检索结果 - A. Micheil Innes

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  1. 1
    Pathogenicity of two <i>COQ7</i> mutations and responses to 2,4‐dihydroxybenzoate bypass treatment

    Pathogenicity of two <i>COQ7</i> mutations and responses to 2,4‐dihydroxybenzoate bypass treatment 由 Ying Wang, Christopher Smith, Jillian S. Parboosingh, Aneal Khan, A. Micheil Innes, Siegfried Hekimi

    出版 2017
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  2. 2
    Origin and outcome of pregnancies affected by androgenetic/biparental chimerism

    Origin and outcome of pregnancies affected by androgenetic/biparental chimerism 由 Wendy P. Robinson, Julie Lauzon, A. Micheil Innes, Kenneth Lim, Snezana Arsovska, Deborah E. McFadden

    出版 2006
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  3. 3
    Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery

    Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery 由 Kym M. Boycott, Taila Hartley, Kristin D. Kernohan, David A. Dyment, Heather Howley, A. Micheil Innes, François Bernier, Michael Brudno

    出版 2022
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    Revisão
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  4. 4
    Hepatic Carnitine Palmitoyltransferase I Deficiency Presenting as Maternal Illness in Pregnancy

    Hepatic Carnitine Palmitoyltransferase I Deficiency Presenting as Maternal Illness in Pregnancy 由 A. Micheil Innes, L.E. Seargeant, K. Balachandra, Charles R. Roe, R. J. A. Wanders, Jos P.N. Ruiter, Oscar Casiro, David Grewar, Cheryl R. Greenberg

    出版 2000
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  5. 5
    The value of diagnostic testing for parents of children with rare genetic diseases

    The value of diagnostic testing for parents of children with rare genetic diseases 由 Deborah A. Marshall, Karen V. MacDonald, Sebastian Heidenreich, Taila Hartley, François Bernier, Meredith Gillespie, Brenda McInnes, A. Micheil Innes, Christine M. Armour, Kym M. Boycott

    出版 2019
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  6. 6
    GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in<i>HNRNPK</i>

    GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Cau... 由 Ping Yee Billie Au, Jing You, Oana Caluseriu, Jeremy Schwartzentruber, Jacek Majewski, François Bernier, Marcia Ferguson, David Valle, Jillian S. Parboosingh, Nara Sobreira, A. Micheil Innes, Antonie D. Kline

    出版 2015
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  7. 7
    Homozygous mutations in<i>MFN2</i>cause multiple symmetric lipomatosis associated with neuropathy

    Homozygous mutations in<i>MFN2</i>cause multiple symmetric lipomatosis associated with neuropathy 由 Sarah L. Sawyer, Andy Cheuk‐Him Ng, A. Micheil Innes, Justin D. Wagner, David A. Dyment, Martine Tétreault, Jacek Majewski, Kym M. Boycott, Robert A. Screaton, Garth A. Nicholson

    出版 2015
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  8. 8
    Biallelic Mutations in <i>BRCA1</i> Cause a New Fanconi Anemia Subtype

    Biallelic Mutations in <i>BRCA1</i> Cause a New Fanconi Anemia Subtype 由 Sarah L. Sawyer, Lei Tian, Marketta Kähkönen, Jeremy Schwartzentruber, Martin Kircher, Jacek Majewski, David A. Dyment, A. Micheil Innes, Kym M. Boycott, Lisa A. Moreau, Jukka S. Moilanen, Roger A. Greenberg

    出版 2014
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  9. 9
    A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency

    A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency 由 Rebecca Buchert, Hasan Tawamie, Christopher Smith, Steffen Uebe, A. Micheil Innes, Bassam Al Hallak, Arif B. Ekici, Heinrich Sticht, Bernd Schwarze, Ryan E. Lamont, Jillian S. Parboosingh, François Bernier, Rami Abou Jamra

    出版 2014
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  10. 10
    RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

    RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans 由 Hanan E. Shamseldin, Anas M. Alazami, Melanie Manning, Amal Hashem, Oana Caluseiu, Brahim Tabarki, Edward D. Esplin, Susan Schelley, A. Micheil Innes, Jillian S. Parboosingh, Ryan E. Lamont, Jacek Majewski, François Bernier, Fowzan S. Alkuraya

    出版 2015
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  11. 11
    Identification of Novel Mutations Confirms<i>Pde4d</i>as a Major Gene Causing Acrodysostosis

    Identification of Novel Mutations Confirms<i>Pde4d</i>as a Major Gene Causing Acrodysostosis 由 Danielle C. Lynch, David A. Dyment, Lijia Huang, Sarah M. Nikkel, Didier Lacombe, Philippe M. Campeau, Brendan Lee, Carlos A. Bacino, Jacques L. Michaud, François Bernier, FORGE Canada Consortium, Jillian S. Parboosingh, A. Micheil Innes

    出版 2012
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  12. 12
    Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

    Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia 由 Angela E. Lin, Barbara O’Brien, Laurie Demmer, Kristina K. Almeda, Cynthia L. Blanco, Patrick F. Glasow, Charles I. Berul, Robert M. Hamilton, A. Micheil Innes, Julie Lauzon, Katia Sol‐Church, Karen W. Gripp

    出版 2009
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  13. 13
    A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

    A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers 由 Kym M. Boycott, Taila Hartley, Leslie G. Biesecker, Richard A. Gibbs, A. Micheil Innes, Olaf Rieß, John W. Belmont, Sally L. Dunwoodie, Nebojša Jojić, Timo Lassmann, Deborah Mackay, I. Karen Temple, Axel Visel, Gareth Baynam

    出版 2019
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  14. 14
    <i>PISD</i>is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes

    <i>PISD</i>is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes 由 Tian Zhao, Caitlin Goedhart, Pingdewinde N. Sam, Rasha Sabouny, Susanne Lingrell, Adam J. Cornish, Ryan E. Lamont, François Bernier, David S. Sinasac, Jillian S. Parboosingh, Jean E. Vance, Steven M. Claypool, A. Micheil Innes, Timothy E. Shutt

    出版 2019
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  15. 15
    De novo substitutions of TRPM3 cause intellectual disability and epilepsy

    De novo substitutions of TRPM3 cause intellectual disability and epilepsy 由 David A. Dyment, Paulien A. Terhal, Cecilie F. Rustad, Kristian Tveten, Christopher Griffith, Parul Jayakar, Marwan Shinawi, Sara Ellingwood, Rosemarie Smith, Koen L.I. van Gassen, Kirsty McWalter, A. Micheil Innes, Matthew A. Lines

    出版 2019
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  16. 16
    Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

    Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis 由 Tessa van Dijk, Sacha Ferdinandusse, Jos P.N. Ruiter, Mariëlle Alders, Inge B. Mathijssen, Jillian S. Parboosingh, A. Micheil Innes, Hanne Meijers-Heijboer, Bwee Tien Poll‐The, François Bernier, Ronald J. A. Wanders, Ryan E. Lamont, Frank Baas

    出版 2018
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  17. 17
    The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy

    The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy 由 Walaa Almutawa, Christopher Smith, Rasha Sabouny, Ryan B. Smit, Tian Zhao, Rachel Wong, Laurie Lee-Glover, Justine Desrochers-Goyette, Hema Saranya Ilamathi, Oksana Suchowersky, Marc Germain, Paul E. Mains, Jillian S. Parboosingh, Gerald Pfeffer, A. Micheil Innes, Timothy E. Shutt

    出版 2019
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  18. 18
    Results from an open-label phase 2a study of cerdulatinib, a dual spleen tyrosine kinase/janus kinase inhibitor, in relapsed/refractory peripheral T-cell lymphoma

    Results from an open-label phase 2a study of cerdulatinib, a dual spleen tyrosine kinase/janus kinase inhibitor, in relapsed/refractory peripheral T-cell lymphoma 由 Steven M. Horwitz, Tatyana Feldman, Jing Christine Ye, Michael S. Khodadoust, Javier Muñoz, Paul A. Hamlin, Youn H. Kim, Ryan A. Wilcox, Manish R. Patel, Greg Coffey, A. Micheil Innes, Andreas Betz, Jaymes Holland, Cristina B. Guzmán, Sonali M. Smith

    出版 2025
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  19. 19
    Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

    Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia 由 Belinda Campos‐Xavier, Danielle Martinet, John F. Bateman, Dan Belluoccio, Lynn Rowley, Tiong Yang Tan, A Baxová, Karl‐Henrik Gustavson, Zvi Borochowitz, A. Micheil Innes, Sheila Unger, J. Beckmann, Lauréane Mittaz, Diana Ballhausen, Andrea Superti‐Furga, Ravi Savarirayan, Luisa Bonafé

    出版 2009
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  20. 20
    Intellectual disability associated with a homozygous missense mutation in THOC6

    Intellectual disability associated with a homozygous missense mutation in THOC6 由 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

    出版 2013
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