4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions - Bi - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
Genetic Clinics
A large data resource of genomic copy number variation across neurodevelopmental disorders | npj Genomic Medicine
Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism | Molecular Cytogenetics | Full Text
A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings [PeerJ]
PDF] Investigations into the pathogenesis of essential thrombocythemia. | Semantic Scholar
PDF] Investigations into the pathogenesis of essential thrombocythemia. | Semantic Scholar
Schematic representation of the 14q32.3 (IGH locus) and 4p16.3 regions.... | Download Scientific Diagram
Genetic Clinics
Effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray on detection of copy number variants and uniparental disomy in prenatal diagnosis: Results from 5026 pregnancies - Wang - 2019 -
Clinical presentation of the three patients with the chromosomes 4p16... | Download Table
Microdeletion and Microduplication Syndromes - Anja Weise, Kristin Mrasek, Elisabeth Klein, Milene Mulatinho, Juan C. Llerena, David Hardekopf, Sona Pekova, Samarth Bhatt, Nadezda Kosyakova, Thomas Liehr, 2012
Clinical presentation of the three patients with the chromosomes 4p16... | Download Table
GeNeViSTA Microdeletion and Microduplication Syndromes: An Update
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association | Circulation
4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions - Bi - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
Human 660w‐Quad SNP array results of 1q21.1 duplication in the proband.... | Download Scientific Diagram
Doriana Misceo's research works | Oslo University Hospital, Oslo and other places
Integrative Genomic and Transcriptomic Analysis Identified Candidate Genes Implicated in the Pathogenesis of Hepatosplenic T-Cell Lymphoma | PLOS ONE
Genetic Clinics
Oculofacial Manifestations of Chromosomal Aberrations | Ento Key