Fatih Z Boyar


Ontology type: schema:Person     


Person Info

NAME

Fatih Z

SURNAME

Boyar

Publications in SciGraph latest 50 shown

  • 2017-12 CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1 in MOLECULAR CYTOGENETICS
  • 2016-12 Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis in MOLECULAR CYTOGENETICS
  • 2016-12 Chromosomal microarray analysis as the first-tier test for the identification of pathogenic copy number variants in chromosome 9 pericentric regions and its challenge in MOLECULAR CYTOGENETICS
  • 2015-05 Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-12 Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay in MOLECULAR CYTOGENETICS
  • 2014-12 Submicroscopic deletion of 5q involving tumor suppressor genes (CTNNA1, HSPA9) and copy neutral loss of heterozygosity associated with TET2 and EZH2 mutations in a case of MDS with normal chromosome and FISH results in MOLECULAR CYTOGENETICS
  • 2014-12 Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster in MOLECULAR CYTOGENETICS
  • 2014-12 Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory in MOLECULAR CYTOGENETICS
  • 2014-01 Identification and clinical evaluation of segments of homozygosity, uniparental disomy and complex chromosomal abnormalities revealed by copy-number SNP arrays in MOLECULAR CYTOGENETICS
  • 2013-12 Isochromosome Yp and jumping translocation of Yq resulting in five cell lines in an infertile male: a case report and review of the literature in MOLECULAR CYTOGENETICS
  • 2013-12 Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review in MOLECULAR CYTOGENETICS
  • 2012-12 Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory in MOLECULAR CYTOGENETICS
  • 2012-12 Neocentric X-chromosome in a girl with Turner-like syndrome in MOLECULAR CYTOGENETICS
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