon and 1 more
Interstitial Deletion of 3q21 in a Kuwaiti Child with Multiple Congenital Anomalies-Expanding the Phenotype.
Genes | 2023-06-05 | PMID 37372405
Almoosawy Noor, Albaghli Fawaz, Al-Balool Haya H and 4 more
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
Genes | 2023-06-07 | PMID 37372410
Ambrosini Enrico, Montanari Francesca, Cristalli Carlotta Pia and 4 more