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Results 1 - 10 of 11  for Great Falls College MSU

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STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility
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Article
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STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

Zaharieva, Irina T ; Sarkozy, Anna ; Munot, Pinki ; Manzur, Adnan ; O'Grady, Gina ; Rendu, John ; Malfatti, Eduardo ; Amthor, Helge ; Servais, Laurent ; Urtizberea, J. Andoni ; Neto, Osorio Abath ; Zanoteli, Edmar ; Donkervoort, Sandra ; Taylor, Juliet ; Dixon, Joanne ; Poke, Gemma ; Foley, A. Reghan ; Holmes, Chris ; Williams, Glyn ; Holder, Muriel ; Yum, Sabrina ; Medne, Livija ; Quijano-Roy, Susana ; Romero, Norma B ; Fauré, Julien ; Feng, Lucy ; Bastaki, Laila ; Davis, Mark R ; Phadke, Rahul ; Sewry, Caroline A ; Bönnemann, Carsten G ; Jungbluth, Heinz ; Bachmann, Christoph ; Treves, Susan ; Muntoni, Francesco

Human mutation, 2018, Vol.39 (12), p.1980-1994 [Peer Reviewed Journal]

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STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility
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Article
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STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

Zaharieva, IT ; Sarkozy, A ; Munot, P ; Manzur, A ; O'Grady, G ; Rendu, J ; Malfatti, E ; Amthor, H ; Servais, L ; Urtizberea, JA ; Neto, OA ; Zanoteli, E ; Donkervoort, S ; Taylor, J ; Dixon, J ; Poke, G ; Foley, AR ; Holmes, C ; Williams, G ; Holder, M ; Yum, S ; Medne, L ; Quijano-Roy, S ; Romero, NB ; Fauré, J ; Feng, L ; Bastaki, L ; Davis, MR ; Phadke, R ; Sewry, CA ; Bönnemann, CG ; Jungbluth, H ; Bachmann, C ; Treves, S ; Muntoni, F 2018

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3
Reports Summarize Myopathy Findings from I.T. Zaharieva and Co-Authors (STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility)
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Reports Summarize Myopathy Findings from I.T. Zaharieva and Co-Authors (STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility)

Health & Medicine Week, 2018-12-21, p.4634

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4
Reports Outline Myopathy Study Results from University College London Great Ormond Street Institute of Child Health (STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility)
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5
Myopathy; Reports Summarize Myopathy Findings from I.T. Zaharieva and Co-Authors (STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility)
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Newspaper Article
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Myopathy; Reports Summarize Myopathy Findings from I.T. Zaharieva and Co-Authors (STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility)

Health & medicine week, 2018-12-21, p.4634

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6
Myopathy; Reports Outline Myopathy Study Results from University College London Great Ormond Street Institute of Child Health (STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility)
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Newspaper Article
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7
STAC3variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility
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Article
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STAC3variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

Zaharieva, Irina T ; Sarkozy, Anna ; Munot, Pinki ; Manzur, Adnan ; O'Grady, Gina ; Rendu, John ; Malfatti, Eduardo ; Amthor, Helge ; Servais, Laurent ; Urtizberea, J. Andoni ; Neto, Osorio Abath ; Zanoteli, Edmar ; Donkervoort, Sandra ; Taylor, Juliet ; Dixon, Joanne ; Poke, Gemma ; Foley, A. Reghan ; Holmes, Chris ; Williams, Glyn ; Holder, Muriel ; Yum, Sabrina ; Medne, Livija ; Quijano-Roy, Susana ; Romero, Norma B ; Fauré, Julien ; Feng, Lucy ; Bastaki, Laila ; Davis, Mark R ; Phadke, Rahul ; Sewry, Caroline A ; Bönnemann, Carsten G ; Jungbluth, Heinz ; Bachmann, Christoph ; Treves, Susan ; Muntoni, Francesco

Human mutation, 2018-12, Vol.39 (12), p.1980-1994 [Peer Reviewed Journal]

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8
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome
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Article
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Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome

Telegrafi, Aida ; Webb, Bryn D ; Robbins, Sarah M ; Speck-Martins, Carlos E ; FitzPatrick, David ; Fleming, Leah ; Redett, Richard ; Dufke, Andreas ; Houge, Gunnar ; van Harssel, Jeske J. T ; Verloes, Alain ; Robles, Angela ; Manoli, Irini ; Engle, Elizabeth C ; Jabs, Ethylin W ; Valle, David ; Carey, John ; Hoover-Fong, Julie E ; Sobreira, Nara L. M

American journal of medical genetics. Part A, 2017, Vol.173 (10), p.2763-2771 [Peer Reviewed Journal]

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9
Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1 , CACNA1S and STAC3 variants
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Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1 , CACNA1S and STAC3 variants

Sadhasivam, Senthilkumar ; Brandom, Barbara W ; Henker, Richard A ; McAuliffe, John J

Pharmacogenomics, 2019-09, Vol.20 (14), p.989-1003 [Peer Reviewed Journal]

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10
Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction
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Article
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Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction

Jungbluth, Heinz ; Treves, Susan ; Zorzato, Francesco ; Sarkozy, Anna ; Ochala, Julien ; Sewry, Caroline ; Phadke, Rahul ; Gautel, Mathias ; Muntoni, Francesco

Nature reviews. Neurology, 2018, Vol.14 (3), p.151-167 [Peer Reviewed Journal]

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Results 1 - 10 of 11  for Great Falls College MSU

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