OBM Genetics | Identification of a Small Supernumerary Marker Chromosome Involving 11p14.1q12.1 in a Prenatal Case: Clinical and Molecular Characterization
Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array‐CGH - Manolakos - 2009 - Prenatal Diagnosis - Wiley Online Library
PDF) A Girl with 10 Mb Distal Xp Deletion Arising from Maternal Pericentric Inversion: Clinical Data and Molecular Characterization
FISH analysis to confirm duplication. The analysis was performed using... | Download Scientific Diagram
PDF) Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization
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PDF) Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes
PDF) Turner's syndrome and pregnancy: Has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review
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 -
Split Hand Foot Malformation Syndrome: A Novel Heterozygous FGFR1 Mutation Detected by Next Generation Sequencing. - Abstract - Europe PMC
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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
Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities | PNAS
Christian Brothers' High School Lewisham 2020 School Annual by CBHS Lewisham - Issuu
The fetal karyotype; the arrow shows the duplicated chromosome 1. | Download Scientific Diagram
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) Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report
Split Hand Foot Malformation Syndrome: A Novel Heterozygous FGFR1 Mutation Detected by Next Generation Sequencing. - Abstract - Europe PMC
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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OBM Genetics | Identification of a Small Supernumerary Marker Chromosome Involving 11p14.1q12.1 in a Prenatal Case: Clinical and Molecular Characterization
PDF) Non-trophoblastic tumor of the placenta with combined histologic features of chorangioma and leiomyoma | Dimosthenis Miliaras, Ioannis Papoulidis, and Xeni Miliara - Academia.edu
PDF) An Interstitial 4q31.21q31.22 Microdeletion Associated with Developmental Delay: Case Report and Literature Review | Emmanouil Manolakos and Thomas Liehr - Academia.edu
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
