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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
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma | PNAS
PDF) Turner's syndrome and pregnancy: Has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review
Molecular Research Papers - Academia.edu
FISH analysis to confirm duplication. The analysis was performed using... | Download Scientific Diagram
BALCANICA XXXIX - Балканолошки институт САНУ
PDF) Dual testing with QF-PCR and karyotype analysis for prenatal diagnosis of chromosomal abnormalities. Evaluation of 13 500 cases with consideration of using QF-PCR as a stand-alone test according to referral indications
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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
PDF) A Girl with 10 Mb Distal Xp Deletion Arising from Maternal Pericentric Inversion: Clinical Data and Molecular Characterization
Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities | PNAS
Personnel - ATG Genetics Laboratories
Distal 4p microdeletion in a case of Wolf‐Hirschhorn syndrome with congenital diaphragmatic hernia - Casaccia - 2006 - Birth Defects Research Part A: Clinical and Molecular Teratology - Wiley Online Library
F R I D A Y • A P R I L - Pediatric Academic Societies
PDF) Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report
Christian Brothers' High School Lewisham 2020 School Annual by CBHS Lewisham - Issuu
PDF) Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization
Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array‐CGH - Manolakos - 2009 - Prenatal Diagnosis - Wiley Online Library
The fetal karyotype; the arrow shows the duplicated chromosome 1. | Download Scientific Diagram
Split Hand Foot Malformation Syndrome: A Novel Heterozygous FGFR1 Mutation Detected by Next Generation Sequencing. - Abstract - Europe PMC
Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma | PNAS
PDF) ONLINE PROPOSED GRADUATE PROGRAM ON GEOPOLITICS AND RELIGIOUS AND ECUMENICAL RELATIONS The Program | Spyridoula Athanasopoulou-Kypriou - Academia.edu
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 -
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
PDF) Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes
PDF) Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334-kb deletion: A case report
Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma | PNAS
PDF) An Interstitial 4q31.21q31.22 Microdeletion Associated with Developmental Delay: Case Report and Literature Review | Emmanouil Manolakos and Thomas Liehr - Academia.edu