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Severe neonatal presentation of Xp21 contiguous gene deletion: adrenal crisis and neuromuscular involvement. [PDF]
Acta MyolStanković S +4 more
europepmc +1 more source
Do all patients with chronic phase CML require a diagnostic bone marrow biopsy in the modern TKI era? [PDF]
Blood NeoplasiaFong NFT +4 more
europepmc +1 more source
Clinical Utility of Optical Genome Mapping as an Additional Tool in a Standard Cytogenetic Workup in Hematological Malignancies. [PDF]
Cancers (Basel)Toruner GA +8 more
europepmc +1 more source
Evaluating reproduction‐related behaviour and performance problems in mares
Equine Veterinary Education, EarlyView.
S. McDonnell
wiley +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 ...
R R, Schreck, C, Distèche
openaire +2 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 ...
R R, Schreck, C, Distèche
openaire +2 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
Chromosoma, 1971
A denaturating and renaturating technique, applied to mouse chromosomes, makes visible characteristic banding patterns by which all elements of the karyotype can be individually distinguished. The Y chromosome as a whole appears darkly stained. The X chromosome comprises 6.33% of the homogametic haploid set.
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A denaturating and renaturating technique, applied to mouse chromosomes, makes visible characteristic banding patterns by which all elements of the karyotype can be individually distinguished. The Y chromosome as a whole appears darkly stained. The X chromosome comprises 6.33% of the homogametic haploid set.
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
openaire +3 more sources