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Synchronous L1 Retrotransposition Drives Chromosomal Rearrangements in Cancer
pubmed · 41931552
Literaturverweis öffnenThe epidemiology of sex chromosome abnormalities
pubmed · 32506765
Literaturverweis öffnenÜbersicht über Chromosom- und Gendefekte - MSD Manuals
other
Literaturverweis öffnenAltered chromatin topologies caused by balanced chromosomal translocation lead to central iris hypoplasia
pubmed · 38871723
Literaturverweis öffnenComplex mosaic form of trisomy chromosome 18 and monosomy chromosome X in a girl with esophageal atresia and mild developmental delay: Diagnostic and therapeutic challenge and a review of literature
pubmed · 42267868
Literaturverweis öffnenEAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: State of the art 2023
pubmed · 37674303
Literaturverweis öffnen[Atypical cat eye syndrome. Fluorescence in situ hybridization of metaphase chromosomes].
pubmed · 1359403
Literaturverweis öffnenIdentification of chromosomal abnormalities in miscarriages using single-nucleotide polymorphism arrays
pubmed · 42271033
Literaturverweis öffnenChromosomal instability and genomic alterations in cholangiocarcinoma from Northeastern Thailand
pubmed · 40952339
Literaturverweis öffnenIdentification of autosomal and sex chromosome aneuploidies using next generation sequencing
pubmed · 41838401
Literaturverweis öffnen[X chromosome recessively transmitted hydrocephalus with congenital aqueduct stenosis].
pubmed · 3907171
Literaturverweis öffnenRecent advances in the detection technologies for balanced chromosomal rearrangements
pubmed · 41767304
Literaturverweis öffnenStepwise accumulation of chromosomal copy number variations along the gastritis-carcinoma sequence: implications for early risk stratification in gastric cancer
pubmed · 42423291
Literaturverweis öffnenPrenatal diagnosis, genetic analysis, and pregnancy outcomes of fetuses with mosaic isodicentric Y chromosomes
pubmed · 42046074
Literaturverweis öffnenSex Chromosome Tetrasomy and Pentasomy
pubmed · 7567329
Literaturverweis öffnen[X-chromosomal congenital retinoschisis. Clinical aspects and electrophysiology].
pubmed · 2376375
Literaturverweis öffnenX-chromosomal-rezessive Ichthyose (XRI) mit zerebellärer Ataxie, Angsterkrankung und Depression
pubmed · 23340970
Literaturverweis öffnenComplex chromosomal rearrangements induce embryonic chromosomal imbalance and significantly compromise reproductive outcomes
pubmed · 42249430
Literaturverweis öffnenThe Extra X Chromosome and Autoimmune Susceptibility in Klinefelter Syndrome
pubmed · 42400286
Literaturverweis öffnenChromosomal Instability: A Potential Biomarker of Radiation Response
pubmed · 42365986
Literaturverweis öffnenChromosomal abnormalities and pregnancy outcomes in 350 pregnancies with prenatally diagnosed aberrant right subclavian artery: a phenotype-based retrospective cohort study
pubmed · 42219360
Literaturverweis öffnenIdentification of Complex Chromosomal Rearrangement Involving Chromosomes 10, 18, and 19 in a Family Undergoing Prenatal Diagnosis: Case Report
pubmed · 42382047
Literaturverweis öffnenChromosomal abnormalities and copy number variations in fetuses with ventriculomegaly: a multicenter retrospective study
pubmed · 42204614
Literaturverweis öffnenExamining the Role of a Chromosomal Inversion in Accumulating Adaptive and Barrier Loci in a Cold-adapted Insect Species
pubmed · 41992736
Literaturverweis öffnenChromosomal Microarray Analysis Compared With Noninvasive Prenatal Testing in Pregnancies With Abnormal Maternal Serum Screening
pubmed · 35576346
Literaturverweis öffnenCentromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing
pubmed · 41881544
Literaturverweis öffnenClinical analysis of balanced chromosomal translocation with primary infertility in couples
doi · 10.21203/rs.3.rs-2859924/v1
Literaturverweis öffnenBalanced chromosomal rearrangements and carrier status detection: the slippery slope of the quest for perfection
pubmed · 40436244
Literaturverweis öffnen