Hasil Pencarian - Rebekah Jobling

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  1. 1
    P342: Loss of function variants in ACTN2 in pediatric patients with infantile-onset dilated cardiomyopathy

    P342: Loss of function variants in ACTN2 in pediatric patients with infantile-onset dilated cardiomyopathy oleh Laura Zahavich, Samantha MacPherson, Aamir Jeewa, Rebekah Jobling

    Diterbitkan 2024-01-01
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  2. 2
    Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis

    Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis oleh Jonathan H. Rayment, Rebekah Jobling, Sarah Bowdin, Ernest Cutz, Sharon D. Dell

    Diterbitkan 2019-04-01
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  3. 3
    Phenotypes and genotypes of mitochondrial aminoacyl‐tRNA synthetase deficiencies from a single neurometabolic clinic

    Phenotypes and genotypes of mitochondrial aminoacyl‐tRNA synthetase deficiencies from a single neurometabolic clinic oleh Aaisha Al Balushi, Diana Matviychuk, Rebekah Jobling, Gajja S. Salomons, Susan Blaser, Saadet Mercimek‐Andrews

    Diterbitkan 2020-01-01
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  4. 4
    P218: SMAD6 variants in congenital heart disease

    P218: SMAD6 variants in congenital heart disease oleh Marci Schwartz, Olivia Moran, Xin Chen, Roozbeh Manshaei, Kelsey Kalbfleisch, Raymond Kim, Rebekah Jobling

    Diterbitkan 2024-01-01
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  5. 5
    P228: Molecular and clinical analyses of LRP1 and LRP2 variants in human congenital cardiac left-sided lesions

    P228: Molecular and clinical analyses of LRP1 and LRP2 variants in human congenital cardiac left-sided lesions oleh Xin Chen, Qiliang Ding, Roozbeh Manshaei, Marci Schwartz, Olivia Moran, Kaitlin Stanley, Raymond Kim, Rebekah Jobling

    Diterbitkan 2024-01-01
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  6. 6
    Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B

    Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B oleh Fady Hannah-Shmouni, Lauren MacNeil, Murray Potter, Rebekah Jobling, Grace Yoon, Suzanne Laughlin, Susan Blaser, Michal Inbar-Feigenberg

    Diterbitkan 2019-03-01
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  7. 7
    P169: Characterizing the phenotypic spectrum and estimated penetrance of families with pathogenic loss of function variants in the FLT4 gene

    P169: Characterizing the phenotypic spectrum and estimated penetrance of families with pathogenic loss of function variants in the FLT4 gene oleh Olivia Moran, Cherith Somerville, Miriam Reuter, Kelsey Kalbfleisch, Marci Schwartz, Xin Chen, Roozbeh Manshaei, Raymond Kim, Seema Mital, Rebekah Jobling

    Diterbitkan 2024-01-01
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  8. 8
    P474: Precision child health: Integrating a consultative pharmacogenetics (PGx) program into clinical care at the Hospital for Sick Children*

    P474: Precision child health: Integrating a consultative pharmacogenetics (PGx) program into clinical care at the Hospital for Sick Children* oleh Iris Cohn, Olivia Moran, Kaitlin Stanley, Sierra Scodellaro, April Kennedy, Roozbeh Manshaei, Ruud Verstegen, Shinya Ito, Rebekah Jobling, Tamorah Lewis, Raymond Kim

    Diterbitkan 2024-01-01
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  9. 9
    O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects

    O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects oleh Cherith Somerville, Ersa Erkut, Marci Schwartz, Xin Chen, Roozbeh Manshaei, Qiliang Ding, Karin Diderich, Lisa Herzig, Bri Dingmann, Chloe Quelin, Véronique Pingault, Christèle Dubourg, Joana Rosmaninho Salgado, Sérgio Sousa, Daniel Koboldt, Rachel Gosselin, Kim McBride, Maria Arvio, Irma Järvelä, Isabelle Schrauwen, Laura Conlin, Cara Skraban, Sara Reichert, Jacqueline Leonard, Emma Bedoukian, Raymond Kim, Ian Scott, Rebekah Jobling

    Diterbitkan 2024-01-01
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  10. 10
    Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

    Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation oleh Reini E N van der Welle, Rebekah Jobling, Christian Burns, Paolo Sanza, Jan A van der Beek, Alfonso Fasano, Lan Chen, Fried J Zwartkruis, Susan Zwakenberg, Edward F Griffin, Corlinda ten Brink, Tineke Veenendaal, Nalan Liv, Conny M A van Ravenswaaij‐Arts, Henny H Lemmink, Rolph Pfundt, Susan Blaser, Carolina Sepulveda, Andres M Lozano, Grace Yoon, Teresa Santiago‐Sim, Cedric S Asensio, Guy A Caldwell, Kim A Caldwell, David Chitayat, Judith Klumperman

    Diterbitkan 2021-05-01
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  11. 11
    Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations

    Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations oleh Trevor Jamieson, Kevin Thorpe, Francois Bernier, Melyssa Aronson, Marc Clausen, Rita Kodida, Emma Reble, June C Carroll, Jordan Lerner-Ellis, Yvonne Bombard, Matthew Osmond, Muhammad Mamdani, Ronald Cohn, Emily Seto, Hanna Faghfoury, Josh Silver, Maureen Smith, Lauren Chad, Jan M Friedman, Robin Z Hayeems, Michael Brudno, Gregory Costain, Quynh Pham, Anne-Marie Laberge, Christian Marshall, Cheryl Shuman, Rebekah Jobling, Irfan Dhalla, Serena Shastri-Estrada, Daniel Assamad, Stephanie Luca, Stacy Hewson, Eriskay Liston, Frank Rudzicz, Wendy Ungar, Guylaine D'Amours

    Diterbitkan 2024-09-01
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