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Seite 1 für „Sequencing“ · Literaturverweise aus öffentlichen Artikeln
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Prenatal-Onset Lethal Adenylosuccinate Lyase Deficiency Diagnosed by Rapid Whole Genome Sequencing: A Case Report
pubmed · 42338846
Literaturverweis öffnenTargeted next-generation sequencing to diagnose drug-resistant tuberculosis: a systematic review and meta-analysis
pubmed · 38795712
Literaturverweis öffnenIdentification of autosomal and sex chromosome aneuploidies using next generation sequencing
pubmed · 41838401
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 öffnenThe added value of whole-exome sequencing for fetuses with postural defects by prenatal ultrasound
pubmed · 42423164
Literaturverweis öffnenDiagnostic Delay, Metagenomic Next-Generation Sequencing and Survival Outcomes in Balamuthia mandrillaris Granulomatous Amoebic Encephalitis: A Systematic Review of Global Case Reports
doi · 10.20944/preprints202606.1579.v1
Literaturverweis öffnenGenome sequencing in families with congenital limb malformations
pubmed · 34159400
Literaturverweis öffnenPhenotype-Driven Whole-Exome Sequencing Reanalysis Identifies a Homozygous PPP2R3C Variant in Syndromic 46,XY and 46,XX Gonadal Dysgenesis: Case Report and Review of the Literature
pubmed · 42445464
Literaturverweis öffnenCentromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing
pubmed · 41881544
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 öffnenMolecular evidence of neuroinvasive Sindbis virus infection in humans: detection in cerebrospinal fluid by next generation sequencing
pubmed · 42434987
Literaturverweis öffnenComparative assessment of line probe assays and targeted next-generation sequencing in drug-resistant tuberculosis diagnosis
pubmed · 40763426
Literaturverweis öffnenIncremental yield of genome sequencing after exome sequencing for nonimmune hydrops fetalis spectrum
pubmed · 42471198
Literaturverweis öffnenCase Report: Deciphering a de novo complex chromosomal rearrangement causing premature ovarian insufficiency, short stature, and mild intellectual disability using long-read sequencing
pubmed · 42338980
Literaturverweis öffnenNext-Generation Sequencing-Based Diagnosis of Unexplained Inherited Hemolytic Anemias Reveals Wide Genetic and Phenotypic Heterogeneity
pubmed · 32036089
Literaturverweis öffnenDiagnostic yield of chromosomal microarray analysis and exome sequencing in fetuses with central nervous system anomalies, with long-term follow-up: a single-center study over a 17-year period
pubmed · 42230359
Literaturverweis öffnenClinical features of Q fever confirmed by plasma metagenomic next-generation sequencing
pubmed · 42488664
Literaturverweis öffnenMyxoid Lipoblastoma with New Fusion Transcript CHCHD7::PLAG1 in an 18-Month-Old Girl Diagnosed by Target RNA Sequencing: A Case Report
pubmed · 42196292
Literaturverweis öffnenExome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype-Specific Analysis
pubmed · 41714291
Literaturverweis öffnenTiming of Bronchoscopy and Plasma Microbial Cell-Free DNA Sequencing in Immunocompromised Host Pneumonia
pubmed · 42325651
Literaturverweis öffnenAccurate Detection of Multiple Chromosome Rearrangements and Copy Number Variations by PacBio Sequencing in Complex Chromosomal Abnormality
pubmed · 41936057
Literaturverweis öffnenHybrid Sequencing Characterization of Complex Chromosomal Rearrangements
pubmed · 40884642
Literaturverweis öffnenFollicular Lymphoma: Novel Therapies and Strategies for Optimal Therapeutic Sequencing.
pubmed · 42527721
Literaturverweis öffnenIdentification of a potential novel Staphylococcus species via genomic sequencing: A neonatal infection case report
pubmed · 42283067
Literaturverweis öffnenUtility of prenatal trio whole-exome sequencing and methylation-specific multiplex ligation-dependent probe amplification in the evaluation of fetal growth restriction
pubmed · 42328570
Literaturverweis öffnenTargeted next-generation sequencing for drug-resistant tuberculosis diagnosis: implementation considerations for bacterial load, regimen selection and diagnostic algorithm placement
pubmed · 41192929
Literaturverweis öffnenEnhancing ascitic fungal infection diagnosis through next-generation sequencing: a pilot study in surgical ICU patients
pubmed · 39554813
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