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Seite 1 für „Translocation“ · Literaturverweise aus öffentlichen Artikeln
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Altered chromatin topologies caused by balanced chromosomal translocation lead to central iris hypoplasia
pubmed · 38871723
Literaturverweis öffnenGenetic analysis of three familial cases of pure terminal 19p13.3 duplication caused by maternal balanced translocation t(19;21) (p13.3;p12)
pubmed · 42306095
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 öffnenClinical analysis of balanced chromosomal translocation with primary infertility in couples
doi · 10.21203/rs.3.rs-2859924/v1
Literaturverweis öffnenCase Report: Severe neonatal lupus in an infant with homozygous NCF1 p.Arg90His variant and a der(14)t(4;14) translocation
pubmed · 42183258
Literaturverweis öffnen11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four-way balanced chromosomal translocation
pubmed · 37475652
Literaturverweis öffnenA case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation
pubmed · 36966012
Literaturverweis öffnenFirst prenatal case of jumping-like translocations: unraveling complex chromosomal rearrangements
pubmed · 40069405
Literaturverweis öffnenPrenatal diagnosis of partial monosomy 8p (8p23.2→pter) and partial trisomy 15q (15q21.2→qter) and incidental detection of a familial chromosome translocation of paternal origin in a pregnancy associated with increased nuchal translucency and an abnormal maternal serum screening result
pubmed · 34247824
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