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Seite 1 für „Exom“ · Literaturverweise aus öffentlichen Artikeln
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The added value of whole-exome sequencing for fetuses with postural defects by prenatal ultrasound
pubmed · 42423164
Literaturverweis öffnen[Exomphalos-macroglossia-gigantism syndrome].
pubmed · 5017807
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 öffnenIncremental yield of genome sequencing after exome sequencing for nonimmune hydrops fetalis spectrum
pubmed · 42471198
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 öffnenExome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype-Specific Analysis
pubmed · 41714291
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 öffnenMale pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole-exome sequencing
pubmed · 33363845
Literaturverweis öffnenExome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study
pubmed · 39700446
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