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Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion JOURNAL ARTICLE published December 2019 in Molecular Cytogenetics |
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Reviewer acknowledgement 2014 JOURNAL ARTICLE published 2014 in Molecular Cytogenetics |
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Application of Chromosomal Microarray and Multiplex Ligation-dependent Probe Amplification in prenatal diagnosis JOURNAL ARTICLE published 2014 in Molecular Cytogenetics |
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Genomic packaging and epigenetic regulation of genes JOURNAL ARTICLE published 2014 in Molecular Cytogenetics |
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Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples JOURNAL ARTICLE published December 2019 in Molecular Cytogenetics |
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De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features JOURNAL ARTICLE published 2013 in Molecular Cytogenetics |
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Point of care testing for improving risk- benefit ratio of aspirin and warfarin JOURNAL ARTICLE published 2014 in Molecular Cytogenetics |
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Diagnostic utility of novel combined arrays for genome-wide simultaneous detection of aneuploidy and uniparental isodisomy in losses of pregnancy JOURNAL ARTICLE published 2014 in Molecular Cytogenetics |
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Molecular analysis of mucopolysaccharidoses: identification and characterization of pathogenic mutations in Indian population JOURNAL ARTICLE published 2014 in Molecular Cytogenetics |
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The ancestral chromosomes of Dromiciops gliroides (Microbiotheridae), and its bearings on the karyotypic evolution of American marsupials JOURNAL ARTICLE published December 2016 in Molecular Cytogenetics Research funded by Comisión Nacional de Investigación Científica y Tecnológica (Fondecyt 3160328,Fondecyt 1070217) |
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Role of TNF α in the etiopathogenesis of PCOS: a clinical, biochemical and molecular genetic study JOURNAL ARTICLE published 2014 in Molecular Cytogenetics |
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A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability JOURNAL ARTICLE published December 2016 in Molecular Cytogenetics |
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Clinical and molecular evaluations of siblings with “pure” 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3) JOURNAL ARTICLE published December 2014 in Molecular Cytogenetics |
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CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NFIA genes JOURNAL ARTICLE published December 2016 in Molecular Cytogenetics |
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Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region JOURNAL ARTICLE published 2012 in Molecular Cytogenetics |
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A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum JOURNAL ARTICLE published 2011 in Molecular Cytogenetics |
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Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect JOURNAL ARTICLE published 2011 in Molecular Cytogenetics |
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Correction to: CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NFIA genes JOURNAL ARTICLE published December 2021 in Molecular Cytogenetics |
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Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype JOURNAL ARTICLE published 3 November 2022 in Molecular Cytogenetics |
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Role of betel quid in changing oral pathology JOURNAL ARTICLE published 2014 in Molecular Cytogenetics |