Rezultati - 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 od Michael T. Geraghty

    Izdano 1998
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  2. 2
    Hemin Control of Globin Synthesis

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

    Izdano 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 od Jacob M. Jones, Katja Nau, Michael T. Geraghty, Ralf Erdmann, Stephen J. Gould

    Izdano 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 od Peter C. Rowe, Diana F. Barron, Hugh Calkins, Irene H. Maumenee, Patrick Tong, Michael T. Geraghty

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

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

    Izdano 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 od Robert A. Montgomery, Michael T. Geraghty, Evelyn Bull, Bruce D. Gelb, Maureen Johnson, Iain McIntosh, Clair A. Francomano, Harry C. Dietz

    Izdano 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 od Katherine A. Sacksteder, Barbara J. Biery, James C. Morrell, Barbara K. Goodman, Brian V. Geisbrecht, Rody P. Cox, Stephen J. Gould, Michael T. Geraghty

    Izdano 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 od Lee‐Jun C. Wong, David Dimmock, Michael T. Geraghty, Richard Quan, Uta Lichter‐Konecki, Jing Wang, Ellen K. Brundage, Fernando Scaglia, A. Craig Chinault

    Izdano 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... od 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

    Izdano 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 od Julien L. Marcadier, Margaret Boland, C. Ronald Scott, Kheirie Issa, Zaining Wu, Adam D. McIntyre, Robert A. Hegele, Michael T. Geraghty, Matthew A. Lines

    Izdano 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 od 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

    Izdano 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 od 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

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

    Back Cover, Volume 40, Issue 8 od 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

    Izdano 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 od 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

    Izdano 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 od 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

    Izdano 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 od 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

    Izdano 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 od 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

    Izdano 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) od 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

    Izdano 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 od 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

    Izdano 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 od 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

    Izdano 2017
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