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Molecular Cytogenetics

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Evaluation of three read-depth based copy number variants (CNV) detection tools using whole-exome sequencing data.

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1. CASE REPORT

   X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report

   Alena S. Telepova, Svetlana A. Romanenko, Natalya A. Lemskaya, Yulia V. Maksimova, Asia R. Shorina and Dmitry V. Yudkin

   Published on: 17 November 2017
2. CASE REPORT

   7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype

   Emiy Yokoyama, Dennise Lesley Smith-Pellegrin, Silvia Sánchez, Bertha Molina, Alfredo Rodríguez, Rocío Juárez, Esther Lieberman, Silvia Avila, José Luis Castrillo, Victoria del Castillo and Sara Frías

   Published on: 15 November 2017
3. RESEARCH

   The exon junction complex factor Y14 is dynamic in the nucleus of the beetle Tribolium castaneum during late oogenesis

   Artem M. Kiselev, Irina S. Stepanova, Leonid S. Adonin, Florina M. Batalova, Vladimir N. Parfenov, Dmitry S. Bogolyubov and Olga I. Podgornaya

   Published on: 9 November 2017
4. CASE REPORT

   A case of placental trisomy 18 mosaicism causing a false negative NIPT result

   Jiexia Yang, Yiming Qi, Fangfang Guo, Yaping Hou, Haishan Peng, Dongmei Wang, Haoxin OY and Aihua Yin

   Published on: 27 October 2017
5. CASE REPORT

   Unique amplification of BCR-ABL1 gene fusion in a case of T-cell acute lymphoblastic leukemia

   Rima Koka, Najeebah A. Bade, Edward A. Sausville, Yi Ning and Ying Zou

   Published on: 26 October 2017

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