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Pilot study of a novel multi‐functional noninvasive prenatal test on fetus aneuploidy, copy number variation, and single‐gene disorder screening - Luo - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
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PDF) An Interstitial 4q31.21q31.22 Microdeletion Associated with Developmental Delay: Case Report and Literature Review | Emmanouil Manolakos and Thomas Liehr - Academia.edu
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FISH analysis to confirm duplication. The analysis was performed using... | Download Scientific Diagram
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Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma | PNAS
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Routine use of array comparative genomic hybridization (aCGH) as standard approach for prenatal diagnosis of chromosomal abnormalities. Clinical experience of 1763 prenatal cases - Papoulidis - 2015 - Prenatal Diagnosis - Wiley Online Library
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OBM Genetics | Identification of a Small Supernumerary Marker Chromosome Involving 11p14.1q12.1 in a Prenatal Case: Clinical and Molecular Characterization
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Split Hand Foot Malformation Syndrome: A Novel Heterozygous FGFR1 Mutation Detected by Next Generation Sequencing. - Abstract - Europe PMC
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PDF) Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: a case report | Makarios Eleftheriades - Academia.edu
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PDF) Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization
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Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma | PNAS
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PDF) Proximal 10q duplication in a child with severe central hypotonia characterized by array- comparative genomic hybridization: A case report and review of the literature | Orsetta Zuffardi - Academia.edu
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OBM Genetics | Identification of a Small Supernumerary Marker Chromosome Involving 11p14.1q12.1 in a Prenatal Case: Clinical and Molecular Characterization
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The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis - Toomes - 2003 -
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Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array‐CGH - Manolakos - 2009 - Prenatal Diagnosis - Wiley Online Library
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