檢索結果 - Michael T. Geraghty

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  1. 1
    Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia

    Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia 由 Michael T. Geraghty

    出版 1998
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  2. 2
    Hemin Control of Globin Synthesis

    Hemin Control of Globin Synthesis 由 Michael L. Freedman, Michael T. Geraghty, Judith Rosman

    出版 1974
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  3. 3
    Identification of Peroxisomal Acyl-CoA Thioesterases in Yeast and Humans

    Identification of Peroxisomal Acyl-CoA Thioesterases in Yeast and Humans 由 Jacob M. Jones, Katja Nau, Michael T. Geraghty, Ralf Erdmann, Stephen J. Gould

    出版 1999
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  4. 4
    Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome

    Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome 由 Peter C. Rowe, Diana F. Barron, Hugh Calkins, Irene H. Maumenee, Patrick Tong, Michael T. Geraghty

    出版 1999
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  5. 5
    Cobalamin C defect associated with hemolytic-uremic syndrome

    Cobalamin C defect associated with hemolytic-uremic syndrome 由 Michael T. Geraghty, Elizabeth J. Perlman, Laura Martin, Susan J. Hayflick, James F. Casella, David S. Rosenblatt, David Valle

    出版 1992
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  6. 6
    Multiple Molecular Mechanisms Underlying Subdiagnostic Variants of Marfan Syndrome

    Multiple Molecular Mechanisms Underlying Subdiagnostic Variants of Marfan Syndrome 由 Robert A. Montgomery, Michael T. Geraghty, Evelyn Bull, Bruce D. Gelb, Maureen Johnson, Iain McIntosh, Clair A. Francomano, Harry C. Dietz

    出版 1998
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  7. 7
    Identification of the α-Aminoadipic Semialdehyde Synthase Gene, Which Is Defective in Familial Hyperlysinemia

    Identification of the α-Aminoadipic Semialdehyde Synthase Gene, Which Is Defective in Familial Hyperlysinemia 由 Katherine A. Sacksteder, Barbara J. Biery, James C. Morrell, Barbara K. Goodman, Brian V. Geisbrecht, Rody P. Cox, Stephen J. Gould, Michael T. Geraghty

    出版 2000
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  8. 8
    Utility of Oligonucleotide Array–Based Comparative Genomic Hybridization for Detection of Target Gene Deletions

    Utility of Oligonucleotide Array–Based Comparative Genomic Hybridization for Detection of Target Gene Deletions 由 Lee‐Jun C. Wong, David Dimmock, Michael T. Geraghty, Richard Quan, Uta Lichter‐Konecki, Jing Wang, Ellen K. Brundage, Fernando Scaglia, A. Craig Chinault

    出版 2008
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  9. 9
    Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene,<i>PPP1R15B</i>, is associated with severe microcephaly, short stature and intellectual disability

    Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene,<i>PPP1R15B</i>, is associated with severe microcephaly, short stature and intellectual... 由 Kristin D. Kernohan, Martine Tétreault, Urszula Liwak, Michael T. Geraghty, Wen Qin, Sunita Venkateswaran, Jorge Dávila, Martin Holčı́k, Jacek Majewski, Julie Richer, Kym M. Boycott

    出版 2015
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  10. 10
    Congenital sucrase–isomaltase deficiency: identification of a common Inuit founder mutation

    Congenital sucrase–isomaltase deficiency: identification of a common Inuit founder mutation 由 Julien L. Marcadier, Margaret Boland, C. Ronald Scott, Kheirie Issa, Zaining Wu, Adam D. McIntyre, Robert A. Hegele, Michael T. Geraghty, Matthew A. Lines

    出版 2014
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  11. 11
    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 由 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

    出版 2014
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  12. 12
    Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease

    Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease 由 C Martins, Paula Frassinetti Vasconcelos de Medeiros, Sandra Leistner‐Segal, Larbi Dridi, Nursel Elçioğlu, Jill Wood, Mahdiyeh Behnam, Bilge Noyan, Lúcia Lacerda, Michael T. Geraghty, Damian Labuda, Roberto Giugliani, Alexey V. Pshezhetsky

    出版 2019
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  13. 13
    Back Cover, Volume 40, Issue 8

    Back Cover, Volume 40, Issue 8 由 C Martins, Paula Frassinetti Vasconcelos de Medeiros, Sandra Leistner‐Segal, Larbi Dridi, Nursel Elçioğlu, Chen Ji, Mahdiyeh Behnam, Bilge Noyan, Lúcia Lacerda, Michael T. Geraghty, Damian Labuda, Roberto Giugliani, Alexey V. Pshezhetsky

    出版 2019
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  14. 14
    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 由 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

    出版 2013
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  15. 15
    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 由 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

    出版 2012
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  16. 16
    Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

    Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency 由 Patricia Fitzsimons, Charlotte L. Alston, Penelope E. Bonnen, Joanne Hughes, Ellen Crushell, Michael T. Geraghty, Martine Tétreault, Peter M.R. O’Reilly, Eilish Twomey, Yusra Sheikh, Richard Walsh, Hans R. Waterham, Sacha Ferdinandusse, Ronald J. A. Wanders, Robert W. Taylor, James Pitt, Philip Mayne

    出版 2018
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  17. 17
    A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3

    A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3 由 Sheena Chew, Ravikumar Balasubramanian, Wai‐Man Chan, Peter B. Kang, Caroline Andrews, Bryn D. Webb, Sarah MacKinnon, Darren T. Oystreck, Jessica K. Rankin, Thomas O. Crawford, Michael T. Geraghty, Scott L. Pomeroy, William F. Crowley, Ethylin Wang Jabs, David G. Hunter, P. Ellen Grant, Elizabeth C. Engle

    出版 2013
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  18. 18
    A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

    A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) 由 Daniel H. Wiseman, Alison May, Stephen Jolles, Philip Connor, Colin Powell, Matthew M. Heeney, Patricia J. Giardina, Robert J. Klaassen, Pranesh Chakraborty, Michael T. Geraghty, Nathalie Major-Cook, Caroline Kannengiesser, Isabelle Thuret, Alexis A. Thompson, Lino Marques, Stephen Hughes, Denise Bonney, Sylvia S. Bottomley, Mark D. Fleming, Robert Wynn

    出版 2013
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  19. 19
    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 由 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

    出版 2016
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  20. 20
    Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

    Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia 由 Jessica L. Zambonin, Allison Bellomo, Hilla Ben‐Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy D. Harper, Julie R. Jones, Benjamin Kamien, Kristin D. Kernohan, Mary Kay Koenig, Matthew A. Lines, Elizabeth E. Palmer, Randal Richardson, Reeval Segel, Mark A. Tarnopolsky, Jason Vanstone, Melissa Gibbons, Abigail Collins, Brent L. Fogel, Tracy Dudding‐Byth, Kym M. Boycott

    出版 2017
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    Revisão
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