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Marcello Scala, Amedeo Bianchi, Francesca Bisulli, Antonietta Coppola, Maurizio Elia, Marina Trivisano, Dario Pruna, Tommaso Pippucci, Laura Canafoglia, Simona Lattanzi, Silvana Franceschetti, Carlo Nobile, Antonio Gambardella, Roberto Michelucci, Federico Zara & Pasquale Striano. (2020) Advances in genetic testing and optimization of clinical management in children and adults with epilepsy. Expert Review of Neurotherapeutics 20:3, pages 251-269.
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Enrica Macorano, Mattia Gentile, Giandomenico Stellacci, Mariano Manzionna, Federica Mele, Mariagrazia Calvano, Mirko Leonardelli, Stefano Duma, Giovanni De Gabriele, Alessandro Cristalli, Raffaella Minella, Aldo Di Fazio & Francesco Introna. (2023) ‘Compressed Baby Head’: A New ‘Abusive Head Trauma’ Entity?. Children 10:6, pages 1003.
Crossref
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Alessandro De Falco, Achille Iolascon, Flora Ascione & Carmelo Piscopo. (2023) New Insights in 9q21.13 Microdeletion Syndrome: Genotype–Phenotype Correlation of 28 Patients. Genes 14:5, pages 1116.
Crossref
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Yan Lü, Yulin Jiang, Xiya Zhou, Na Hao, Guizhen Lü, Xiangxue Guo, Ruidong Guo, Wenjie Liu, Chenlu Xu, Jiazhen Chang, Mengmeng Li, Hanzhe Zhang, Jing Zhou, Wei (Victor) Zhang & Qingwei Qi. (2023) Evaluation and Analysis of Absence of Homozygosity (AOH) Using Chromosome Analysis by Medium Coverage Whole Genome Sequencing (CMA-seq) in Prenatal Diagnosis. Diagnostics 13:3, pages 560.
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Crossref
Ena Gupta, Juhi Saxena, Sanni Kumar, Umang Sharma, Saundarya Rastogi, Vijay Kumar Srivastava, Sanket Kaushik & Anupam Jyoti. (2023) Fast Track Diagnostic Tools for Clinical Management of Sepsis: Paradigm Shift from Conventional to Advanced Methods. Diagnostics 13:2, pages 277.
Crossref
Crossref
Liselot van der Laan, Kathleen Rooney, Tessa MA Trooster, Marcel MAM Mannens, Bekim Sadikovic & Peter Henneman. (2022) DNA methylation episignatures: insight into copy number variation. Epigenomics.
Crossref
Crossref
Jessica Alejandra Zapata-García, Alma Rocío Riveros-Magaña, Pablo Cesar Ortiz-Lazareno, Georgina Hernández-Flores, Luis Felipe Jave-Suárez & Adriana Aguilar-Lemarroy. (2022) Comparative Genomic Hybridization and Transcriptome Sequencing Reveal Genes with Gain in Acute Lymphoblastic Leukemia: JUP Expression Emerges as a Survival-Related Gene. Diagnostics 12:11, pages 2788.
Crossref
Crossref
Sinem Yalcintepe, Engin Atli, Emine Ikbal Atli, Selma Demir, Yasemin Ozen, Cisem Mail & Hakan Gurkan. (2022) Genotype-phenotype correlations of pathogenic copy number variations on X chromosome detected by comparative genomic hybridization. Human Gene 33, pages 201034.
Crossref
Crossref
Dijana Perovic, Tatjana Damnjanovic, Biljana Jekic, Marija Dusanovic‐Pjevic, Milka Grk, Ana Djuranovic, Milica Rasic, Ivana Novakovic & Nela Maksimovic. (2022) Chromosomal microarray in postnatal diagnosis of congenital anomalies and neurodevelopmental disorders in Serbian patients. Journal of Clinical Laboratory Analysis 36:6.
Crossref
Crossref
José Antonio Carrillo-Ávila, Purificación Catalina & Rocío Aguilar-Quesada. (2022) Quality Control of Cell Lines Using DNA as Target. DNA 2:1, pages 44-55.
Crossref
Crossref
Vanessa Sodré de Souza, Gabriela Corassa Rodrigues da Cunha, Beatriz R. Versiani, Claudiner Pereira de Oliveira, Maria Teresa Alves Silva Rosa, Silviene F. de Oliveira, Patricia N. Moretti, Juliana F. Mazzeu & Aline Pic-Taylor. (2022) Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review. Molecular Syndromology, pages 1-15.
Crossref
Crossref
Xia Zhang, Qingyan Huang, Zhikang Yu & Heming Wu. (2021) Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next‐generation sequencing analysis. The Journal of Gene Medicine 23:12.
Crossref
Crossref
Isabel Costantino, Juliet Nicodemus & Jerold Chun. (2021) Genomic Mosaicism Formed by Somatic Variation in the Aging and Diseased Brain. Genes 12:7, pages 1071.
Crossref
Crossref
Tatjana Huebner, Catharina Scholl & Michael Steffens. (2021) Cytogenetic and Biochemical Genetic Techniques for Personalized Drug Therapy in Europe. Diagnostics 11:7, pages 1169.
Crossref
Crossref
Carol D. BerkowitzMoin Vera & Henry J. Lin. 2021. Berkowitz’s Pediatrics. Berkowitz’s Pediatrics.
C. Dubucs, N. Chassaing, C. Sergi, M. Aubert-Mucca, T. Attié-Bitach, D. Lacombe, C. Thauvin-Robinet, S. Arpin, M. J. Perez, C. Cabrol, C. P. Chen, J. Aziza, E. Colin, J. Martinovic, P. Calvas & Julie Plaisancié. (2020) Re-focusing on Agnathia-Otocephaly complex. Clinical Oral Investigations 25:3, pages 1353-1362.
Crossref
Crossref
Xiaoqing Ye, Shengmou Lin, Xiwei Song, Meihua Tan, Jia Li, Jiayan Wang, Huanchen Yan, Huimin Zhang, Shaoying Li, Dunjin Chen & Min Chen. (2021) Identification of copy number variants by NGS-based NIPT at low sequencing depth. European Journal of Obstetrics & Gynecology and Reproductive Biology 256, pages 297-301.
Crossref
Crossref
Guo Wen, Jiangbo Dang, Zhongyi Xie, Jinying Wang, Pengfei Jiang, Qigao Guo & Guolu Liang. (2020) Molecular karyotypes of loquat (Eriobotrya japonica) aneuploids can be detected by using SSR markers combined with quantitative PCR irrespective of heterozygosity. Plant Methods 16:1.
Crossref
Crossref
Omar Sheikh & Toshifumi Yokota. (2020) Advances in Genetic Characterization and Genotype–Phenotype Correlation of Duchenne and Becker Muscular Dystrophy in the Personalized Medicine Era. Journal of Personalized Medicine 10:3, pages 111.
Crossref
Crossref
Rachael Thomas, Joan U Pontius, Luke B Borst & Matthew Breen. (2020) Development of a Genome-Wide Oligonucleotide Microarray Platform for Detection of DNA Copy Number Aberrations in Feline Cancers. Veterinary Sciences 7:3, pages 88.
Crossref
Crossref
Lora McClain, Anna M. Segreti, Sharon Nau, Patricia Shaw, David N. Finegold, Lisa A. Pan & David G. Peters. (2019) Chromosome 15q13.3 microduplications are associated with treatment refractory major depressive disorder. Genes, Brain and Behavior 19:5.
Crossref
Crossref
Wenqing Zhang, Jiuxing Li, Bruno Salena & Yingfu Li. (2019) A DNA Switch for Detecting Single Nucleotide Polymorphism within a Long DNA Sequence Under Denaturing Conditions. Chemistry – A European Journal 26:3, pages 592-596.
Crossref
Crossref
Matthew Hoi Kin Chau, Ye Cao, Yvonne Ka Yin Kwok, Samantha Chan, Yiu Man Chan, Huilin Wang, Zhenjun Yang, Hoi Kin Wong, Tak Yeung Leung & Kwong Wai Choy. (2019) Characteristics and mode of inheritance of pathogenic copy number variants in prenatal diagnosis. American Journal of Obstetrics and Gynecology 221:5, pages 493.e1-493.e11.
Crossref
Crossref
Angela C. Weyand, Veronica H. Flood, Jordan A. ShavitSteven W. Pipe. (2019) Efficacy of emicizumab in a pediatric patient with type 3 von Willebrand disease and alloantibodies. Blood Advances 3:18, pages 2748-2750.
Crossref
Crossref
Charlotte Brasch-Andersen, Doron M. Behar, Sandra Garcia Herrero & Carmen Rubio. (2019) Overcoming Challenges in Reproductive Health Applications by Deploying More Sensitive and Accurate Molecular Technologies. EMJ Reproductive Health, pages 2-12.
Crossref
Crossref
Adayabalam S. Balajee & M. Prakash Hande. (2018) History and evolution of cytogenetic techniques: Current and future applications in basic and clinical research. Mutation Research/Genetic Toxicology and Environmental Mutagenesis 836, pages 3-12.
Crossref
Crossref