Хайлтын үр дүнгүүд - Joline Dalton

  • 13-н 1 - 13 үр дүнгүүдийг харуулж байна
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  1. 1
    Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation

    Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation -н Michelle Trudeau, Joline Dalton, John Day, Laura P.W. Ranum, Miriam H. Meisler

    Хэвлэсэн 2005
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    Carta
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  2. 2
    Insulin Receptor Splicing Alteration in Myotonic Dystrophy Type 2

    Insulin Receptor Splicing Alteration in Myotonic Dystrophy Type 2 -н Rajesh S. Savkur, Anne V. Philips, Thomas A. Cooper, Joline Dalton, Melinda L. Moseley, Laura P.W. Ranum, John Day

    Хэвлэсэн 2004
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    Artigo
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  3. 3
    Myotonic Dystrophy Type 2: Human Founder Haplotype and Evolutionary Conservation of the Repeat Tract

    Myotonic Dystrophy Type 2: Human Founder Haplotype and Evolutionary Conservation of the Repeat Tract -н Christina L. Liquori, Yoshio Ikeda, Marcy R. Weatherspoon, K. Ricker, Benedikt Schoser, Joline Dalton, John Day, Laura P.W. Ranum

    Хэвлэсэн 2003
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    Artigo
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  4. 4
    Cerebral and muscle MRI abnormalities in myotonic dystrophy

    Cerebral and muscle MRI abnormalities in myotonic dystrophy -н Daniel Franc, Ryan L. Muetzel, Paul R. Robinson, Craig P. Rodriguez, Joline Dalton, C. Naughton, Bryon A. Mueller, Jeffrey R. Wozniak, Kelvin O. Lim, John Day

    Хэвлэсэн 2012
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    Artigo
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  5. 5
    A focal domain of extreme demethylation within D4Z4 in FSHD2

    A focal domain of extreme demethylation within D4Z4 in FSHD2 -н Lynn M. Hartweck, Lindsey Anderson, Richard J.L.F. Lemmers, Abhijit Dandapat, Erik A. Toso, Joline Dalton, Rabi Tawil, John Day, Silvère M. van der Maarel, Michael Kyba

    Хэвлэсэн 2013
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    Artigo
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  6. 6
    Spinocerebellar Ataxia Type 8: Molecular Genetic Comparisonsand Haplotype Analysis of 37 Families with Ataxia

    Spinocerebellar Ataxia Type 8: Molecular Genetic Comparisonsand Haplotype Analysis of 37 Families with Ataxia -н Yoshio Ikeda, Joline Dalton, Melinda L. Moseley, Kathy Gardner, Thomas D. Bird, Tetsuo Ashizawa, William Seltzer, Massimo Pandolfo, Aubrey Milunsky, Nicholas T. Potter, Mikio Shoji, John B. Vincent, John Day, Laura P.W. Ranum

    Хэвлэсэн 2004
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    Artigo
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  7. 7
    MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain

    MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain -н Marianne Goodwin, Apoorva Mohan, Ranjan Batra, Kuang‐Yung Lee, Konstantinos Charizanis, Francisco-José Fernández-Gómez, Sabiha Eddarkaoui, Nicolas Sergeant, Luc Buée, Takashi Kimura, H. Brent Clark, Joline Dalton, Kenji Takamura, Sebastien M. Weyn‐Vanhentenryck, Chaolin Zhang, Tammy Reid, Laura P.W. Ranum, John Day, Maurice S. Swanson

    Хэвлэсэн 2015
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    Artigo
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  8. 8
    Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

    Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort -н Kevin M. Flanigan, Diane M. Dunn, Andrew von Niederhausern, Payam Soltanzadeh, Eduard Gappmaier, Michael Howard, Jacinda B. Sampson, Jerry R. Mendell, Cheryl Wall, Wendy King, Alan Pestronk, Julaine Florence, Anne M. Connolly, Katherine D. Mathews, Carrie Stephan, Karla S. Laubenthal, Brenda Wong, P. Morehart, Amy Meyer, Richard S. Finkel, Carsten G. Bönnemann, Līvija Medne, John Day, Joline Dalton, Marcia K. Margolis, Veronica J. Hinton, Robert B. Weiss

    Хэвлэсэн 2009
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    Artigo
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  9. 9
    De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

    De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental de... -н Anne Slavotinek, Maurizio Risolino, Marta Losa, Megan T. Cho, Kristin G. Monaghan, Dina Schneidman‐Duhovny, Sarah Parisotto, Johanna C. Herkert, Alexander P.A. Stegmann, Kathryn Miller, Natasha Shur, Jacqueline Chui, Eric Muller, Suzanne D. DeBrosse, Justin O. Szot, Gavin Chapman, Nicholas Pachter, David S. Winlaw, Bryce A. Mendelsohn, Joline Dalton, Kyriakie Sarafoglou, Peter Karachunski, Jane M. Lewis, Hélio Pedro, Sally L. Dunwoodie, Licia Selleri, Joseph T.C. Shieh

    Хэвлэсэн 2017
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    Artigo
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  10. 10
    Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network

    Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network -н Anne M. Connolly, Julaine Florence, Mary Michaeleen Cradock, Elizabeth C. Malkus, Jeanine Schierbecker, Catherine Siener, Charlie Wulf, Pallavi Anand, Paul T. Golumbek, Craig M. Zaidman, J. Philip Miller, Linda Lowes, Lindsay N. Alfano, L. Viollet-Callendret, Kevin M. Flanigan, Jerry R. Mendell, Craig M. McDonald, Erica Goude, Linda B. Johnson, Alina Nicorici, Peter Karachunski, John Day, Joline Dalton, J.M. Farber, Karen K. Buser, Basil T. Darras, Peter B. Kang, Susan Riley, Elizabeth Shriber, Rebecca Parad, Kate Bushby, Michelle Eagle

    Хэвлэсэн 2013
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    Artigo
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  11. 11
    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants -н Jennifer N. Dines, Katie Golden‐Grant, Amy Lacroix, Alison M. Muir, Dianne Laboy Cintrón, Kirsty McWalter, Megan T. Cho, Angela Sun, J. Lawrence Merritt, Jenny Thies, Dmitriy Niyazov, Barbara K. Burton, Katherine Kim, Leah R. Fleming, Rachel Westman, Peter Karachunski, Joline Dalton, Alice Basinger, Can Fıçıcıoğlu, Ingo Helbig, Manuela Pendziwiat, Hiltrud Muhle, Katherine L. Helbig, Almuth Caliebe, René Santer, Kolja Becker, Sharon F. Suchy, Ganka Douglas, Francisca Millan, Amber Begtrup, Kristin G. Monaghan, Heather C. Mefford

    Хэвлэсэн 2018
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    Artigo
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  12. 12
    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures -н Slavé Petrovski, Sébastien Küry, Candace T. Myers, Kwame Anyane‐Yeboa, Benjamin Cogné, Martin G. Bialer, Fan Xia, Parisa Hemati, James J. Riviello, Michele G. Mehaffey, Thomas Besnard, Emily Becraft, Alexandrea Wadley, Anya Revah Politi, Sophie Colombo, Xiaolin Zhu, Zhong Ren, Ian Andrews, Tracy Dudding‐Byth, Amy L. Schneider, Geoffrey Wallace, Aaron B.I. Rosen, Susan Schelley, Gregory M. Enns, Pierre Corre, Joline Dalton, Sandra Mercier, Xénia Latypova, Sébastien Schmitt, Edwin R. Guzman, Christine Moore, Louise Bier, Erin L. Heinzen, Peter Karachunski, Natasha Shur, Theresa A. Grebe, Alice Basinger, Joanne Nguyen, Stéphane Bézieau, Klaas J. Wierenga, Jonathan A. Bernstein, Ingrid E. Scheffer, Jill A. Rosenfeld, Heather C. Mefford, Bertrand Isidor, David B. Goldstein

    Хэвлэсэн 2016
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    Artigo
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  13. 13
    MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

    MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement -н Sandra Donkervoort, Rasha Sabouny, Pomi Yun, Laurence Gauquelin, Katherine R. Chao, Ying Hu, Iman Al Khatib, Ana Töpf, Payam Mohassel, Beryl B. Cummings, Rupleen Kaur, Dimah Saade, Steven A. Moore, Leigh B. Waddell, Michelle A. Farrar, Julia K. Goodrich, Prech Uapinyoying, H.S. Chan, Asif Javed, M. Leach, Peter Karachunski, Joline Dalton, L. Medne, A. Harper, Caroline A. Thompson, Isabelle Thiffault, Sabine Specht, Ryan E. Lamont, Carol Saunders, Hilary Racher, François Bernier, David Mowat, Nanna Witting, John Vissing, Ronald K. Hanson, Keith A. Coffman, Meagan K. Hainlen, Jillian S. Parboosingh, Amanda Carnevale, Grace Yoon, Rhonda E. Schnur, KM Boycott, Jean K. Mah, Volker Straub, A. Reghan Foley, A. Micheil Innes, Carsten G. Bönnemann, Timothy E. Shutt

    Хэвлэсэн 2019
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    Artigo
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