Results 201 to 210 of about 158,705 (243)
Comprehensive chromosomal abnormality detection: integrating CNV-Seq with traditional karyotyping in prenatal diagnostics. [PDF]
BMC Med GenomicsHuang Y +5 more
europepmc +1 more source
Cell line authentication using optical genome mapping. [PDF]
BMC GenomicsChialastri A +4 more
europepmc +1 more source
Diagnostic value of cardiac magnetic resonance imaging during transition care in adolescents with Turner syndrome. [PDF]
Front PediatrWięcek M +8 more
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A Phase 1b/2 Study of TP-0903 and Decitabine Targeting Mutant TP53 and/or Complex Karyotype in Patients with Untreated Acute Myeloid Leukemia ≥Age 60 Years. [PDF]
Cancer Res CommunEisenmann ED +27 more
europepmc +1 more source
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Current Protocols in Human Genetics, 1998
AbstractRelevant portions of the new International System for Human Cytogenetic Nomenclature (ISCN 1995) have been reproduced in this appendix (with permission from Karger, the original publisher). The new rules supersede all previous rules and include guidelines for cancer cytogenetics as well as new recommendations for nomenclature when in situ ...
Christine M. Disteche, Rhona Schreck
openaire +3 more sources
AbstractRelevant portions of the new International System for Human Cytogenetic Nomenclature (ISCN 1995) have been reproduced in this appendix (with permission from Karger, the original publisher). The new rules supersede all previous rules and include guidelines for cancer cytogenetics as well as new recommendations for nomenclature when in situ ...
Christine M. Disteche, Rhona Schreck
openaire +3 more sources
Nature Protocols, 2007
Detection of copy number variation in the human genome is important for identifying naturally occurring copy number polymorphisms as well as alterations that underlie various human diseases, including cancer. Digital karyotyping uses short sequence tags derived from specific genomic loci to provide a quantitative and high-resolution view of copy number
Rebecca J, Leary +3 more
openaire +2 more sources
Detection of copy number variation in the human genome is important for identifying naturally occurring copy number polymorphisms as well as alterations that underlie various human diseases, including cancer. Digital karyotyping uses short sequence tags derived from specific genomic loci to provide a quantitative and high-resolution view of copy number
Rebecca J, Leary +3 more
openaire +2 more sources
The karyotype of blastic crisis
Cancer Genetics and Cytogenetics, 1987The nonrandomness of chromosome clonal evolution in blastic crisis of chronic myeloid leukemia is well established, with three major changes [+8, +Ph, i(17q)] occurring alone or in combination in over 70% of the patients. The chromosome changes observed in different tissues may reveal the origin of the abnormal clones, as well as provide evidence for ...
ALIMENA, Giuliana +4 more
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Embryonic karyotype in recurrent miscarriage with parental karyotypic aberrations
Fertility and Sterility, 2006To assesses chromosomal aberrations in the abortus in recurrent miscarriage, in the presence of parental chromosomal aberrations.Retrospective comparative cohort study.Tertiary referral unit in university hospital.One thousand one hundred eight patients with 3-16 miscarriages before 20 weeks gestation; 113 patients with and 995 without chromosomal ...
Eyal Schiff +5 more
openaire +3 more sources