The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation.
Internal medicine (Tokyo, Japan) | 2023-10-01 | PMID 36792195
Takegami Naoki, Mitsutake Akihiko, Mano Tatsuo and 13 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.
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Publications
Page 9112 of 10600
Variants in the Control Region of Mitochondrial Genome Associated with type 2 Diabetes in a Cohort of Mexican Mestizos.
Archives of medical research | 2023-02-01 | PMID 36792418
Santander-Lucio Heriberto, Totomoch-Serra Armando, Muñoz María de Lourdes and 4 more
Genetic correlates of vitamin D-binding protein and 25-hydroxyvitamin D in neonatal dried blood spots.
Nature communications | 2023-02-15 | PMID 36792583
Albiñana Clara, Zhu Zhihong, Borbye-Lorenzen Nis and 18 more
DNALI1 deficiency causes male infertility with severe asthenozoospermia in humans and mice by disrupting the assembly of the flagellar inner dynein arms and fibrous sheath.
Cell death & disease | 2023-02-15 | PMID 36792588
Wu Huan, Liu Yiyuan, Li Yuqian and 11 more
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Nature communications | 2023-02-15 | PMID 36792598
Bernkopf Marie, Abdullah Ummi B, Bush Stephen J and 42 more
Molecular mechanisms of coronary artery disease risk at the PDGFD locus.
Nature communications | 2023-02-15 | PMID 36792607
Kim Hyun-Jung, Cheng Paul, Travisano Stanislao and 11 more
Genes: PDGFD, CAD, C2, FOXC1
Gene based markers improve precision of genome-wide association studies and accuracy of genomic predictions in rice breeding.
Heredity | 2023-05-01 | PMID 36792661
Anilkumar Chandrappa, Muhammed Azharudheen T P, Sah Rameswar Prasad and 4 more
Studying the connection between SF3B1 and four types of cancer by analyzing networks constructed based on published research.
Scientific reports | 2023-02-15 | PMID 36792691
Samy Asmaa, Ozdemir Mehmet Kemal, Alhajj Reda
Genetic monitoring on the world's first MSC eco-labeled common octopus (O. vulgaris) fishery in western Asturias, Spain.
Scientific reports | 2023-02-15 | PMID 36792695
Pirhadi N, Parrondo M, Romero-Bascones A and 8 more
Mitochondrial single-cell ATAC-seq for high-throughput multi-omic detection of mitochondrial genotypes and chromatin accessibility.
Nature protocols | 2023-05-01 | PMID 36792778
Lareau Caleb A, Liu Vincent, Muus Christoph and 11 more
A NPAS4-NuA4 complex couples synaptic activity to DNA repair.
Nature | 2023-02-01 | PMID 36792830
Pollina Elizabeth A, Gilliam Daniel T, Landau Andrew T and 13 more
Genes: NPAS4
Knock-out of the critical nitric oxide synthase regulator DDAH1 in mice impacts amphetamine sensitivity and dopamine metabolism.
Journal of neural transmission (Vienna, Austria : 1996) | 2023-09-01 | PMID 36792833
Kozlova Alena A, Rubets Elena, Vareltzoglou Magdalini R and 8 more
Genetic Association of LEP Gene Polymorphisms with Obesity in Moroccan Individuals: Case-Control Study and Updated Meta-analysis.
Biochemical genetics | 2023-10-01 | PMID 36792840
Bouafi Hind, Krami Al Mehdi, Morjane Imane and 5 more
Branch angle and leaflet shape are associated with canopy coverage in soybean.
The plant genome | 2023-06-01 | PMID 36792954
Virdi Kamaldeep S, Sreekanta Suma, Dobbels Austin and 5 more
The genome sequence of Synechocystis sp. PCC 6803 substrain GT-T and its implications for the evolution of PCC 6803 substrains.
FEBS open bio | 2023-04-01 | PMID 36792971
Koskinen Satu, Kurkela Juha, Linhartová Markéta and 1 more
Screening germplasm and detecting QTLs for mesocotyl elongation trait in rice (Oryza sativa L.) by association mapping.
BMC genomic data | 2023-02-15 | PMID 36792993
Edzesi Wisdom Mawuli, Dang Xiaojing, Liu Erbao and 4 more
Phosphorus and carbohydrate metabolism contributes to low phosphorus tolerance in cotton.
BMC plant biology | 2023-02-16 | PMID 36792994
Iqbal Asif, Qiang Dong, Xiangru Wang and 4 more
petiteFinder: an automated computer vision tool to compute Petite colony frequencies in baker's yeast.
BMC bioinformatics | 2023-02-15 | PMID 36793007
Nunn Christopher J, Klyshko Eugene, Goyal Sidhartha
Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants.
Journal of ovarian research | 2023-02-15 | PMID 36793102
Luo Wei, Ke Hanni, Tang Shuyan and 6 more
The association of paraoxonase I gene polymorphisms Q192R (rs662) and L55M (rs854560) and its activity with metabolic syndrome components in fars ethnic group.
Hormone molecular biology and clinical investigation | 2023-09-01 | PMID 36793191
Marjani Abdoljalal, Poursharifi Nahid, Hashemi Mohammad Mostakhdem and 2 more
KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridine.
Annals of clinical and translational neurology | 2023-04-01 | PMID 36793218
Müller Peter, Takacs Danielle S, Hedrich Ulrike B S and 8 more
Genes: KCNA1
Clinical utility of genomic profiling of AML using paraffin-embedded bone marrow clots: HM-SCREEN-Japan 01.
Cancer science | 2023-05-01 | PMID 36793248
Hosono Naoko, Chi SungGi, Yamauchi Takahiro and 27 more
Characterization of Infiltrating Immune Cells and Secretory or Membrane-Associated Proteins in KRAS Lung Adenocarcinoma.
Journal of immunology research | 2023-01-01 | PMID 36793588
Bian Yunyi, Bi Guoshu, Shan Guangyao and 6 more
Torin1 restores proliferation rate in Charcot-Marie-Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology | 2022-01-01 | PMID 36793649
Zanfardino Paola, Amati Alessandro, Petracca Easter Anna and 2 more
Changes of natural killer cells' phenotype in patients with chronic hepatitis B in intermittent interferon therapy.
Frontiers in immunology | 2023-01-01 | PMID 36793722
Bi Xiaoyue, Xie Si, Wu Shuling and 18 more
Assessment of genetic diversity of the fat-tailed Dumba sheep of India by mitochondrial and microsatellite markers.
Animal biotechnology | 2023-12-01 | PMID 36794377
Mishra Anil Kumar, Ahlawat Sonika, Sharma Rekha and 3 more
PANTOTHENATE KINASE4, LOSS OF GDU2, and TRANSPOSON PROTEIN1 affect the canalization of tomato fruit metabolism.
Plant physiology | 2023-05-02 | PMID 36794426
Wijesingha Ahchige Micha, Fernie Alisdair R, Alseekh Saleh
Genetic variants and haplotypes in fibulin-5 (FBLN5) are associated with pseudoexfoliation glaucoma but not with pseudoexfoliation syndrome.
Bioscience reports | 2023-03-31 | PMID 36794549
Kapuganti Ramani Shyam, Bharati Barsha, Mohanty Pranjya Paramita and 1 more
Afatinib for the treatment of non-small-cell lung cancer with unusual EGFR mutations: a plain language summary.
Future oncology (London, England) | 2023-02-01 | PMID 36794564
Yang James Chih-Hsin
Expanding the reproductive organ phenotype of CHD7-spectrum disorder.
American journal of medical genetics. Part A | 2023-05-01 | PMID 36794641
Nomakuchi Tomoki T, Danowitz Melinda, Stewart Blythe and 14 more
Myelodysplastic syndromes with ring sideroblasts.
Hematological oncology | 2023-10-01 | PMID 36794650
Bruzzese Antonella, Vigna Ernesto, Martino Enrica Antonia and 10 more
An integrated strategy to identify COVID-19 causal genes and characteristics represented by LRRC37A2.
Journal of medical virology | 2023-02-01 | PMID 36794676
Zhu Zijun, Chen Xinyu, Wang Chao and 7 more
Impact of nucleic acid extraction procedures on human papillomavirus (HPV) detection and genotyping.
Journal of medical virology | 2023-02-01 | PMID 36794677
Naegele Klaudia, Weissbach Fabian H, Leuzinger Karoline and 3 more
SARS-CoV-2 spike gene Sanger sequencing methodology to identify variants of concern.
BioTechniques | 2023-02-01 | PMID 36794696
Alhamlan Fatimah S, Bakheet Dana M, Bohol Marie F and 11 more
Asexual reproduction through seeds: the complex case of diplosporous apomixis.
Journal of experimental botany | 2023-04-18 | PMID 36794770
Cornaro Letizia, Banfi Camilla, Cucinotta Mara and 2 more
Development of an efficient expression system with large cargo capacity for interrogation of gene function in bamboo based on bamboo mosaic virus.
Journal of integrative plant biology | 2023-06-01 | PMID 36794821
Jin Yandong, Wang Baijie, Bao Mingchuan and 9 more
CHRNA5-A3-B4 and DRD2 Genes and Smoking Cessation Throughout Adulthood: A Longitudinal Study of Women.
Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco | 2023-05-22 | PMID 36794842
Jones Stephanie K, Alberg Anthony J, Wallace Kristin and 3 more
Genes: CHRNA3, CHRNA5, DRD2, NHS, CHRNB2, CHRNB4, COMT
ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study.
Molecular genetics & genomic medicine | 2023-06-01 | PMID 36794879
Ahangari Najmeh, Gholampour-Faroji Nazanin, Doosti Mohammad and 6 more
The Incompetence of Mosquitoes-Can Zika Virus Be Adapted To Infect Culex tarsalis Cells?
mSphere | 2023-04-20 | PMID 36794947
Gallichotte Emily N, Samaras Demetrios, Murrieta Reyes A and 6 more
Charcoal Rot Severity and Soybean Yield Responses to Planting Date, Irrigation, and Genotypes.
Plant disease | 2023-02-01 | PMID 36794968
Mengistu Alemu, Kelly Heather M, Read Quentin D and 3 more
Pathoclinical associations between panic disorders and the brain-derived neurotrophic factor Val66Met polymorphism: an updated meta-analysis.
Psychiatric genetics | 2023-04-01 | PMID 36794980
Xia Yu, Song Xun, Wu Lijuan and 3 more
Disease-associated mutations in Drp1 have fundamentally different effects on the mitochondrial fission machinery.
Human molecular genetics | 2023-06-05 | PMID 36795043
Bauer Brianna L, Rochon Kristy, Liu Jasmine C and 2 more
Intracellular Delivery of Anti-Kirsten Rat Sarcoma Antibodies Mediated by Polymeric Micelles Exerts Strong In Vitro and In Vivo Anti-Tumorigenic Activity in Kirsten Rat Sarcoma-Mutated Cancers.
ACS applied materials & interfaces | 2023-03-01 | PMID 36795046
Rafael Diana, Montero Sara, Carcavilla Pilar and 10 more
USH2A Gene Mutations in Rabbits Lead to Progressive Retinal Degeneration and Hearing Loss.
Translational vision science & technology | 2023-02-01 | PMID 36795064
Nguyen Van Phuc, Song Jun, Prieskorn Diane and 14 more
Combined nitrogen and drought stress leads to overlapping and unique proteomic responses in potato.
Planta | 2023-02-16 | PMID 36795167
Wellpott Katharina, Jozefowicz Anna M, Meise Philipp and 5 more
Genetic analysis of the tomato russet mite provides evidence of oligophagy and a widespread pestiferous haplotype.
Experimental & applied acarology | 2023-02-01 | PMID 36795266
Duarte Mercia Elias, Lewandowski Mariusz, de Mendonça Renata Santos and 2 more
Evaluation of an automated platform for non-invasive single-exon fetal RHD genotyping early in pregnancy.
Blood transfusion = Trasfusione del sangue | 2023-11-14 | PMID 36795345
Isakson Pauline, Pardi Cecilia
Genes: RHD
Disulfide Bonds Are Not Necessary for Intrinsic TNSALP Activity.
The journal of physical chemistry. B | 2023-03-02 | PMID 36795426
Melkonian Arek V, Gilboa Tal, Walt David R
Local synchronicity in dopamine-rich caudate nucleus influences Huntington's disease motor phenotype.
Brain : a journal of neurology | 2023-08-01 | PMID 36795496
Kasper Jan, Eickhoff Simon B, Caspers Svenja and 6 more
Association Between Susceptibility to SSHL and Single Nucleotide Polymorphisms at the rs2228612 Locus of the DNMT1 Gene and the rs5570459 Locus of the GJB2 Gene.
Alternative therapies in health and medicine | 2023-04-01 | PMID 36795524
Zhang Yanyan, Liu Hua, Song Yang and 2 more
Bioinformatics Analysis of Mutations Sheds Light on the Evolution of Dengue NS1 Protein With Implications in the Identification of Potential Functional and Druggable Sites.
Molecular biology and evolution | 2023-03-04 | PMID 36795614
Sharma Abhishek, Krishna Sudhir, Sowdhamini Ramanathan
Prediction of crossover recombination using parental genomes.
PloS one | 2023-01-01 | PMID 36795698
Peñuela Mauricio, Riccio-Rengifo Camila, Finke Jorge and 4 more
Variants of NOD2 in Leishmania guyanensis-infected patients with cutaneous leishmaniasis and correlations with plasma circulating pro-inflammatory cytokines.
PloS one | 2023-01-01 | PMID 36795715
Mesquita Tirza Gabrielle Ramos de, Junior José do Espírito Santo, Souza Josué Lacerda de and 5 more
Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone.
Proceedings of the National Academy of Sciences of the United States of America | 2023-02-21 | PMID 36795755
Hanna Patrick, Khatri Ashok, Choi Shawn and 10 more
Neuropathology-based APOE genetic risk score better quantifies Alzheimer's risk.
Alzheimer's & dementia : the journal of the Alzheimer's Association | 2023-08-01 | PMID 36795776
Deming Yuetiva, Vasiljevic Eva, Morrow Autumn and 17 more
Hepatitis B virus genotypes and drug resistance mutations circulating in blood donors in Beira, Mozambique.
PloS one | 2023-01-01 | PMID 36795797
Mathew Ann, Ismael Nalia, Meeds Heidi and 4 more
Sequential outbreaks due to mixed ctxB alleles of Vibrio cholerae O1 in Mayurbhanj district of Odisha, India.
Journal of infection in developing countries | 2023-01-31 | PMID 36795928
Pal Bibhuti Bhusan, Nayak Ashish Kumar, Nayak Smruti Ranjan and 1 more
Duplex Phenotype Detection and Targeting of Breast Cancer Cells Using Nanotube Nanoprobes and Raman Imaging.
ACS applied bio materials | 2023-03-20 | PMID 36795958
Mal Suraj, Duarte E Souza Layane, Allard Charlotte and 5 more
Insights into the Conformational Plasticity of the Protein Kinase Akt1 by Multi-Lateral Dipolar Spectroscopy.
Chemistry (Weinheim an der Bergstrasse, Germany) | 2023-04-25 | PMID 36795969
Stehle Juliane, Weisner Jörn, Eichhorn Leanne and 2 more
Long Noncoding RNA Expression Independently Predicts Outcome in Pediatric Acute Myeloid Leukemia.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2023-06-01 | PMID 36795987
Farrar Jason E, Smith Jenny L, Othus Megan and 16 more
Membrane adhesion junctions regulate airway smooth muscle phenotype and function.
Physiological reviews | 2023-07-01 | PMID 36796098
Zhang Wenwu, Wu Yidi, J Gunst Susan
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Neuromuscular disorders : NMD | 2023-03-01 | PMID 36796140
Vivekanandam Vinojini, Jaibaji Rawan, Sud Richa and 8 more
Endocannabinoids enhance hKV7.1/KCNE1 channel function and shorten the cardiac action potential and QT interval.
EBioMedicine | 2023-03-01 | PMID 36796231
Hiniesto-Iñigo Irene, Castro-Gonzalez Laura M, Corradi Valentina and 8 more
Diverse regional mechanisms drive spinocerebellar ataxia type 1 phenotypes.
Neuron | 2023-02-15 | PMID 36796325
Putka Alexandra F, McLoughlin Hayley S
Nicotinic acetylcholine receptors and epilepsy.
Pharmacological research | 2023-03-01 | PMID 36796465
Becchetti Andrea, Grandi Laura Clara, Cerina Marta and 1 more
Covalent targeting the LAS1-NOL9 axis for selective treatment in NPM1 mutant acute myeloid leukemia.
Pharmacological research | 2023-03-01 | PMID 36796466
Han Yefan, Hu Anni, Qu Yi and 7 more
The Rapidly Expanding Genetic Spectrum of Common Variable Immunodeficiency-Like Disorders.
The journal of allergy and clinical immunology. In practice | 2023-06-01 | PMID 36796510
Ameratunga Rohan, Edwards Emily S J, Lehnert Klaus and 8 more
Association of TBX21 gene polymorphisms and acute anterior uveitis risk in a Chinese population: A case-control study.
Experimental eye research | 2023-04-01 | PMID 36796535
Shan Jiankang, Li Lin, Du Liping and 1 more
PipeIT2: A tumor-only somatic variant calling workflow for molecular diagnostic Ion Torrent sequencing data.
Genomics | 2023-03-01 | PMID 36796655
Schnidrig Desiree, Garofoli Andrea, Benjak Andrej and 4 more
Impact of G29179T mutation on two commercial PCR assays for SARS-CoV-2 detection.
Journal of virological methods | 2023-04-01 | PMID 36796678
Kami Wakaki, Kinjo Takeshi, Hashioka Hiroe and 11 more
Landscape Genetics for Brazilian Equines.
Journal of equine veterinary science | 2023-07-01 | PMID 36796740
Pimentel Felipe, McManus Concepta, Soares Kaifer and 4 more
ACTA1 H40Y mutant iPSC-derived skeletal myocytes display mitochondrial defects in an in vitro model of nemaline myopathy.
Experimental cell research | 2023-03-15 | PMID 36796746
Gartz Melanie, Haberman Margaret, Sutton Jessica and 4 more
Mutations in latent membrane protein 1 of Epstein-Barr virus are associated with increased risk of posttransplant lymphoproliferative disorder in children.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons | 2023-05-01 | PMID 36796762
Martinez Olivia M, Krams Sheri M, Robien Mark A and 21 more
Lessons from other fields of medicine, Part 2: Cystic fibrosis.
Handbook of clinical neurology | 2023-01-01 | PMID 36796937
Vijaykumar Kadambari, Rowe Steven M
The theoretical problems of "prodrome" and "phenoconversion" in neurodegeneration.
Handbook of clinical neurology | 2023-01-01 | PMID 36796940
Sturchio Andrea, Espay Alberto J
Neurodegenerative disorders: From clinicopathology convergence to systems biology divergence.
Handbook of clinical neurology | 2023-01-01 | PMID 36796949
Fasano Mauro, Alberio Tiziana
The emergence of genotypic divergence and future precision medicine applications.
Handbook of clinical neurology | 2023-01-01 | PMID 36796950
Kauffman Marcelo Andres, Calderon Valeria Salinas
Identification of new risk loci shared across systemic vasculitides points towards potential target genes for drug repurposing.
Annals of the rheumatic diseases | 2023-06-01 | PMID 36797040
Ortiz-Fernández Lourdes, Carmona Elio G, Kerick Martin and 22 more
Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients.
Brain & development | 2023-05-01 | PMID 36797079
Panicucci Chiara, Casalini Sara, Damasio Beatrice M and 10 more
Detection and characterization of the novel HLA-DPA1*02:66:02N allele, with a premature stop codon in exon 2.
Human immunology | 2023-04-01 | PMID 36797092
Niño Ramírez Jairo Eduardo, Balas Antonio, Gil-Etayo Francisco Javier and 7 more
Alpha1-antitrypsin deficiency in Greece: Focus on rare variants.
Pulmonology | 2000-01-01 | PMID 36797151
Papiris S A, Veith M, Papaioannou A I and 35 more
Impaired Extracellular Proteostasis in Patients with Heart Failure.
Archives of medical research | 2023-04-01 | PMID 36797157
Gouveia Marisol, Teixeira Manuel, Schmidt Cristine and 8 more
Genomic-based genetic parameters for milkability traits derived from automatic milking systems in North American Holstein cattle.
Journal of dairy science | 2023-04-01 | PMID 36797177
Pedrosa Victor B, Boerman Jacquelyn P, Gloria Leonardo S and 4 more
Longitudinal genome-wide association studies of milk production traits in Holstein cattle using whole-genome sequence data imputed from medium-density chip data.
Journal of dairy science | 2023-04-01 | PMID 36797187
Teng Jun, Wang Dan, Zhao Changheng and 11 more
Nonparallel genome changes within subpopulations over time contributed to genetic diversity within the US Holstein population.
Journal of dairy science | 2023-04-01 | PMID 36797192
Steyn Y, Lawlor T, Masuda Y and 4 more
Mouse model of PRSS1 p.R122H-related hereditary pancreatitis highlights context-dependent effect of autolysis-site mutation.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] | 2023-03-01 | PMID 36797199
Jancsó Zsanett, Morales Granda Nataly C, Demcsák Alexandra and 1 more
Deciphering cross-species reactivity of LAMP-1 antibodies using deep mutational epitope mapping and AlphaFold.
mAbs | 2000-01-01 | PMID 36797224
Pruvost Tiphanie, Mathieu Magali, Dubois Steven and 3 more
Polo-like kinase 4 (Plk4) potentiates anoikis-resistance of p53KO mammary epithelial cells by inducing a hybrid EMT phenotype.
Cell death & disease | 2023-02-16 | PMID 36797240
Fonseca Irina, Horta Cíntia, Ribeiro Ana Sofia and 4 more
Exploiting PRMT5 as a target for combination therapy in mantle cell lymphoma characterized by frequent ATM and TP53 mutations.
Blood cancer journal | 2023-02-17 | PMID 36797243
Che Yuxuan, Liu Yang, Yao Yixin and 8 more
Genes: PRMT5, ATM, TP53, ATR, CD19, CDK4
Genome-wide genotype-serum proteome mapping provides insights into the cross-ancestry differences in cardiometabolic disease susceptibility.
Nature communications | 2023-02-16 | PMID 36797296
Xu Fengzhe, Yu Evan Yi-Wen, Cai Xue and 21 more
Climate-driven convergent evolution in riparian ecosystems on sky islands.
Scientific reports | 2023-02-16 | PMID 36797341
Love S J, Schweitzer J A, Bailey J K
Utility of molecular subtypes and genetic alterations for evaluating clinical outcomes in 1029 patients with endometrial cancer.
British journal of cancer | 2023-04-01 | PMID 36797358
Asami Yuka, Kobayashi Kato Mayumi, Hiranuma Kengo and 15 more
Population genetic structure of a recent insect invasion: a gall midge, Asynapta groverae (Diptera: Cecidomyiidae) in South Korea since the first outbreak in 2008.
Scientific reports | 2023-02-16 | PMID 36797385
Kang Ji Hyoun, Ham Daseul, Park Sung Hwan and 4 more
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories.
European journal of human genetics : EJHG | 2023-06-01 | PMID 36797464
Amenta Simona, Marangi Giuseppe, Orteschi Daniela and 8 more
Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing.
European journal of human genetics : EJHG | 2023-05-01 | PMID 36797466
Dixon Katherine, Shen Yaoqing, O'Neill Kieran and 15 more
A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans.
European journal of human genetics : EJHG | 2023-06-01 | PMID 36797467
Manzoor Humera, Zahid Hafsa, Emerling Christopher A and 5 more
Base editing correction of hypertrophic cardiomyopathy in human cardiomyocytes and humanized mice.
Nature medicine | 2023-02-01 | PMID 36797478
Chai Andreas C, Cui Miao, Chemello Francesco and 10 more
Genes: MYH7
[Molecular genetic characteristics of a family which coinheritance of rare-88 C>G (HBB:c.-138 C>G) β-thalassemia mutation with α-thalassemia and review of the literature].
Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine] | 2023-02-06 | PMID 36797585
Li W, Chen L T, Yu Y and 6 more
Free-Water Imaging of the Substantia Nigra in GBA Pathogenic Variant Carriers.
Movement disorders : official journal of the Movement Disorder Society | 2023-05-01 | PMID 36797645
Zhang Dongling, Shi Yuting, Yao Junye and 7 more
Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndrome.
BMC genomics | 2023-02-16 | PMID 36797672
Hirbo Jibril B, Pasutto Francesca, Gamazon Eric R and 14 more
Genes: LOXL1, ARID3B, CD276, NEO1, SCAMP2, UBL7