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Fetal and Pediatric Pathology|October 15, 2019
A Novel ATRX Mutation Presenting with Intellectual Disability and Severe KyphoscoliosisŞule Altıner, Lucy RaymondMolecular Syndromology|November 23, 2020
Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of NRXN3 and NEDD4L DeletionsAlper Han Çebi, Şule AltınerAmerican Journal of Medical Genetics. Part A|March 25, 2021
MASP1-related 3MC syndrome in a patient from TurkeyCeren Damla Durmaz, Şule AltınerMolecular Cytogenetics|June 1, 2019
Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardationŞule Altıner, Nüket Yürür KutlayCytogenetic and Genome Research|October 31, 2025
Coexistence of Mosaic Marker Chromosome and Isodisomy 1 in Reproductive Failure: A Cytogenomic Case Report and Review of the LiteratureSadiye Ekinci, Ekin Aydın, Şule AltınerCytogenetic and Genome Research|November 14, 2016
Constitutional Trisomy 8 Mosaicism with Persistent MacrocytosisŞule Altıner, Nüket Y Kutlay, Osman İlhanMolecular Syndromology|April 8, 2020
Extending the Phenotypic Spectrum of Huntington Disease: HypothermiaŞule Altıner, Senol Ardic, Alper H ÇebiCytogenetic and Genome Research|March 2, 2023
A Paternal "Balanced" Chromosome 2 and 4 Translocation with Chromosome 21q Insertion Leading to Duplication of 2q22.1q24.1 in Two SiblingsMustafa Gökoğlu, Nüket Yürür Kutlay, Şule AltınerCytogenetic and Genome Research|October 29, 2019
Cytogenetic, Molecular, and Phenotypic Characterization of a Patient with de novo Derivative Chromosome 18 and Review of the LiteratureEzgi Gökpınar İli, Şule Altıner, Halil G KarabulutCytogenetic and Genome Research|January 27, 2020
Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous UlcerŞule Altıner, Nüket Yürür Kutlay, Hatice Ilgın RuhiPageof 2