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Seite 1 für „Genome“ · Literaturverweise aus öffentlichen Artikeln
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Genome-wide CRISPR screens identify CLC-2 as a drug target for anti-herpesvirus therapy: tackling herpesvirus drug resistance
pubmed · 39428427
Literaturverweis öffnenPrenatal-Onset Lethal Adenylosuccinate Lyase Deficiency Diagnosed by Rapid Whole Genome Sequencing: A Case Report
pubmed · 42338846
Literaturverweis öffnenSETting up the genome: KMT2D and KDM6A genomic function in the Kabuki syndrome craniofacial developmental disorder
pubmed · 37800171
Literaturverweis öffnenLocal ancestry-aware genome-wide meta-analysis uncovers novel genetic loci for sickle cell disease nephropathy
doi · 10.64898/2026.05.27.26354213
Literaturverweis öffnenGenome sequencing-based CNV analysis in an infant with concurrent partial trisomies 9p and 12p due to maternal translocation: A case report
pubmed · 42260830
Literaturverweis öffnenGenome sequencing in families with congenital limb malformations
pubmed · 34159400
Literaturverweis öffnenGenome-wide analysis implicates inner ear development in Ménière disease
pubmed · 42302782
Literaturverweis öffnenCentromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing
pubmed · 41881544
Literaturverweis öffnenA large-scale multi-ancestry genome-wide association study of chronic prostatitis/chronic pelvic pain syndrome in men
pubmed · 41513650
Literaturverweis öffnenCOG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report
pubmed · 42306617
Literaturverweis öffnenNPC1 deficiency engages a lysosome–genome–immune program linked to neurodegeneration and cellular aging signatures
doi · 10.64898/2026.07.12.738054
Literaturverweis öffnenMyoepithelioma-like tumor of the vulvar region shows a quiet genome and heterogeneous detectable mechanisms of SMARCB1 inactivation: Integrated analysis of two cases and review of the literature
pubmed · 42391872
Literaturverweis öffnenIncremental yield of genome sequencing after exome sequencing for nonimmune hydrops fetalis spectrum
pubmed · 42471198
Literaturverweis öffnenA genome-wide association study of problematic sexual behaviour: genetic overlap with psychiatric, behavioural and personality phenotypes
doi · 10.64898/2026.05.15.26351052
Literaturverweis öffnenUnderrecognized triploidy and genome-wide uniparental disomy in human blastocysts revealed by a concurrent preimplantation genetic testing approach
pubmed · 42293311
Literaturverweis öffnenCase Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements
pubmed · 40476266
Literaturverweis öffnenGenome-wide gene expression analysis suggests an important role of hypoxia in the pathogenesis of endemic osteochondropathy Kashin-Beck disease
pubmed · 21829570
Literaturverweis öffnenWhole genome-based surveillance for human adenovirus-related diseases in Kobe City, Japan, 2018-2022
pubmed · 40234980
Literaturverweis öffnenA novel classification of small bowel adenocarcinoma based on the hidden genome classifier: a multi-institutional study
pubmed · 42384930
Literaturverweis öffnenAssociation of COA1 with Patellar Tendonitis: A Genome-wide Association Analysis
pubmed · 34081057
Literaturverweis öffnenMultiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
pubmed · 29531354
Literaturverweis öffnenDraft genome sequence of Enterobacter roggenkampii strain MBBL_MP5 isolated from dairy cow with clinical mastitis
pubmed · 42474464
Literaturverweis öffnenPathogenic characterization and genome-wide evolutionary analysis of Bacillus anthracis from a cutaneous anthrax case in Inner Mongolia, China
pubmed · 42265591
Literaturverweis öffnenExome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study
pubmed · 39700446
Literaturverweis öffnenWhole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome
pubmed · 32382505
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