Hasil Pencarian - Fabiola Quintero-Rivera

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  1. 1
    Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis

    Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis oleh Omid Kohannim, Jane Peredo, Katrina M. Dipple, Fabiola Quintero-Rivera

    Diterbitkan 2011-01-01
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  2. 2
    Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation

    Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation oleh Judith Fan, T. Niroshini Senaratne, Jason Y. Liu, Michelle Bina, Julian A. Martinez-Agosto, Fabiola Quintero-Rivera, Jessica J. Wang

    Diterbitkan 2023-03-01
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  3. 3
    P836: A framework and implementation of the Association of Professors of Human and Medical Genetics updated core competencies for medical school

    P836: A framework and implementation of the Association of Professors of Human and Medical Genetics updated core competencies for medical school oleh Fabiola Quintero-Rivera, Sabrina Nuñez, Jonathan Bernstein, David Gardner, Aditi Parikh, Erin Strovel, Myla Ashfaq, Renee LeClair, Lauren Massingham

    Diterbitkan 2024-01-01
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  4. 4
    P109: Identification of new fusion partners for ETV6 gene in hematologic malignancy by next generation sequencing (NGS)

    P109: Identification of new fusion partners for ETV6 gene in hematologic malignancy by next generation sequencing (NGS) oleh Sumayya Aslam, Nyein Nyein Htun, Piyanuch Kongtim, Kiran Naqvi, Deepa Jeyakumar, Xiaohui Zhao, Sherif Rezk, Fabiola Quintero-Rivera, Jefferson Chan, Ying Zhang

    Diterbitkan 2024-01-01
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  5. 5
    P091: Unfavorable disease progression in patients with chronic myeloid leukemia and concurrent t(6;9) translocation (DEK-NUP214 fusion) or inversion 16

    P091: Unfavorable disease progression in patients with chronic myeloid leukemia and concurrent t(6;9) translocation (DEK-NUP214 fusion) or inversion 16 oleh Ying Zhang, Jack Reid, Kapitolina Semenova, Deepa Jeyakumar, Lisa Lee, Katherine Dang, Johnson Tso, Lynn Yang, Angela Fleishman, Jefferson Chan, Xiaohui Zhao, Fabiola Quintero-Rivera

    Diterbitkan 2023-01-01
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  6. 6
    O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chromosomes*

    O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chro... oleh Fabiola Quintero-Rivera, Yulia Mostovoy, Philip Boone, Steve Huang, Kiran Garimella, Julian Martinez-Agosto, Bianca Russell, Tera Bowers, Tim De Smet, Stacey Gabriel, James Gusella, Harrison Brand, Michael Talkowski

    Diterbitkan 2023-01-01
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  7. 7
    O43: Characterization of the prenatal renal phenotype associated with 17q12/HNF1B microdeletions

    O43: Characterization of the prenatal renal phenotype associated with 17q12/HNF1B microdeletions oleh Courtney Verscaj, Frances Velez-Bartolomei, Ethan Bodle, Katie Chan, Michael Lyons, Willa Thorson, Wen-Hann Tan, John Graham, Angela Peron, Fabiola Quintero-Rivera, Elaine Zackai, Mary Ann Thomas, Cathy Stevens, Margaret Adam, Lynne Bird, Marilyn Jones, Dena Matalon

    Diterbitkan 2023-01-01
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  8. 8
    Increased AID results in mutations at the CRLF2 locus implicated in Latin American ALL health disparities

    Increased AID results in mutations at the CRLF2 locus implicated in Latin American ALL health disparities oleh Valeria Rangel, Jason N. Sterrenberg, Aya Garawi, Vyanka Mezcord, Melissa L. Folkerts, Sabrina E. Calderon, Yadhira E. Garcia, Jinglong Wang, Eli M. Soyfer, Oliver S. Eng, Jennifer B. Valerin, Sora Park Tanjasiri, Fabiola Quintero-Rivera, Marcus M. Seldin, Selma Masri, Richard L. Frock, Angela G. Fleischman, Nicholas R. Pannunzio

    Diterbitkan 2024-07-01
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  9. 9
    NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.

    NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. oleh Weining Lu, Fabiola Quintero-Rivera, Yanli Fan, Fowzan S Alkuraya, Diana J Donovan, Qiongchao Xi, Annick Turbe-Doan, Qing-Gang Li, Craig G Campbell, Alan L Shanske, Elliott H Sherr, Ayesha Ahmad, Roxana Peters, Benedict Rilliet, Paloma Parvex, Alexander G Bassuk, David J Harris, Heather Ferguson, Chantal Kelly, Christopher A Walsh, Richard M Gronostajski, Koenraad Devriendt, Anne Higgins, Azra H Ligon, Bradley J Quade, Cynthia C Morton, James F Gusella, Richard L Maas

    Diterbitkan 2007-05-01
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  10. 10
    Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

    Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders oleh Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel

    Diterbitkan 2021-05-01
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