Výsledky vyhledávání - Dennis E. Bulman

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  1. 1
    The Human Skeletal Muscle Na Channel Mutation R669H Associated with Hypokalemic Periodic Paralysis Enhances Slow Inactivation

    The Human Skeletal Muscle Na Channel Mutation R669H Associated with Hypokalemic Periodic Paralysis Enhances Slow Inactivation Autor Arie Struyk, Kylie A. Scoggan, Dennis E. Bulman, Stephen C. Cannon

    Vydáno 2000
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  2. 2
    Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening

    Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening Autor Christina Blagojevic, Tracy Heung, Mylène Thériault, Aoy Tomita‐Mitchell, Pranesh Chakraborty, Kristin D. Kernohan, Dennis E. Bulman, Anne S. Bassett

    Vydáno 2021
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  3. 3
    The defining DNA methylation signature of Floating-Harbor Syndrome

    The defining DNA methylation signature of Floating-Harbor Syndrome Autor Rebecca L. Hood, Laila C. Schenkel, Sarah M. Nikkel, Peter Ainsworth, Guillaume Paré, Kym M. Boycott, Dennis E. Bulman, Bekim Sadiković

    Vydáno 2016
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  4. 4
    Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog

    Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog Autor Ashley M Byrnes, Lemuel Racacho, Allison Grimsey, Louanne Hudgins, Andrea Kwan, Michel Sangalli, Alexa Kidd, Yuval Yaron, YL Lau, Sarah M. Nikkel, Dennis E. Bulman

    Vydáno 2009
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  5. 5
    Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

    Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease Autor Hugh J. McMillan, Jeremy Schwartzentruber, Amanda Smith, Suzie Lee, Pranesh Chakraborty, Dennis E. Bulman, Chandree L. Beaulieu, Jacek Majewski, Kym M. Boycott, Michael T. Geraghty

    Vydáno 2014
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  6. 6
    Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

    Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia Autor Lijia Huang, Jodi Warman‐Chardon, Melissa T. Carter, K. Friend, Tracy Dudding, Jeremy Schwartzentruber, Ruobing Zou, Peter W. Schofield, Stuart Douglas, Dennis E. Bulman, Kym M. Boycott

    Vydáno 2012
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  7. 7
    Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22

    Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22 Autor Elayne M. Chan, Dennis E. Bulman, Andrew D. Paterson, Julie Turnbull, E. Andermann, F. Andermann, Guy A. Rouleau, Antonio V. Delgado‐Escueta, Stephen W. Scherer, Berge A. Minassian

    Vydáno 2003
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  8. 8
    Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

    Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria Autor Julien L. Marcadier, Amanda M. Smith, Daniela Pohl, Jeremy Schwartzentruber, Osama Y. Al-Dirbashi, Jacek Majewski, Sacha Ferdinandusse, Ronald J. A. Wanders, Dennis E. Bulman, Kym M. Boycott, Pranesh Chakraborty, Michael T. Geraghty

    Vydáno 2013
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  9. 9
    Voluntary Running Triggers VGF-Mediated Oligodendrogenesis to Prolong the Lifespan of Snf2h-Null Ataxic Mice

    Voluntary Running Triggers VGF-Mediated Oligodendrogenesis to Prolong the Lifespan of Snf2h-Null Ataxic Mice Autor Matías Alvarez-Saavedra, Yves De Repentigny, Doo Yang, Ryan W. O’Meara, Keqin Yan, Lukas E. Hashem, Lemuel Racacho, Ilya Ioshikhes, Dennis E. Bulman, Robin J. Parks, Rashmi Kothary, David J. Picketts

    Vydáno 2016
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  10. 10
    Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

    Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes Autor Erfan Aref‐Eshghi, David I. Rodenhiser, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, Rebecca L. Hood, Dennis E. Bulman, Kristin D. Kernohan, Kym M. Boycott, Philippe M. Campeau, Charles E. Schwartz, Bekim Sadiković

    Vydáno 2018
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  11. 11
    Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

    Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency Autor Hugh J. McMillan, Thea Worthylake, Jeremy Schwartzentruber, Chloe Gottlieb, Sarah Lawrence, Alex MacKenzie, Chandree L. Beaulieu, P. A. W. Mooyer, Ronald J. A. Wanders, Jacek Majewski, Dennis E. Bulman, Michael T. Geraghty, Sacha Ferdinandusse, Kym M. Boycott

    Vydáno 2012
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  12. 12
    Mutations in EZH2 Cause Weaver Syndrome

    Mutations in EZH2 Cause Weaver Syndrome Autor William T. Gibson, Rebecca L. Hood, Shing H. Zhan, Dennis E. Bulman, Anthony P. Fejes, Richard A. Moore, Andrew J. Mungall, Patrice Eydoux, Riyana Babul‐Hirji, Jianghong An, Marco A. Marra, David Chitayat, Kym M. Boycott, David D. Weaver, Steven J.M. Jones

    Vydáno 2011
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  13. 13
    Intellectual disability associated with a homozygous missense mutation in THOC6

    Intellectual disability associated with a homozygous missense mutation in THOC6 Autor Chandree L. Beaulieu, Lijia Huang, A. Micheil Innes, Marie‐Andrée Akimenko, Erik G. Puffenberger, Charles E. Schwartz, Jerry Paul, Carole Ober, Robert A. Hegele, D. Ross McLeod, Jeremy Schwartzentruber, Jacek Majewski, Dennis E. Bulman, Jillian S. Parboosingh, Kym M. Boycott

    Vydáno 2013
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  14. 14
    Parkinson’s disease-linked LRRK2 is expressed in circulating and tissue immune cells and upregulated following recognition of microbial structures

    Parkinson’s disease-linked LRRK2 is expressed in circulating and tissue immune cells and upregulated following recognition of microbial structures Autor Mansoureh Hakimi, Thirumahal Selvanantham, Erika Swinton, Ruth Padmore, Youren Tong, Ghassan Kabbach, Kateřina Venderová, Stephen E. Girardin, Dennis E. Bulman, Clemens R. Scherzer, Matthew J. LaVoie, Denis Gris, David S. Park, Jonathan B. Angel, Jie Shen, Dana J. Philpott, Michael G. Schlossmacher

    Vydáno 2011
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  15. 15
    Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia

    Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia Autor Sarah L. Sawyer, Jeremy Schwartzentruber, Chandree L. Beaulieu, David A. Dyment, Amanda Smith, Jodi Warman‐Chardon, Grace Yoon, Guy A. Rouleau, Oksana Suchowersky, Victoria Mok Siu, Lisa Murphy, Robert A. Hegele, Christian R. Marshall, Dennis E. Bulman, Jacek Majewski, Mark A. Tarnopolsky, Kym M. Boycott

    Vydáno 2013
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  16. 16
    Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy

    Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy Autor Devon L. Johnstone, Thi-Tuyet-Mai Nguyen, Yoshiko Murakami, Kristin D. Kernohan, Martine Tétreault, Claire Goldsmith, Asif Doja, Justin D. Wagner, Lijia Huang, Taila Hartley, Anik St‐Denis, Françoise Le Deist, Jacek Majewski, Dennis E. Bulman, Taroh Kinoshita, David A. Dyment, Kym M. Boycott, Philippe M. Campeau

    Vydáno 2017
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  17. 17
    Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4

    Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4 Autor Roel A. Ophoff, Gisela M. Terwindt, Monique N. Vergouwe, Ronald van Eijk, Peter J. Oefner, Susan M.G. Hoffman, Jane E. Lamerdin, Harvey W. Mohrenweiser, Dennis E. Bulman, Maurizio Ferrari, Joost Haan, Dick Lindhout, Gert‐Jan B. van Ommen, Marten H. Hofker, Michel D. Ferrari, Rune R. Frants

    Vydáno 1996
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  18. 18
    Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

    Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit Autor Hussein Daoud, Stephanie M. Luco, Rui Li, Eric Bareke, Chandree L. Beaulieu, Olga Jarinova, Nancy Carson, Sarah M. Nikkel, Gail E. Graham, Julie Richer, Christine M. Armour, Dennis E. Bulman, Pranesh Chakraborty, Michael T. Geraghty, Matthew A. Lines, Thierry Lacaze‐Masmonteil, Jacek Majewski, Kym M. Boycott, David A. Dyment

    Vydáno 2016
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  19. 19
    Mutations in PIK3R1 Cause SHORT Syndrome

    Mutations in PIK3R1 Cause SHORT Syndrome Autor David A. Dyment, Amanda Smith, Diana Alcantara, Jeremy Schwartzentruber, Lina Basel‐Vanagaite, Cynthia J. Curry, I. Karen Temple, William Reardon, Sahar Mansour, Mushfequr R. Haq, Rodney D. Gilbert, Ordan J. Lehmann, Megan R. Vanstone, Chandree L. Beaulieu, Jacek Majewski, Dennis E. Bulman, Mark O’Driscoll, Kym M. Boycott, A. Micheil Innes

    Vydáno 2013
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  20. 20
    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease Autor Allison A. Dilliott, Sali M.K. Farhan, Mahdi Ghani, Christine Sato, Eric Liang, Ming Zhang, Adam D. McIntyre, Henian Cao, Lemuel Racacho, John F. Robinson, Michael J. Strong, Mario Masellis, Dennis E. Bulman, Ekaterina Rogaeva, Anthony E. Lang, Maria Carmela Tartaglia, Elizabeth Finger, Lorne Zinman, John Turnbull, Morris Freedman, Rick Swartz, Sandra E. Black, Robert A. Hegele

    Vydáno 2018
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