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  1. Content type: Case Report

    Chromosome 6q duplication syndrome is a chromosome abnormality associated with characteristic phenotypic features such as intellectual disability (ID), short stature, feeding difficulties, microcephaly, dysmor...

    Authors: Malgorzata I. Srebniak, Laura J. C. M. van Zutven, Florence Petit, Sonia Bouquillon, Ilse P. J. van Heel, Maarten F. C. M. Knapen, Jerome M. J. Cornette, Andreas Kremer, Diane Van Opstal and Karin E. M. Diderich

    Citation: Molecular Cytogenetics 2016 9:43

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  2. Content type: Letter to Editor

    Detection of small supernumerary marker chromosomes in karyotype analysis represents a diagnostic challenge. While such markers are usually detected during cytogenetic studies of constitutional chromosome abno...

    Authors: Laura Morsberger, Kerry Powell and Yi Ning

    Citation: Molecular Cytogenetics 2016 9:42

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  3. Content type: Case Report

    Microdeletions at 17q11.2 often encompass NF1 gene, is the cause for NF1 microdeletion syndrome. Microdeletion at 17q11.2 without the involvement of NF1 gene is rarely reported.

    Authors: Bobo Xie, Xin Fan, Yaqin Lei, Rongyu Chen, Jin Wang, Chunyun Fu, Shang Yi, Jingsi Luo, Shujie Zhang, Qi Yang, Shaoke Chen and Yiping Shen

    Citation: Molecular Cytogenetics 2016 9:41

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  4. Content type: Case Report

    Structural rearrangements of chromosome 19p13.3 are a rare condition, and their phenotypic consequences remain not well defined, because of the variability of clinical manifestations. Increasing knowledge of n...

    Authors: Pietro Palumbo, Orazio Palumbo, Maria Pia Leone, Raffaella Stallone, Teresa Palladino, Leopoldo Zelante and Massimo Carella

    Citation: Molecular Cytogenetics 2016 9:40

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  5. Content type: Case report

    Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome involving 11q terminal deletion. Interstitial deletions at distal 11q are rare and their contributions to the clinical phenotype of JBS are unknown.

    Authors: Jiasun Su, Rongyu Chen, Jingsi Luo, Xin Fan, Chunyun Fu, Jin Wang, Sheng He, Xuyun Hu, ShuJie Zhang, Shang Yi, Shaoke Chen and Yiping Shen

    Citation: Molecular Cytogenetics 2016 9:39

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  6. Content type: Case report

    Killian-Pallister syndrome (KPS) is a rare form of chromosomal mosaicism and is defined by the existence of an extra chromosome 12 in some cell lines in one individual. The degree of mosaicism varies among tis...

    Authors: Elena Sukarova-Angelovska, Mirjana Kocova, Gordana Ilieva, Natalija Angelkova and Elena Kochova

    Citation: Molecular Cytogenetics 2016 9:38

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  7. Content type: Case Report

    Angelman syndrome (AS) is a neurodevelopmental disorder. AS patients concomitant with sSMC are rather rare events. It will provide more useful and proper information for genetic counseling to identify the sSMC...

    Authors: Yu-an Hu, Yingxia Cui, Xiaobo Fan, Qiuyue WU, Weiwei Li and Weiping Wang

    Citation: Molecular Cytogenetics 2016 9:37

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  8. Content type: Research

    Trematodes have a complex life cycle with animal host changes and alternation of parthenogenetic and hermaphrodite generations. The parthenogenetic generation of the worm (rediae) from the first intermediate h...

    Authors: Anna I. Solovyeva, Vera N. Stefanova, Olga I. Podgornaya and Serghei Iu. Demin

    Citation: Molecular Cytogenetics 2016 9:34

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  9. Content type: Research

    One fundamental finding of the last decade is that, besides the primary DNA sequence information there are several epigenetic “information-layers” like DNA-and histone modifications, chromatin packaging and, l...

    Authors: Anja Weise, Samarth Bhatt, Katja Piaszinski, Nadezda Kosyakova, Xiaobo Fan, Annelore Altendorf-Hofmann, Alongklod Tanomtong, Arunrat Chaveerach, Marcelo Bello de Cioffi, Edivaldo de Oliveira, Joachim-U. Walther, Thomas Liehr and Jyoti P. Chaudhuri

    Citation: Molecular Cytogenetics 2016 9:36

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  10. Content type: Research

    The centromere is the specialized locus required for correct chromosome segregation during cell division. The DNA of most eukaryotic centromeres is composed of extended arrays of tandem repeats (satellite DNA)...

    Authors: Federico Cerutti, Riccardo Gamba, Alice Mazzagatti, Francesca M. Piras, Eleonora Cappelletti, Elisa Belloni, Solomon G. Nergadze, Elena Raimondi and Elena Giulotto

    Citation: Molecular Cytogenetics 2016 9:35

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  11. Content type: Research

    Karyotyping is the gold standard cytogenetic method for detection of ring chromosomes. In this study we report the molecular characterization of a novel ring 6 (r6) chromosome in a six-year-old girl with sever...

    Authors: Rui Zhang, Xuan Chen, Peiling Li, Xiumin Lu, Yu Liu, Yan Li, Liang Zhang, Mengnan Xu and David S. Cram

    Citation: Molecular Cytogenetics 2016 9:33

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  12. Content type: Research

    Chromosomal abnormalities that result in genomic imbalances are main causes of congenital and developmental anomalies including intellectual disability and multiple congenital malformations. In this report we ...

    Authors: Hong Yan Liu, Jia Huang, Tao Li, Dong Wu, Hong Dan Wang, Yue Wang, Tao Wang, Liang Jie Guo, Qian Nan Guo, Fei Fei Huang, Rui Li Wang and Ying Tai Wang

    Citation: Molecular Cytogenetics 2016 9:31

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  13. Content type: Research

    GSTM1 gene deletion is one of the most known copy number polymorphisms in human genome. It is most likely caused by homologous recombination between the repeats flanking the gene. Howe...

    Authors: Andrey V. Khrunin, Irina N. Filippova, Aydar M. Aliev, Tat’yana V. Tupitsina, Petr A. Slominsky and Svetlana A. Limborska

    Citation: Molecular Cytogenetics 2016 9:30

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  14. Content type: Research

    The use of Microarray (array CGH) analysis has become a widely accepted front-line test replacing G banded chromosome studies for patients with an unexplained phenotype. We detail our findings of over 5300 cases.

    Authors: Adrian Mc Cormack, Karen Claxton, Fern Ashton, Philip Asquith, Edward Atack, Roberto Mazzaschi, Paula Moverley, Rachel O’Connor, Methat Qorri, Karen Sheath, Donald R. Love and Alice M. George

    Citation: Molecular Cytogenetics 2016 9:29

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  15. Content type: Research

    Dissecting genome organization is indispensable for further functional and applied studies. As genome sequences data shown, cotton genomes contain more than 60 % repetitive sequences, so study on repetitive se...

    Authors: Yuling Liu, Renhai Peng, Fang Liu, Xingxing Wang, Xinglei Cui, Zhongli Zhou, Chunying Wang, Xiaoyan Cai, Yuhong Wang, Zhongxu Lin and Kunbo Wang

    Citation: Molecular Cytogenetics 2016 9:27

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  16. Content type: Research

    Loss of expression of imprinted genes in the 15q11.2-q13 region is known to cause either Prader-Willi syndrome (PWS) or Angelman syndrome (AS), depending on the parent of origin. In some patients (1 % in PWS a...

    Authors: Umut Aypar, Nicole L. Hoppman, Erik C. Thorland and D. Brian Dawson

    Citation: Molecular Cytogenetics 2016 9:26

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  17. Content type: Research

    Single embryo transfer (SET) has been utilized as a strategy to reduce the chance of multifetal gestations in in vitro fertilization (IVF) but lower pregnancy rate remains a concern. Recent studies showed that...

    Authors: Gwo-Chin Ma, Hsin-Fu Chen, Yu-Shih Yang, Wen-Hsiang Lin, Feng-Po Tsai, Chi-Fang Lin, Chi Chiu and Ming Chen

    Citation: Molecular Cytogenetics 2016 9:25

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  18. Content type: Research

    While chromosome 1 is the largest chromosome in the human genome, less than two dozen cases of interstitial microdeletions in the short arm have been documented. More than half of the 1p microdeletion cases we...

    Authors: Jonathan D. J. Labonne, Yiping Shen, Il-Keun Kong, Michael P. Diamond, Lawrence C. Layman and Hyung-Goo Kim

    Citation: Molecular Cytogenetics 2016 9:24

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  19. Content type: Case Report

    Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy. Based on literature reports of limited cases, over 50 % of BPDCN have chromosomal abnormalities, but no single chromosomal...

    Authors: Zhenya Tang, Guilin Tang, Sa A. Wang, Xinyan Lu, Ken H. Young, Carlos E. Bueso-Ramos, Yesid Alvarado, L. Jeffrey Medeiros and Joseph D. Khoury

    Citation: Molecular Cytogenetics 2016 9:23

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  20. Content type: Case Report

    Kleefstra syndrome is a rare genetic disorder, with core phenotypic features encompassing developmental delay/intellectual disability, characteristic facial features – brachy(micro)cephaly, unusual shaped eyeb...

    Authors: Kinga Hadzsiev, Katalin Komlosi, Marta Czako, Balazs Duga, Renata Szalai, Andras Szabo, Etelka Postyeni, Titanilla Szabo, Gyorgy Kosztolanyi and Bela Melegh

    Citation: Molecular Cytogenetics 2016 9:22

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  21. Content type: Research

    Partial deletion of chromosome 21q is a very rare chromosomal abnormality associated with highly variable phenotypes, such as facial dysmorphic features, heart defects, seizures, psychomotor delay, and severe ...

    Authors: Edoardo Errichiello, Francesca Novara, Anna Cremante, Annapia Verri, Jessica Galli, Elisa Fazzi, Daniela Bellotti, Laura Losa, Mariangela Cisternino and Orsetta Zuffardi

    Citation: Molecular Cytogenetics 2016 9:21

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  22. Content type: Research

    Wilms tumor (WT) has a not completely elucidated pathogenesis. DNA copy number alterations (CNAs) are common in cancer, and often define key pathogenic events. The aim of this work was to investigate CNAs in o...

    Authors: A. C. V. Krepischi, M. Maschietto, E. N. Ferreira, A. G. Silva, S. S. Costa, I. W. da Cunha, B. D. F. Barros, P. E. Grundy, C. Rosenberg and D. M. Carraro

    Citation: Molecular Cytogenetics 2016 9:20

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  23. Content type: Case Report

    Van der Woude syndrome (MIM: 119300, VWS) is a dominantly inherited and the most common orofacial clefting syndrome; it accounts for ~2 % of all cleft lip and palate cases. Intellectual disability (ID) is char...

    Authors: Martina Rincic, Milan Rados, Zeljka Krsnik, Kristina Gotovac, Fran Borovecki, Thomas Liehr and Lukrecija Brecevic

    Citation: Molecular Cytogenetics 2016 9:19

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  24. Content type: Case Report

    Ring chromosome 18 [r(18)] syndrome represents a relatively rare condition with a complex clinical picture including multiple congenital dysmorphia and varying degrees of mental retardation. The condition is c...

    Authors: Anna Zlotina, Tatiana Nikulina, Natalia Yany, Olga Moiseeva, Tatiana Pervunina, Eugeny Grekhov and Anna Kostareva

    Citation: Molecular Cytogenetics 2016 9:18

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  25. Content type: Research

    The question what makes Homo sapiens sapiens (HSA) special among other species is one of the basic questions of mankind. A small contribution to answer this question is to study the chromosomal constitution of HS...

    Authors: Wiwat Sangpakdee, Alongklod Tanomtong, Xiaobo Fan, Krit Pinthong, Anja Weise and Thomas Liehr

    Citation: Molecular Cytogenetics 2016 9:17

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  26. Content type: Research

    Idiopathic short stature (ISS) refers to short stature with no evident etiologies. The custom genome-wide microarray specifically designed to cover height-related genes may be helpful to detect copy number var...

    Authors: Guorui Hu, Yanjie Fan, Lili Wang, Ru-en Yao, Xiaodong Huang, Yiping Shen, Yongguo Yu and Xuefan Gu

    Citation: Molecular Cytogenetics 2016 9:16

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  27. Content type: Reviewer acknowledgement

    The Editors of Molecular Cytogenetics would like to thank all our reviewers who have contributed to the journal in volume 8 (2015).

    Authors: Thomas Liehr, Henry Heng, Yuri Yurov, Aurelia Meloni-Ehrig and Ivan Iourov

    Citation: Molecular Cytogenetics 2016 9:14

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  28. Content type: Short report

    Diffuse astrocytomas are characterized by their highly variable biological behavior. The possibility that tumors develop novel aberrations, with relevant biological properties, is often neglected. In this stud...

    Authors: Halka Lhotska, Zuzana Zemanova, Hana Cechova, Sarka Ransdorfova, Karla Svobodova, Filip Kramar, Zdenek Krejcik and Kyra Michalova

    Citation: Molecular Cytogenetics 2016 9:13

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  29. Content type: Hypothesis

    Longer telomeres in the somatic cells of an individual have been regarded as a marker of youth and biological fitness within a population. Yet, several research groups have reported the surprising findings of ...

    Authors: Reinhard Stindl

    Citation: Molecular Cytogenetics 2016 9:12

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  30. Content type: Case Report

    IInterstitial 21q deletions can cause a wide spectrum of symptoms depending on the size and the location of the deletion. It has previously been suggested that the long arm of chromosome 21 can be divided into...

    Authors: Cathrine Jespersgaard, Ida N. Damgaard, Nanna Cornelius, Iben Bache, Niels Knabe, Maria J. Miranda and Zeynep Tümer

    Citation: Molecular Cytogenetics 2016 9:11

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  31. Content type: Research

    Non-progressive cerebellar ataxia with mental retardation (CANPMR, OMIM 614756) and chromosome 1p32-p31 deletion syndrome (OMIM 613735) are two very rare inherited disorders, which are caused by mono-allelic d...

    Authors: Emanuele G. Coci, Udo Koehler, Thomas Liehr, Armin Stelzner, Christian Fink, Hendrik Langen and Joachim Riedel

    Citation: Molecular Cytogenetics 2016 9:10

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  32. Content type: Research

    Men with 47, XYY syndrome are presented with varying physical attributes and degrees of infertility. Little information has been documented regarding the meiotic progression in patients with extra Y chromosome...

    Authors: Caiyun Wu, Liu Wang, Furhan Iqbal, Xiaohua Jiang, Ihtisham Bukhari, Tonghang Guo, Gengxin Yin, Howard J. Cooke, Zhenyi Cao, Hong Jiang and Qinghua Shi

    Citation: Molecular Cytogenetics 2016 9:9

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  33. Content type: Review

    Mosaicism for chromosomal structural rearrangements (Rea) is rare and the timing and mechanisms of mosaic Rea formation, maintenance, and clinical manifestation are poorly understood. To date, there are no pub...

    Authors: Natalia V. Kovaleva and Philip D. Cotter

    Citation: Molecular Cytogenetics 2016 9:8

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  34. Content type: Research

    About 10 –15 % of all clinically recognized pregnancies result in spontaneous miscarriages, and chromosomal abnormalities are the most common reason. The conventional karyotyping on chorionic villus samples (C...

    Authors: Jiandong Shen, Wei Wu, Chao Gao, Humphrey Ochin, Dianyun Qu, Jiazi Xie, Li Gao, Yadong Zhou, Yugui Cui and Jiayin Liu

    Citation: Molecular Cytogenetics 2016 9:7

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  35. Content type: Research

    The uncultivated species Dasypyrum breviaristatum carries novel diseases resistance and agronomically important genes of potential use for wheat improvement. The development of new wheat-D. breviaristatum derivat...

    Authors: Guangrong Li, Dan Gao, Hongjun Zhang, Jianbo Li, Hongjin Wang, Shixiao La, jiwei Ma and Zujun Yang

    Citation: Molecular Cytogenetics 2016 9:6

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  36. Content type: Review

    Copy number variations (CNVs) having no (obvious) clinical effects were rediscovered as major part of human genome in 2004. However, for every cytogeneticist microscopically visible harmless CNVs (CG-CNVs) are...

    Authors: Thomas Liehr

    Citation: Molecular Cytogenetics 2016 9:5

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  37. Content type: Research

    The genus Clarias (Clariidae, Siluriformes) contains at least 61 species naturally spread over vast regions of Asia, India and Africa. However, Clarias species have also been introduced in many different countrie...

    Authors: Nuntiya Maneechot, Cassia Fernanda Yano, Luiz Antonio Carlos Bertollo, Nuntaporn Getlekha, Wagner Franco Molina, Sukhonthip Ditcharoen, Bundit Tengjaroenkul, Weerayuth Supiwong, Alongklod Tanomtong and Marcelo de Bello Cioffi

    Citation: Molecular Cytogenetics 2016 9:4

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  38. Content type: Research

    Deletion of 13q14 is the most common cytogenetic change in chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) and is detected in about 50 % of patients by fluorescence in situ hybridization (FIS...

    Authors: Beata Grygalewicz, Renata Woroniecka, Jolanta Rygier, Klaudia Borkowska, Iwona Rzepecka, Martyna Łukasik, Agnieszka Budziłowska, Grzegorz Rymkiewicz, Katarzyna Błachnio, Beata Nowakowska, Magdalena Bartnik, Monika Gos and Barbara Pieńkowska-Grela

    Citation: Molecular Cytogenetics 2016 9:1

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  39. Content type: Case Report

    About 7 % of karyotypically balanced chromosomal rearrangements (BCRs) are associated with congenital anomalies due to gene or regulatory element disruption, and cryptic imbalances on rearranged chromosomes. R...

    Authors: Ana Carolina S. Fonseca, Adriano Bonaldi, Simone A. S. Fonseca, Paulo A. Otto, Fernando Kok, Mads Bak, Niels Tommerup and Angela M. Vianna-Morgante

    Citation: Molecular Cytogenetics 2015 8:106

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  40. Content type: Case Report

    To develop a novel preimplantation genetic screening (PGS) test using next generation sequencing(NGS) as a alternative to current array comparative genomic hybridization (array CGH) method for detection of sma...

    Authors: Jian Ou, Wei Wang, Tao Feng, Lianming Liao, Qingxia Meng, Qinyan Zou, Jie Ding, Aiyan Zheng, Chengying Duan, Peipei Li, Qiang Liu, Chunhua Lin and Hong Li

    Citation: Molecular Cytogenetics 2015 8:105

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  41. Content type: Research

    Studies of model organisms have demonstrated that DNA cytosine methylation and histone modifications are key regulators of gene expression in biological processes. Comparatively little is known about the prese...

    Authors: Renae Domaschenz, Alexandra M. Livernois, Sudha Rao, Tariq Ezaz and Janine E. Deakin

    Citation: Molecular Cytogenetics 2015 8:104

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  42. Content type: Research

    Array-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphism...

    Authors: Isabel Marques Carreira, Susana Isabel Ferreira, Eunice Matoso, Luís Miguel Pires, José Ferrão, Ana Jardim, Alexandra Mascarenhas, Marta Pinto, Nuno Lavoura, Cláudia Pais, Patrícia Paiva, Lúcia Simões, Francisco Caramelo, Lina Ramos, Margarida Venâncio, Fabiana Ramos…

    Citation: Molecular Cytogenetics 2015 8:103

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  43. Content type: Case Report

    Chronic Lymphocytic Leukemia (CLL) is a lymphoproliferative disease characterized by multiple recurring clonal cytogenetic anomalies and is the most common leukemia in adults. Chromosomal abnormalities associa...

    Authors: Roman Alpatov, Billie Carstens, Kimberly Harding, Carolyn Jarrett, Sudabeh Balakhani, Jessica Lincoln, Peter Brzeskiewicz, Yu Guo, Alex Ohene-Mobley, Jamie LeRoux, Veronica McDaniel, Lynne Meltesen, Diane Minka, Mahendra Patel, Cyrus Manavi and Karen Swisshelm

    Citation: Molecular Cytogenetics 2015 8:101

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  44. Content type: Research

    Congenital heart defects (CHD) represent one of the most common birth defects. This study aimed to evaluate the value of multiplex ligation-dependent probe amplification (MLPA) as a tool to detect the copy num...

    Authors: Jingjing Zhang, Dingyuan Ma, Yan Wang, Li Cao, Yun Wu, Fengchang Qiao, An Liu, Li Li, Ying Lin, Gang Liu, Cuiyun Liu, Ping Hu and Zhengfeng Xu

    Citation: Molecular Cytogenetics 2015 8:100

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