PDF) Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization
Split Hand Foot Malformation Syndrome: A Novel Heterozygous FGFR1 Mutation Detected by Next Generation Sequencing. - Abstract - Europe PMC
Deletion 2q31.2‐q31.3 in a 4‐year‐old girl with microcephaly and severe mental retardation - Manolakos - 2011 - American Journal of Medical Genetics Part A - Wiley Online Library
Applicability of first‐trimester combined screening for fetal trisomy 21 in a resource‐limited setting in mainland China - Li - 2016 - BJOG: An International Journal of Obstetrics & Gynaecology - Wiley Online Library
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
The fetal karyotype; the arrow shows the duplicated chromosome 1. | Download Scientific Diagram
PDF) Parental origin of mutations in sporadic case of Treacher Collins syndrome
Split Hand Foot Malformation Syndrome: A Novel Heterozygous FGFR1 Mutation Detected by Next Generation Sequencing. - Abstract - Europe PMC
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 monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma | PNAS
Walter Cunningham Αδελφός Σαμουήλ papoulidis ioannis mail εργασία για το σπίτι Διαρκής Πλαστικότητα
Annals REPORT ON THE ACTIVITIES OF THE INSTITUTE IN PDF Free Download
Split Hand Foot Malformation Syndrome: A Novel Heterozygous FGFR1 Mutation Detected by Next Generation Sequencing. - Abstract - Europe PMC
PDF) Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report
FISH analysis to confirm duplication. The analysis was performed using... | Download Scientific Diagram
Walter Cunningham Αδελφός Σαμουήλ papoulidis ioannis mail εργασία για το σπίτι Διαρκής Πλαστικότητα
PDF) A Girl with 10 Mb Distal Xp Deletion Arising from Maternal Pericentric Inversion: Clinical Data and Molecular Characterization
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
BALCANICA XXXIX - Балканолошки институт САНУ
F R I D A Y • A P R I L - Pediatric Academic Societies
PDF) Α Case of Triplets Concordant for Schizophrenia: Psychopathological Considerations | George B Mitropoulos - Academia.edu
Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation | PNAS
Split Hand Foot Malformation Syndrome: A Novel Heterozygous FGFR1 Mutation Detected by Next Generation Sequencing. - Abstract - Europe PMC
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