Torthaí cuardaigh - Susan Blasér

Beachtaigh na torthaí
  1. 1
    Neurological complications of cardio‐facio‐cutaneous syndrome

    Neurological complications of cardio‐facio‐cutaneous syndrome de réir Grace Yoon, Jodine Rosenberg, Susan Blasér, Katherine A. Rauen

    Foilsithe / Cruthaithe 2007
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  2. 2
    Corpus callosum abnormalities: neuroradiological and clinical correlations

    Corpus callosum abnormalities: neuroradiological and clinical correlations de réir Aqeela AlHashim, Susan Blasér, Charles Raybaud, Daune MacGregor

    Foilsithe / Cruthaithe 2015
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  3. 3
    Revisiting Imaging Features and the Embryologic Basis of Third and Fourth Branchial Anomalies

    Revisiting Imaging Features and the Embryologic Basis of Third and Fourth Branchial Anomalies de réir Bejoy Thomas, Manohar Shroff, Vito Forte, Susan Blasér, Adrian L. James

    Foilsithe / Cruthaithe 2009
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  4. 4
    Arginase I deficiency: Severe infantile presentation with hyperammonemia: More common than reported?

    Arginase I deficiency: Severe infantile presentation with hyperammonemia: More common than reported? de réir Shailly Jain‐Ghai, Sandesh C.S. Nagamani, Susan Blasér, Komudi Siriwardena, Annette Feigenbaum

    Foilsithe / Cruthaithe 2011
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  5. 5
    Long QT, syndactyly, joint contractures, stroke and novel <i>CACNA1C</i> mutation: Expanding the spectrum of Timothy syndrome

    Long QT, syndactyly, joint contractures, stroke and novel <i>CACNA1C</i> mutation: Expanding the spectrum of Timothy syndrome de réir Jane Gillis, Elena Burashnikov, Charles Antzelevitch, Susan Blasér, Gil J. Gross, Lesley Turner, Riyana Babul‐Hirji, David Chitayat

    Foilsithe / Cruthaithe 2011
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  6. 6
    Evaluation of Subcortical White Matter and Deep White Matter Tracts in Malformations of Cortical Development

    Evaluation of Subcortical White Matter and Deep White Matter Tracts in Malformations of Cortical Development de réir Elysa Widjaja, Susan Blaser, Elka Miller, Andrea Kassner, Patrick Shannon, Sylvester H. Chuang, O. Carter Snead, Charles R. Raybaud

    Foilsithe / Cruthaithe 2007
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  7. 7
    Neonatal neuroimaging findings in inborn errors of metabolism

    Neonatal neuroimaging findings in inborn errors of metabolism de réir Andrea Poretti, Susan Blasér, Maarten H. Lequin, Ali Fatemi, Avner Meoded, Frances J. Northington, Eugen Boltshauser, Thierry A.G.M. Huisman

    Foilsithe / Cruthaithe 2012
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  8. 8
    Cerebral oxygen delivery is reduced in newborns with congenital heart disease

    Cerebral oxygen delivery is reduced in newborns with congenital heart disease de réir Jessie Mei Lim, Theodore Kingdom, Brahmdeep S. Saini, Vann Chau, Martin Post, Susan Blasér, Christopher K. Macgowan, Steven P. Miller, Mike Seed

    Foilsithe / Cruthaithe 2016
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  9. 9
    The Natural History of Juvenile or Subacute GM2 Gangliosidosis: 21 New Cases and Literature Review of 134 Previously Reported

    The Natural History of Juvenile or Subacute GM2 Gangliosidosis: 21 New Cases and Literature Review of 134 Previously Reported de réir Gustavo Maegawa, Tracy Stockley, Michael B. Tropak, Brenda Banwell, Susan Blasér, Fernando Kok, Roberto Giugliani, Don J. Mahuran, Joe T.R. Clarke

    Foilsithe / Cruthaithe 2006
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  10. 10
    Imaging Patterns Characterizing Mitochondrial Leukodystrophies

    Imaging Patterns Characterizing Mitochondrial Leukodystrophies de réir Stefan D. Roosendaal, Tim van de Brug, César Augusto Pinheiro Ferreira Alves, Susan Blasér, Adeline Vanderver, Nicole I. Wolf, Marjo S. van der Knaap

    Foilsithe / Cruthaithe 2021
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  11. 11
    Pilomyxoid Astrocytoma: Expanding the Imaging Spectrum

    Pilomyxoid Astrocytoma: Expanding the Imaging Spectrum de réir Luke L. Linscott, Anne G. Osborn, Susan Blasér, Maurício Castillo, R. H. Hewlett, Nicky Wieselthaler, Steven S. Chin, Jostein Kråkenes, Gary L. Hedlund, Curtis L. Sutton

    Foilsithe / Cruthaithe 2008
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  12. 12
    Magnetic resonance imaging pattern recognition in hypomyelinating disorders

    Magnetic resonance imaging pattern recognition in hypomyelinating disorders de réir Marjan E. Steenweg, Adeline Vanderver, Susan Blasér, Alberto Bizzi, Tom J. de Koning, Grazia M.S. Mancini, Wessel N. van Wieringen, Frederik Barkhof, Nicole I. Wolf, Marjo S. van der Knaap

    Foilsithe / Cruthaithe 2010
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  13. 13
    Interplay of brain structure and function in neonatal congenital heart disease

    Interplay of brain structure and function in neonatal congenital heart disease de réir Ala Birca, Vasily A. Vakorin, Prashob Porayette, Sujana Madathil, Vann Chau, Mike Seed, Sam M. Doesburg, Susan Blasér, Dragos A. Nita, Rohit Sharma, Emma G. Duerden, Edward Hickey, Steven P. Miller, Cecil D. Hahn

    Foilsithe / Cruthaithe 2016
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  14. 14
    Associations Between Age at Arterial Switch Operation, Brain Growth, and Development in Infants With Transposition of the Great Arteries

    Associations Between Age at Arterial Switch Operation, Brain Growth, and Development in Infants With Transposition of the Great Arteries de réir Jessie Mei Lim, Prashob Porayette, Davide Marini, Vann Chau, Stephanie H. Au‐Young, Amandeep Saini, Linh Ly, Susan Blasér, Manohar Shroff, Helen M. Branson, Renée Sananes, Edward Hickey, J. William Gaynor, Glen Van Arsdell, Steven P. Miller, Mike Seed

    Foilsithe / Cruthaithe 2019
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  15. 15
    Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

    Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy de réir Sietske H. Kevelam, Marianna Bugiani, Gajja S. Salomons, Annette Feigenbaum, Susan Blasér, Chitra Prasad, Johannes Häberle, Ivo Barić, Ingrid Bakker, Nienke L. Postma, Warsha A. Kanhai, Nicole I. Wolf, Truus E. M. Abbink, Quinten Waisfisz, Peter Heutink, Marjo S. van der Knaap

    Foilsithe / Cruthaithe 2013
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  16. 16
    Brain Injury in Infants with Critical Congenital Heart Disease: Insights from Two Clinical Cohorts with Different Practice Approaches

    Brain Injury in Infants with Critical Congenital Heart Disease: Insights from Two Clinical Cohorts with Different Practice Approaches de réir Nathalie H.P. Claessens, Vann Chau, Linda S. de Vries, Nicolaas J. G. Jansen, Stephanie H. Au‐Young, Raymond Stegeman, Susan Blasér, Manohar Shroff, Felix Haas, Davide Marini, Johannes M. P. J. Breur, Mike Seed, Manon J.N.L. Benders, Steven P. Miller

    Foilsithe / Cruthaithe 2019
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  17. 17
    Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome

    Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome de réir Karen Buysse, Moniek Riemersma, Gareth T. Powell, Jeroen van Reeuwijk, David Chitayat, Tony Roscioli, Erik‐Jan Kamsteeg, Christa van den Elzen, Ellen van Beusekom, Susan Blasér, Riyana Babul‐Hirji, W Halliday, Gavin J. Wright, Derek L. Stemple, Yung‐Yao Lin, Dirk J. Lefeber, Hans van Bokhoven

    Foilsithe / Cruthaithe 2013
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  18. 18
    <i>PMPCA</i>mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

    <i>PMPCA</i>mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia de réir Rebekah Jobling, Mirna Assoum, Oleksandr Gakh, Susan Blasér, Julian Raiman, Cyril Mignot, Emmanuel Roze, Alexandra Dürr, Alexis Brice, Nicolas Lévy, Chitra Prasad, Tara Paton, Andrew D. Paterson, Nicole M. Roslin, Christian R. Marshall, Jean-Pierre Desvignes, Nathalie Roëckel-Trevisiol, Stephen W. Scherer, Guy A. Rouleau, André Mégarbané, Grazia Isaya, Valérie Delague, Grace Yoon

    Foilsithe / Cruthaithe 2015
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  19. 19
    Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

    Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity de réir Ryan J. Taft, Adeline Vanderver, Richard J. Leventer, Stephen A. Damiani, Cas Simons, Sean M. Grimmond, David S. Miller, Johanna Schmidt, Paul J. Lockhart, Kate Pope, Kelin Ru, Joanna Crawford, Tena Rosser, I.F.M. de Coo, Monica Juneja, I. C. Verma, Prab Prabhakar, Susan Blasér, Julian Raiman, Petra J. W. Pouwels, Marianna R. Bevova, Truus E. M. Abbink, Marjo S. van der Knaap, Nicole I. Wolf

    Foilsithe / Cruthaithe 2013
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  20. 20
    Neurodegenerative <i>VPS41</i> variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

    Neurodegenerative <i>VPS41</i> variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation de réir Reini E.N. van der Welle, Rebekah Jobling, Christian Burns, Paolo Sanzà, Jan van der Beek, Alfonso Fasano, Lan Chen, Fried 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 Blasér, Carolina Sepulveda, Andrés M. Lozano, Grace Yoon, Teresa Santiago‐Sim, Cédric S. Asensio, Guy A. Caldwell, Kim A. Caldwell, David Chitayat, Judith Klumperman

    Foilsithe / Cruthaithe 2021
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