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1دورية أكاديمية
المؤلفون: Joseph T. Shieh, Jesus A. Tintos-Hernandez, Chaya N. Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A. Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C. Lee, Joanna J. Phillips, César A.P.F. Alves, Ivan J. Dmochowski, Xilma R. Ortiz-González
المصدر: HGG Advances, Vol 4, Iss 4, Pp 100236- (2023)
مصطلحات موضوعية: pediatric genetics, exome sequencing, gene disease discovery, dominant negative, pediatric neurology, anti-sense, Genetics, QH426-470
وصف الملف: electronic resource
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2
المؤلفون: Joseph T Shieh, Jesus A Tintos-Hernández, Chaya N. Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A. Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C Lee, Joanna J Phillips, César A P F Alves, Ivan J Dmochowski, Xilma R Ortiz-González
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e468d10d9be433607d8768fc65e418b4
https://doi.org/10.1101/2023.01.30.23285099 -
3دورية أكاديمية
المؤلفون: Rachel Y. Oh, Ali AlMail, David Cheerie, George Guirguis, Huayun Hou, Kyoko E. Yuki, Bushra Haque, Bhooma Thiruvahindrapuram, Christian R. Marshall, Roberto Mendoza-Londono, Adam Shlien, Lianna G. Kyriakopoulou, Susan Walker, James J. Dowling, Michael D. Wilson, Gregory Costain
المصدر: HGG Advances, Vol 5, Iss 3, Pp 100299- (2024)
مصطلحات موضوعية: transcriptomics, RNA sequencing, splicing, genetic testing, variant interpretation, genetic counseling, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Tanvi Anandampillai, Peter Kannu, Yigal Dror, Roberto Mendoza-Londono, Irene Lara-Corrales, Yiming Wang
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101223- (2024)
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Lucie Dupuis, Anna Szuto, Christian Marshall, Lianna Kyriakopoulou, Roberto Mendoza-Londono, Vanda McNiven
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101282- (2024)
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Wendy Ungar, Vercancy Wu, Christian Marshall, Jackie Hwang, Robin Hayeems, Kate Tsiplova, Meredith Gillespie, Anna Szuto, Caitlin Chisholm, Dimitri Stavropoulos, Viji Venkataramanan, Bowen Xiao, Sheena Li, Gregory Costain, Melanie Beaulieu Bergeron, Sarah Sawyer, Lynette Lau, Lijia Huang, Roberto Mendoza-Londono, Brian Smith, Edward Higginbotham, Martin Somerville, Kym Boycott
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101365- (2024)
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Riyana Babul-Hirji, Raman Sondhi, Roberto Mendoza-Londono
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101391- (2024)
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Michael Mackley, Kym Boycott, Shaimaa Helal, Lauren Chad, Gregory Costain, Ronald Cohn, Hanna Faghfoury, Aspasia Karalis, Roberto Mendoza-Londono, Robin Hayeems
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101442- (2024)
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Meredith Gillespie, Robin Hayeems, Christian Marshall, Anna Szuto, Caitlin Chisholm, James Stavropoulos, Lijia Huang, Lynette Lau, Wilson Sung, Melanie Beaulieu Bergeron, Ted Higginbotham, Meredith Curtis, Venuja Sriretnakumar, Hassan Zaidi, Emma Hitchcock, Audrey Schaffer, Taila Hartley, Sarah Sawyer, Wendy Ungar, Gregory Costain, Roberto Mendoza-Londono, Anna Pan, Jennifer Keating, Diana Matviychuk, Tamara Braid, Niri Carroll, Martin Somerville, Kym Boycott
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101439- (2024)
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Meredith Gillespie, Robin Hayeems, Christian Marshall, Anna Szuto, Caitlin Chisholm, Wendy Ungar, James Stavropoulos, Lijia Huang, Viji Venkataramanan, Lynette Lau, Wilson Sung, Melanie Beaulieu Bergeron, Ted Higginbotham, Meredith Curtis, Venuja Sriretnakumar, Hassan Zaidi, Emma Hitchcock, Audrey Schaffer, Sarah Sawyer, Gregory Costain, Roberto Mendoza-Londono, Martin Somerville, Kym Boycott, Taila Hartley
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101522- (2024)
وصف الملف: electronic resource