Integration of expression QTLs with fine mapping via SuSiE.
PLoS genetics | 2024-01-01 | PMID 38271473
Zhang Xiangyu, Jiang Wei, Zhao Hongyu
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 9364 of 10600
Changing fitness effects of mutations through long-term bacterial evolution.
Science (New York, N.Y.) | 2024-01-26 | PMID 38271521
Couce Alejandro, Limdi Anurag, Magnan Melanie and 5 more
Interaction Between Genetic Susceptibility and COVID-19 Pathogenesis in Pediatric Multisystem Inflammatory Disorders: The Role of Immune Responses.
Viral immunology | 2000-01-01 | PMID 38271561
Chen Li-Na, Shou Zhang-Xuan, Jin Xue
The k-Robinson-Foulds Dissimilarity Measures for Comparison of Labeled Trees.
Journal of computational biology : a journal of computational molecular cell biology | 2024-04-01 | PMID 38271573
Khayatian Elahe, Valiente Gabriel, Zhang Louxin
Mutations of ribosomal protein genes induce overexpression of catalase in Saccharomyces cerevisiae.
FEMS yeast research | 2024-01-09 | PMID 38271612
Hsu Ching-Hsiang, Liu Ching-Yu, Lo Kai-Yin
Estimation of Distribution Algorithm for Grammar-Guided Genetic Programming.
Evolutionary computation | 2024-12-02 | PMID 38271634
Criado Pablo Ramos, Rolanía D Barrios, de la Hoz David and 1 more
First-line immunotherapy for lung cancer with MET exon 14 skipping and the relevance of TP53 mutations.
European journal of cancer (Oxford, England : 1990) | 2024-03-01 | PMID 38271745
Blasi Miriam, Kuon Jonas, Lüders Heike and 19 more
Genes: TP53, MET
Multiple medicinal chemistry strategies of targeting KRAS: State-of-the art and future directions.
Bioorganic chemistry | 2024-03-01 | PMID 38271825
Shang Yanguo, Fu Shengnan, Hao Qingjing and 3 more
NRF2 mutation enhances the immune escape of hepatocellular carcinoma by reducing STING activation.
Biochemical and biophysical research communications | 2024-02-26 | PMID 38271834
Li Cheng, Liang Gang, Yan Ke and 1 more
Contrastive learning-based histopathological features infer molecular subtypes and clinical outcomes of breast cancer from unannotated whole slide images.
Computers in biology and medicine | 2024-03-01 | PMID 38271839
Liu Hui, Zhang Yang, Luo Judong
Mutation Endmember Library Sparse Mixed Abundance Estimation Model for Glioma Margin Determination with Raman Spectroscopy.
Analytical chemistry | 2024-05-28 | PMID 38271956
Li Qingbo, Wang Jianwen
Association between dietary and behavioral-based oxidative balance score and phenotypic age acceleration: a cross-sectional study of Americans.
Epidemiology and health | 2024-01-01 | PMID 38271958
Wu Dongzhe, Shen Yulin, Qu Chaoyi and 7 more
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
American journal of human genetics | 2024-02-01 | PMID 38272031
Bauwens Miriam, Celik Elifnaz, Zur Dinah and 17 more
Prostate cancer: Molecular aspects, consequences, and opportunities of the multifocal nature.
Biochimica et biophysica acta. Reviews on cancer | 2024-03-01 | PMID 38272101
Skotheim Rolf I, Bogaard Mari, Carm Kristina T and 2 more
Genotype-dependent N-glycosylation and newly exposed O-glycosylation affect plasmin-induced cleavage of histidine-rich glycoprotein (HRG).
The Journal of biological chemistry | 2024-03-01 | PMID 38272220
Zou Yang, Pronker Matti F, Damen J Mirjam A and 2 more
Discovery and engineering of AiEvo2, a novel Cas12a nuclease for human gene editing applications.
The Journal of biological chemistry | 2024-03-01 | PMID 38272227
Sharrar Allison, Arake de Tacca Luisa, Meacham Zuriah and 4 more
Trp207 regulation of voltage-dependent activation of human Hv1 proton channel.
The Journal of biological chemistry | 2024-03-01 | PMID 38272234
Zhang Lu, Wu Xin, Cao Xinyu and 2 more
flgL mutation reduces pathogenicity of Aeromonas hydrophila by negatively regulating swimming ability, biofilm forming ability, adherence and virulence gene expression.
International journal of biological macromolecules | 2024-03-01 | PMID 38272420
Xiong Caijiang, Xiong Chuanyu, Lu Jiahui and 8 more
Rescue of secretion of rare-disease-associated misfolded mutant glycoproteins in UGGT1 knock-out mammalian cells.
Traffic (Copenhagen, Denmark) | 2024-01-01 | PMID 38272446
Tax Gabor, Guay Kevin P, Pantalone Ludovica and 14 more
Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele.
Traffic (Copenhagen, Denmark) | 2024-01-01 | PMID 38272447
Gariballa Nesrin, Badawi Sally, Ali Bassam R
High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma.
Human molecular genetics | 2024-04-18 | PMID 38272457
Greatbatch Connor J, Lu Qinyi, Hung Sandy and 14 more
Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes.
Human molecular genetics | 2024-04-08 | PMID 38272461
Karas Brittany F, Terez Kristin R, Mowla Shorbon and 6 more
Discovery of Novel Coumarin-quinolinium Derivatives as Pan-KRAS Translation Inhibitors by Targeting 5'-UTR RNA G-Quadruplexes.
Journal of medicinal chemistry | 2024-02-08 | PMID 38272464
Li Mao-Lin, Dai Le-Tian, Gao Zhuo-Yu and 6 more
Level of biochemical parameters in patients with type 2 diabetes mellitus depending on the genotype of the FokI polymorphism in the vitamin D3 receptor (VDR gene).
Central European journal of public health | 2023-12-01 | PMID 38272481
Konečná Mária, Poráčová Janka, Nagy Melinda and 7 more
Initial screening of the rs104893657 variant of the PAX8 gene in women with hypothyroidism from Northeastern Slovakia.
Central European journal of public health | 2023-12-01 | PMID 38272482
Mydlárová Blaščáková Marta, Homjáková Barbora, Nagy Melinda and 6 more
Sources of bias in applying close-kin mark-recapture to terrestrial game species with different life histories.
Ecology | 2024-03-01 | PMID 38272487
Sévêque Anthony, Lonsinger Robert C, Waits Lisette P and 8 more
Specialist reassociation and residence time modulate the evolution of defense in invasive plants: A meta-analysis.
Ecology | 2024-03-01 | PMID 38272490
Yi Jiahui, Wan Jinlong, Tielbörger Katja and 3 more
Additional mutation in PROKR2 and phenotypic differences in a Kallmann syndrome/normosmic congenital hypogonadotropic hypogonadism family carrying FGFR1 missense mutation.
BMJ case reports | 2024-01-25 | PMID 38272512
Ichioka Kentaro, Yoshikawa Takeshi, Kimura Hiroko and 1 more
Genotype and phenotype correlation of PHACTR1-related neurological disorders.
Journal of medical genetics | 2024-05-21 | PMID 38272663
Xu Zhao, Sadleir Lynette, Goel Himanshu and 9 more
Genes: PHACTR1, PPP1CA
Astrocyte-Derived Exosomal miR-148a-3p Suppresses Neuroinflammation and Restores Neurological Function in Traumatic Brain Injury by Regulating the Microglial Phenotype.
eNeuro | 2024-02-01 | PMID 38272675
Qian Yan, Li Xin, Li Guiliang and 7 more
[Pulmonary complications of Chronic Granulomatous Disease].
Revue des maladies respiratoires | 2024-02-01 | PMID 38272769
Salvator H, Mahlaoui N, Suarez F and 11 more
Molecular basis of DEL phenotype in the Indian population: Insights from next-generation sequencing analysis of two cases.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis | 2024-04-01 | PMID 38272782
Rophina Mercy, Sinha Ayesha, Biswas Durba and 3 more
Congenital heart defects in Arabian horses and the prospects of genetic testing: A review.
Equine veterinary journal | 2024-09-01 | PMID 38272847
Brown Caitlin, Stefaniuk-Szmukier Monika, Decloedt Annelies and 3 more
Structural and functional insights into the lipid regulation of human anion exchanger 2.
Nature communications | 2024-01-26 | PMID 38272905
Zhang Weiqi, Ding Dian, Lu Yishuo and 8 more
Interplay between ATRX and IDH1 mutations governs innate immune responses in diffuse gliomas.
Nature communications | 2024-01-25 | PMID 38272925
Hariharan Seethalakshmi, Whitfield Benjamin T, Pirozzi Christopher J and 24 more
Genes: ATRX, IDH1
An appraisal of lung computer tomography in very early anti-inflammatory treatment of two different ovine ARDS phenotypes.
Scientific reports | 2024-01-25 | PMID 38272980
Wildi Karin, Colombo Sebastiano Maria, McGuire Daniel and 16 more
Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing.
Scientific reports | 2024-01-25 | PMID 38273042
Xue Huili, Yu Aili, Zhang Lin and 7 more
An extremely rare case of hypoglycemia with a novel mutation and review of the literature: fructose-1,6 bisphosphatase deficiency in an adult man.
Irish journal of medical science | 2024-06-01 | PMID 38273074
Doğruel Hakan, Aydemir Mustafa, Yılmaz Nusret and 1 more
Variation in temperature of peak trait performance constrains adaptation of arthropod populations to climatic warming.
Nature ecology & evolution | 2024-03-01 | PMID 38273123
Pawar Samraat, Huxley Paul J, Smallwood Thomas R C and 6 more
Identification of a DLG3 stop mutation in the MRX20 family.
European journal of human genetics : EJHG | 2024-03-01 | PMID 38273165
Huyghebaert Jolien, Mateiu Ligia, Elinck Ellen and 7 more
Genes: DLG3, SSX1, USP27X
Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature.
European journal of human genetics : EJHG | 2024-04-01 | PMID 38273166
Hoogenboom Amarens, Falix Farah A, van der Laan Liselot and 4 more
Genes: PUF60
Base editor-mediated large-scale screening of functional mutations in bacteria for industrial phenotypes.
Science China. Life sciences | 2024-05-01 | PMID 38273187
Yuan Yaomeng, Liao Xihao, Li Shuang and 2 more
Comparative genomic analyses provide new insights into evolutionary history and conservation genomics of gorillas.
BMC ecology and evolution | 2024-01-26 | PMID 38273244
van der Valk Tom, Jensen Axel, Caillaud Damien and 1 more
A high-performance computational workflow to accelerate GATK SNP detection across a 25-genome dataset.
BMC biology | 2024-01-25 | PMID 38273258
Zhou Yong, Kathiresan Nagarajan, Yu Zhichao and 16 more
Preliminary study of the effect of gut microbiota on the development of prostatitis.
BMC medical genomics | 2024-01-25 | PMID 38273299
Shen Cheng, Chen Zhan, Zhang Wei and 3 more
Kdr genotyping and the first report of V410L and V1016I kdr mutations in voltage-gated sodium channel gene in Aedes aegypti (Diptera: Culicidae) from Iran.
Parasites & vectors | 2024-01-25 | PMID 38273349
Enayati Ahmadali, Valadan Reza, Bagherzadeh Mahboobeh and 14 more
Genes: DDT
Characterization of the novel HLA-DRB3*02:194 allele by sequencing-based typing.
HLA | 2024-01-01 | PMID 38273423
Blandin Lucie, Visentin Jonathan, Guidicelli Gwendaline and 2 more
Characterization of the novel HLA-B*15:01:75 allele identified by next-generation sequencing in a Chinese family.
HLA | 2024-01-01 | PMID 38273424
Zhang Yan, Wang Jiying, Yao Yao and 1 more
Characterization of the novel HLA-DPA1*02:122 allele by sequencing-based typing.
HLA | 2024-01-01 | PMID 38273433
Blandin Lucie, Duclaut Marion, Ralazamahaleo Mamy and 2 more
Characterization of the novel HLA-B*14:122 allele by sequencing-based typing.
HLA | 2024-01-01 | PMID 38273443
Blandin Lucie, Ralazamahaleo Mamy, Cargou Marine and 2 more
Spatial variation in population genomic responses to over a century of anthropogenic change within a tidal marsh songbird.
Global change biology | 2024-01-01 | PMID 38273486
Benham Phred M, Walsh Jennifer, Bowie Rauri C K
Improper data practices erode the quality of global ecological databases and impede the progress of ecological research.
Global change biology | 2024-01-01 | PMID 38273575
Augustine Steven P, Bailey-Marren Isaac, Charton Katherine T and 2 more
Genes: SLA
Interpreting protein abundance in Saccharomyces cerevisiae through relational learning.
Bioinformatics (Oxford, England) | 2024-02-01 | PMID 38273672
Brunnsåker Daniel, Kronström Filip, Tiukova Ievgeniia A and 1 more
Succinate dehydrogenase mutations in head and neck paragangliomas: A systematic review and meta-analysis of individual patients' data.
Head & neck | 2024-07-01 | PMID 38273766
Koh Elizabeth S, Dabsha Anas, Rahouma Mohamed and 4 more
The P124A mutation of SRP14 alters its migration on SDS-PAGE without impacting its function.
Acta biochimica et biophysica Sinica | 2024-02-25 | PMID 38273782
Liu Yaofu, Zhou Jinqiu
A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping.
Ophthalmic genetics | 2024-04-01 | PMID 38273808
Waldock William J, Taylor Laura J, Sperring Sian and 6 more
Genes: CHM
Analysis of HIF-1α expression and genetic polymorphisms in human clear cell renal cell carcinoma.
Pathology oncology research : POR | 2023-01-01 | PMID 38273861
Vargova Daniela, Kolková Zuzana, Dargaj Jan and 7 more
Genetic Predisposition of Atherosclerotic Cardiovascular Disease in Ancient Human Remains.
Annals of global health | 2024-01-01 | PMID 38273870
Wurst Christina, Maixner Frank, Paladin Alice and 5 more
Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients.
Frontiers in endocrinology | 2023-01-01 | PMID 38274230
Mordenti Marina, Boarini Manila, Banchelli Federico and 9 more
Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss.
F1000Research | 2021-01-01 | PMID 38274408
Sharma Govinda, Zaman Mashiat, Sabouny Rasha and 6 more
Genetic evidence on the causality between gut microbiota and various asthma phenotypes: a two-sample Mendelian randomization study.
Frontiers in cellular and infection microbiology | 2023-01-01 | PMID 38274730
Cheng Zi-Xuan, Wu Yi-Xing, Jie Zhi-Jun and 2 more
The potential role of Hippo pathway regulates cellular metabolism via signaling crosstalk in disease-induced macrophage polarization.
Frontiers in immunology | 2023-01-01 | PMID 38274792
An Yina, Tan Shuyu, Yang Jingjing and 2 more
HLA-DPB1 genotype variants predict DP molecule cell surface expression and DP donor specific antibody binding capacity.
Frontiers in immunology | 2023-01-01 | PMID 38274830
Yin Yuxin, Soe Nwe Nwe, Valenzuela Nicole M and 2 more
The phenotypic reversion of cancer: Experimental evidences on cancer reversibility through epigenetic mechanisms (Review).
Oncology reports | 2024-03-01 | PMID 38275101
Pensotti Andrea, Bizzarri Mariano, Bertolaso Marta
Transformation of an odontogenic keratocyst into a solid variant of odontogenic keratocyst/keratoameloblastoma during long‑term follow‑up: A case report.
Molecular medicine reports | 2024-03-01 | PMID 38275130
Yamasaki Sachiko, Shintani Tomoaki, Ando Toshinori and 2 more
Resting heart rate but not heart rate variability is associated with the normal-weight obesity phenotype.
American journal of human biology : the official journal of the Human Biology Council | 2024-06-01 | PMID 38275139
Plaza-Florido Abel, Ruiz Jonatan R, Alcantara Juan M A
Phenotypic characteristics of patients with chronic widespread pain and fibromyalgia: a cross-sectional cluster analysis.
Scandinavian journal of rheumatology | 2024-09-01 | PMID 38275145
Duhn P H, Christensen R, Locht H and 6 more
Dabrafenib and steroids for the treatment of Erdheim-Chester disease with extensive CNS involvement: a case report.
Personalized medicine | 2024-01-01 | PMID 38275171
Yuen Carlen A, Bao Silin, Aung Mya Sandi and 2 more
Genes: ECD, BRAF, CD68
Genetic alterations in thyroid cancer mediating both resistance to BRAF inhibition and anaplastic transformation.
Oncotarget | 2024-01-24 | PMID 38275291
Lee Mark, Morris Luc Gt
Genes: BRAF, MTOR, ARID2, JAK1, MET, NF2, NRAS, PBRM1
Longitudinal profiling of the intestinal microbiome in children with cystic fibrosis treated with elexacaftor-tezacaftor-ivacaftor.
mBio | 2024-02-14 | PMID 38275294
Reasoner Seth A, Bernard Rachel, Waalkes Adam and 8 more
Genes: CFTR
DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort.
Genes | 2023-12-19 | PMID 38275584
Aiello Valeria, Ciurli Francesca, Conti Amalia and 13 more
Genes: DNAJB11, PKD1, PKD2
The Role of the AT-Rich Interaction Domain 1A Gene (ARID1A) in Human Carcinogenesis.
Genes | 2023-12-19 | PMID 38275587
Li Jing Jing, Lee Cheok Soon
PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene.
Genes | 2023-12-19 | PMID 38275588
Persico Tiziana, Tranquillo Maria Lucrezia, Seracchioli Renato and 2 more
Genetic Diversity and Sequence Conservation of Peptide-Binding Regions of MHC Class I Genes in Pig, Cattle, Chimpanzee, and Human.
Genes | 2023-12-20 | PMID 38275589
Youk Seungyeon, Kang Mingue, Ahn Byeongyong and 2 more
A Missense Mutation in the Collagen Triple Helix of EDA Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle.
Genes | 2023-12-20 | PMID 38275590
Reinartz Sina, Weiß Christine, Heppelmann Maike and 6 more
Genetic Architecture of Abdominal Fat Deposition Revealed by a Genome-Wide Association Study in the Laying Chicken.
Genes | 2023-12-20 | PMID 38275592
Guo Jun, Qu Liang, Shao Dan and 6 more
Genes: COL12A1, HTR2A, SOX5
The Spherical Evolutionary Multi-Objective (SEMO) Algorithm for Identifying Disease Multi-Locus SNP Interactions.
Genes | 2023-12-20 | PMID 38275593
Ren Fuxiang, Li Shiyin, Wen Zihao and 2 more
Genome-Wide Association Analysis of Reproductive Traits in Chinese Holstein Cattle.
Genes | 2023-12-20 | PMID 38275594
Liu Jiashuang, Xu Lingyang, Ding Xiangbin and 1 more
Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35).
Genes | 2023-12-20 | PMID 38275596
German Alexander, Jukic Jelena, Laner Andreas and 7 more
Hotspot Regions of Quantitative Trait Loci and Candidate Genes for Ear-Related Traits in Maize: A Literature Review.
Genes | 2023-12-21 | PMID 38275597
Zhang Xingjie, Sun Jiachen, Zhang Yudong and 8 more
Clinical Signs in 166 Beagles with Different Genotypes of Lafora.
Genes | 2024-01-19 | PMID 38275603
Flegel Thomas, Dirauf Christine, Kehl Alexandra and 4 more
A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum.
Genes | 2024-01-19 | PMID 38275606
Frasuńska Justyna, Pollak Agnieszka, Turczyn Paweł and 4 more
Leptin and Leptin Receptor Polymorphisms in Infants and Their Parents: Correlation with Preterm Birth.
Genes | 2024-01-22 | PMID 38275620
Savino Francesco, Sardo Allegra, Gambarino Stefano and 5 more
Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N-Glycosylation and Reduce Protein Stability.
Cells | 2024-01-21 | PMID 38275824
Xie Connie T Y, Pastore Stephen F, Vincent John B and 2 more
Interplay between HIV and Human Pegivirus (HPgV) Load in Co-Infected Patients: Insights from Prevalence and Genotype Analysis.
Viruses | 2023-12-19 | PMID 38275941
Köksal Muammer Osman, Pirkl Martin, Sarsar Kutay and 7 more
Comprehensive Genetic Characterization of Four Novel HIV-1 Circulating Recombinant Forms (CRF129_56G, CRF130_A1B, CRF131_A1B, and CRF138_cpx): Insights from Molecular Epidemiology in Cyprus.
Viruses | 2023-12-21 | PMID 38275954
Topcu Cicek, Georgiou Vasilis, Rodosthenous Johana Hezka and 6 more
Genomic Characterization and Molecular Evolution of Sapovirus in Children under 5 Years of Age.
Viruses | 2024-01-19 | PMID 38275956
Ji Xiaolei, Guo Chen, Dai Yaoyao and 4 more
Evolutionary-Related High- and Low-Virulent Classical Swine Fever Virus Isolates Reveal Viral Determinants of Virulence.
Viruses | 2024-01-19 | PMID 38275957
Hinojosa Yoandry, Liniger Matthias, García-Nicolás Obdulio and 8 more
High Genetic Diversity in Third-Generation Cephalosporin-Resistant Escherichia coli in Wastewater Systems of Schleswig-Holstein.
Pathogens (Basel, Switzerland) | 2024-01-20 | PMID 38276163
Carlsen Laura, Grottker Matthias, Heim Malika and 4 more
Functional Heterogeneity in MET Pathway Activation in PDX Models of Osimertinib-resistant EGFR-driven Lung Cancer.
Cancer research communications | 2024-02-08 | PMID 38276867
Roper Nitin, El Meskini Rajaa, Maity Tapan and 8 more
Pan-Cancer Comparative and Integrative Analyses of Driver Alterations Using Japanese and International Genomic Databases.
Cancer discovery | 2024-05-01 | PMID 38276885
Horie Sara, Saito Yuki, Kogure Yasunori and 7 more
Genes: CAT, TP53
Teat morphology across five buffalo breeds: a multi-country collaborative study.
Tropical animal health and production | 2024-01-26 | PMID 38276987
Boselli Carlo, Costa Angela, De Marchi Massimo and 15 more
Artificial Intelligence Imaging for Predicting High-risk Molecular Markers of Gliomas.
Clinical neuroradiology | 2024-03-01 | PMID 38277059
Liang Qian, Jing Hui, Shao Yingbo and 2 more
Short-term serial circulating tumor DNA assessment predicts therapeutic efficacy for patients with advanced pancreatic cancer.
Journal of cancer research and clinical oncology | 2024-01-26 | PMID 38277079
Motobayashi Hideki, Kitahata Yuji, Okada Ken-Ichi and 14 more
The Expansion of Genetic Testing in Cardiovascular Medicine: Preparing the Cardiology Community for the Changing Landscape.
Current cardiology reports | 2024-03-01 | PMID 38277082
Reza Nosheen, Alford Raye L, Belmont John W and 1 more
A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.
Current obesity reports | 2024-06-01 | PMID 38277088
Carvalho Laura Machado Lara, Jorge Alexander Augusto de Lima, Bertola Débora Romeo and 2 more
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
eLife | 2024-01-26 | PMID 38277211
Yu Hao, Khanshour Anas M, Ushiki Aki and 22 more
Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation.
Journal of neuromuscular diseases | 2024-01-01 | PMID 38277301
Lu Qi L, Holbrook Molly C, Cataldi Marcela P and 1 more
Association between ELMO1 gene polymorphisms and diabetic kidney disease: A systematic review and meta-analysis.
PloS one | 2024-01-01 | PMID 38277369
Azarboo Alireza, Hosseinkhani Shaghayegh, Ghaseminejad-Raeini Amirhossein and 5 more
Genes: ELMO1
A Novel Variant in the WRN Gene Detected in a Case of Early-Onset Severe Insulin Resistance Displaying Some but Not All Hallmarks of Progeroid Werner Syndrome.
Diabetes care | 2024-05-01 | PMID 38277397
Spira Dominik, Herbst Susanne, Schwartzmann Sarina and 8 more
Genes: WRN