Search Results - "comparative genomics"

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  1. 241
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    Long-read next-generation sequencing for molecular diagnosis of pediatric endocrine disorders by Yoko Kuroki, Atsushi Hattori, Keiko Matsubara, Maki Fukami

    Published 2024
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  2. 242
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    Prenatal Diagnosis and Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived from Chromosome 18 and Associated With a Reciprocal Translocation I... by Chih-Ping Chen, Chyi-Chyang Lin, Yi-Ning Su, Fuu-Jen Tsai, Ju-Ting Chen, Schu-Rern Chern, Chen-Chi Lee, Dai-Dyi Town, Li-Feng Chen, Pei-Chen Wu, Wayseen Wang

    Published 2010
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  3. 243
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    Embryological results in married couples with combination of male and female factors by O. M. Nosenko, A. I. Seylova

    Published 2019
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  4. 244
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    De Novo Interstitial Deletion of Chromosome 2 (p23p24) by Pen-Hua Su, Jia-Yuh Chen, Teng-Fu Tsao, Suh-Jen Chen

    Published 2011
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  5. 245
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    Integration of genomic copy number variations and chemotherapy-response biomarkers in pediatric sarcoma by Lijun Cheng, Pankita H. Pandya, Enze Liu, Pooja Chandra, Limei Wang, Mary E. Murray, Jacquelyn Carter, Michael Ferguson, Mohammad Reza Saadatzadeh, Khadijeh Bijangi-Visheshsaraei, Mark Marshall, Lang Li, Karen E. Pollok, Jamie L. Renbarger

    Published 2019
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  6. 246
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    Bacterial Artificial Chromosomes

    Published 2011
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  7. 247
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    Microarrays. The bridges in the knowledge of mental retardarion diagnosed in childhood by Márquez González Horacio, Márquez Flores Horacio, Camarillo Blancarte Leyla

    Published 2014
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  8. 248
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    "Idiopathic" mental retardation and new chromosomal abnormalities by El-Malhany Nadia, Lo-Castro Adriana, Galasso Cinzia, Curatolo Paolo

    Published 2010
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  9. 249
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    MYT1L mutation in a patient with severe early-onset obesity and intellectual disability by André Costa e Silva, Inês Maio, Cecília Martins, Sara Pires, Cláudia Gonçalves

    Published 2024
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  10. 250
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    Monosomy 3pter-p25.3 and Trisomy 1q42.13-qter in a Boy With Profound Growth and Developmental Restriction, Multiple Congenital Anomalies, and Early Death by Chumei Li, Vikas Mahajan, Jia-Chi Wang, Bosco Paes

    Published 2013
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  11. 251
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    Spondylocostal dysostosis 1 - case report and literature review by Elżbieta Drachal, Paweł Zapolnik, Łukasz Dembiński, Michał Zgurski, Antoni Pyrkosz

    Published 2023
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  12. 252
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    Live birth from a patient with a threeway balanced translocation t5 8 12 by Anil Ramdeo, Kinnon Naidoo, Teresa Ernest, Katarzyna Pluta

    Published 2015
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  13. 253
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    Prenatal diagnosis of hemivertebrae-A likely association with 7q deletion by Yan-Qin Song, Min Chen, Zhen-ling Yang, Wen-Yin He, Wei-Qiang Liu, Ying Li, Ya-Fei Gong, Jia-Yan Wang, Xiao-Fang Sun, Xin-Jie Chen

    Published 2016
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  14. 254
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    NRXN1 Deletion in Two Twins' Genotype and Phenotype: A Clinical Case and Literature Review by Monica Sciacca, Lidia Marino, Giovanna Vitaliti, Raffaele Falsaperla, Silvia Marino

    Published 2022
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  15. 255
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    Epilepsy and chromosomal abnormalities by Sorge Giovanni, Sorge Anna

    Published 2010
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  16. 256
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    Preimplantation genetic testing: Its evolution, where are we today? by Firuza Rajesh Parikh, Arundhati Sitaram Athalye, Nandkishor Jagannath Naik, Dattatray Jayaram Naik, Rupesh Ramesh Sanap, Prochi Fali Madon

    Published 2018
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  17. 257
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    High-Resolution Genomic Profiling of Chromosomal Abnormalities in Human Stem Cells Using the 135 K StemArray by Aaron M. Elliott, Kristi A. Hohenstein Elliott, Anja Kammesheidt

    Published 2012
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  18. 258
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    Gene amplification and point mutations in pyrimidine metabolic genes in 5-fluorouracil resistant Leishmania infantum. by Jean-François Ritt, Frédéric Raymond, Philippe Leprohon, Danielle Légaré, Jacques Corbeil, Marc Ouellette

    Published 2013
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  19. 259
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    Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio by Neus Castells-Sarret, Anna M. Cueto-González, Mar Borregan, Fermina López-Grondona, Rosa Miró, Eduardo Tizzano, Alberto Plaja

    Published 2018
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  20. 260
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    An Early Case of Complete Androgen Insensitivity Syndrome by Leen Matalka MD, S. Joy Dean MD, Giovanna Beauchamp MD, Bhuvana Sunil MD

    Published 2023
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