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Leukemia Research, ISSN 0145-2126, 08/2019, Volume 83, p. 106177
Acute Lymphoblastic Leukemia (ALL) is a malignancy of the immature lymphoid cells mainly associated with numerical and structural chromosomal aberrations. The... 
B cell Acute Lymphoblastic Leukemia | Array comparative genomic hybridization | Chromosomal Microarray Analysis | Cytogenetic characterization | Risk stratification | ONCOLOGY | PROGNOSIS | KARYOTYPE | HEMATOLOGY | DELETIONS | DIAGNOSTICS
Journal Article
Gynecological Endocrinology, ISSN 0951-3590, 10/2015, Volume 31, Issue sup1, pp. 2 - 5
Chromosomal aberrations in the product of conceptions (POC) are detected in around 50% lost pregnancies. Karyotype analysis of the POC, limited by high failure... 
Chromosomal microarray analysis | comparative genomic hybridization | miscarriages, product of conceptions | miscarriages | product of conceptions | SPONTANEOUS-ABORTIONS | ENDOCRINOLOGY & METABOLISM | OBSTETRICS & GYNECOLOGY
Journal Article
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, ISSN 1090-3798, 11/2013, Volume 17, Issue 6, pp. 589 - 599
Background and objectives: Submicroscopic chromosomal rearrangements are the most common identifiable causes of intellectual disability and autism spectrum... 
Array-CGH | IDIOPATHIC MENTAL-RETARDATION | COMPLEX | RAS | Chromosomal microarray (CMA) | STANDARDS | Dysmorphic features | ETIOLOGIC YIELD | Neurodevelopmental disorders | CONGENITAL-ANOMALIES | Developmental delay | SINGLE-GENE | CHILD | CLINICAL NEUROLOGY | Autism spectrum disorders | Intellectual disability | SON | PEDIATRICS | COMPARATIVE GENOMIC HYBRIDIZATION
Journal Article
International Ophthalmology, ISSN 0165-5701, 9/2019, Volume 39, Issue 9, pp. 2057 - 2067
Duane retraction syndrome (DS) is a rare congenital strabismus with genetic heterogeneity. The genetic causes of DS are not always of monogenic origin; various... 
Duane retraction syndrome | Ophthalmology | Medicine & Public Health | Chromosomal microarray (CMA) | Copy number variation (CNV) | OPHTHALMOLOGY | CHN1 MUTATIONS | Medicine, Experimental | Medical research | Genetic disorders | DNA microarrays | Chromosomes | Analysis | Heterogeneity | High resolution | Strabismus | Duane's syndrome | Copy number | Chromosome 2 | Patients | Chromosome 1
Journal Article
European Journal of Obstetrics & Gynecology and Reproductive Biology, ISSN 0301-2115, 2015, Volume 197, pp. 164 - 167
Journal Article
Journal of Autism and Developmental Disorders, ISSN 0162-3257, 1/2019, Volume 49, Issue 1, pp. 363 - 375
Journal Article
Taiwanese Journal of Obstetrics & Gynecology, ISSN 1028-4559, 03/2019, Volume 58, Issue 2, pp. 251 - 254
To investigate the clinical value of chromosomal microarray analysis (CMA) in the prenatal diagnosis of genetic abnormalities in fetal isolated mild... 
Prenatal diagnosis | Ventriculomegaly | Copy number variations (CNVs) | Chromosomal microarray analysis (CMA) | MICRODUPLICATION | OBSTETRICS & GYNECOLOGY
Journal Article
Journal Article
Journal Article
Methods in Molecular Biology, ISSN 1064-3745, 05/2016, Volume 1368, pp. 111 - 132
Journal Article
Archives of Gynecology and Obstetrics, ISSN 0932-0067, 11/2019, Volume 300, Issue 5, pp. 1221 - 1225
In this study, we aimed to assess the distribution of genetic abnormalities leading to termination of pregnancy and its fluctuation during the past 8 years in... 
Obstetrics/Perinatology/Midwifery | Human Genetics | Medicine & Public Health | Single gene mutation | Chromosomal aberrations | Gynecology | Trend | Termination of pregnancy | Endocrinology | Chromosomal microarray analysis (CMA)
Journal Article