Rezultaty - Irina Anselm

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  1. 1
    A modern approach to the treatment of mitochondrial disease

    A modern approach to the treatment of mitochondrial disease od Sumit Parikh, Russell P. Saneto, Marni J. Falk, Irina Anselm, Bruce H. Cohen, Richard Haas

    Wydane 2009
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  2. 2
    X‐linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype

    X‐linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype od Irina Anselm, Fowzan S. Alkuraya, Gajja S. Salomons, C. Jakobs, A. Fulton, Maitreyi Mazumdar, Michael J. Rivkin, Richard E. Frye, Tina Young Poussaint, Deborah Marsden

    Wydane 2006
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  3. 3
    <i>AIFM1</i> mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant

    <i>AIFM1</i> mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant od Sarah U. Morton, Sanjay P. Prabhu, Hart G.W. Lidov, Jiahai Shi, Irina Anselm, Catherine A. Brownstein, Matthew N. Bainbridge, Alan H. Beggs, Sara O. Vargas, Pankaj B. Agrawal

    Wydane 2017
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  4. 4
    A therapeutic trial of pro‐methylation dietary supplements in Angelman syndrome

    A therapeutic trial of pro‐methylation dietary supplements in Angelman syndrome od Lynne M. Bird, Wen‐Hann Tan, Carlos A. Bacino, Sarika U. Peters, Steven A. Skinner, Irina Anselm, Rene Barbieri‐Welge, Astrid Bauer‐Carlin, Jennifer Gentile, Daniel G. Glaze, Lucia T. Horowitz, Kriti Mohan, Mark Nespeca, Trilochan Sahoo, Dean Sarco, Susan E. Waisbren, Arthur L. Beaudet

    Wydane 2011
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  5. 5
    Angelman syndrome: Mutations influence features in early childhood

    Angelman syndrome: Mutations influence features in early childhood od Wen‐Hann Tan, Carlos A. Bacino, Steven A. Skinner, Irina Anselm, Rene Barbieri‐Welge, Astrid Bauer‐Carlin, Arthur L. Beaudet, Terry Jo Bichell, Jennifer Gentile, Daniel G. Glaze, Lucia T. Horowitz, Sanjeev V. Kothare, Hye‐Seung Lee, Mark Nespeca, Sarika U. Peters, Trilochan Sahoo, Dean Sarco, Susan E. Waisbren, Lynne M. Bird

    Wydane 2010
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  6. 6
    Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

    Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society od Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell P. Saneto, Irina Anselm, Bruce H. Cohen, Marni J. Falk, Carol L. Greene, Andrea Gropman, Richard Haas, Michio Hirano, Philip G. Morgan, Katherine B. Sims, Mark A. Tarnopolsky, Johan L.K. Van Hove, Lynne A. Wolfe, Salvatore DiMauro

    Wydane 2014
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  7. 7
    Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region

    Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region od McKenna Kelly, Meredith Park, Ivana Mihalek, Anne Rochtus, Marie Gramm, Eduardo Pérez‐Palma, Erika Axeen, Christina Hung, Heather E. Olson, Lindsay C. Swanson, Irina Anselm, Lauren C. Briere, Frances A. High, David A. Sweetser, Saima Kayani, Molly Snyder, Sophie Calvert, Ingrid E. Scheffer, Edward Yang, Jeff L. Waugh, Dennis Lal, Olaf A. Bodamer, Annapurna Poduri

    Wydane 2019
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  8. 8
    Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

    Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders od David T. Miller, Yiping Shen, Lauren A. Weiss, Joshua M. Korn, Irina Anselm, Carolyn Bridgemohan, Gerald F. Cox, Helen Dickinson, James E. Gentile, David J. Harris, Vishwajit Hegde, Rachel J. Hundley, Omar Khwaja, Sanjeev V. Kothare, Christina Luedke, Ramzi Nasir, Annapurna Poduri, Konasale M. Prasad, Peter Raffalli, Antoine Reinhard, Stephen Smith, Magdi M. Sobeih, Janet S. Soul, Joan M. Stoler, Masanori Takeoka, Wen‐Hann Tan, Joseph V. Thakuria, Robert R. Wolff, RAMIL I. YUSUPOV, James F. Gusella, Mark J. Daly, B-L Wu

    Wydane 2008
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  9. 9
    Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

    Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society od Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel‐Guitton, John Christodoulou, Bruce H. Cohen, David Dimmock, Gregory M. Enns, Marni J. Falk, Annette Feigenbaum, Richard E. Frye, Jaya Ganesh, David A. Griesemer, Richard Haas, Rita Horváth, Mark Korson, Michael C. Kruer, Michelangelo Mancuso, Shana E. McCormack, Marie Josée Raboisson, Tyler Reimschisel, Ramona Salvarinova, Russell P. Saneto, Fernando Scaglia, John M. Shoffner, Peter W. Stacpoole, Carolyn M. Sue, Mark A. Tarnopolsky, Clara van Karnebeek, Lynne A. Wolfe, Zarazuela Zolkipli Cunningham, Shamima Rahman, Patrick F. Chinnery

    Wydane 2017
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  10. 10
    De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

    De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism od María J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti, Cara Forster, E. Hallie Andrew, Irina Anselm, Kristin Barañano, Lauren C. Briere, Julie S. Cohen, William J. Craigen, Cheryl Cytrynbaum, Nina Ekhilevitch, Matthew J. Elrick, Ali Fatemi, Jamie L. Fraser, Renata C. Gallagher, Andrea Guerin, Devon Haynes, Frances A. High, Cara Inglese, Courtney Kiss, Mary Kay Koenig, Joel B. Krier, Kristin Lindstrom, Michael Marble, Hannah Meddaugh, Ellen Moran, Chantal F. Morel, Weiyi Mu, Eric Muller, Jessica Nance, Marvin R. Natowicz, Adam L. Numis, Bridget Ostrem, John Pappas, Carl E. Stafstrom, Haley Streff, David A. Sweetser, Marta Szybowska, Melissa Walker, Wei Wang, Karin Weiss, Rosanna Weksberg, Patricia G. Wheeler, Grace Yoon, Robert E. Kingston, Jane Juusola

    Wydane 2020
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  11. 11
    Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

    Phenotype and genotype in 101 males with X-linked creatine transporter deficiency od Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu, Lara Abulhoul, Stephanie Grünewald, Irina Anselm, Hatem Azzouz, Drago Bratkovic, Arjan de Brouwer, Ben C.J. Hamel, Tjitske Kleefstra, Helger G. Yntema, Jaume Campistol, Marta Vilaseca, David Cheillan, Marc D’Hooghe, Luísa Diogo, Paula Garcia, Carla Valongo, Maria José Fonseca, Suzanna G.M. Frints, Bridget Wilcken, Sigrun von der Haar, Hanne Meijers‐Heijboer, Floris C. Hofstede, Diana Johnson, Sarina G. Kant, Laurence Lion‐François, G. Pitelet, Nicola Longo, J A Maat-Kievit, João Monteiro, Arnold Münnich, Ania C. Muntau, Marie‐Cécile Nassogne, Hitoshi Osaka, Katrin Õunap, Jean-Marc Pinard, Susana Quijano‐Roy, I Poggenburg, Nicola Poplawski, Omar Abdul‐Rahman, Antònia Ribes, Ángela Arias, Joy Yaplito‐Lee, Andreas Schulze, Charles E. Schwartz, Susanne Schwenger, G. Soares, Yves Sznajer, Vassili Valayannopoulos, Hilde Van Esch, Stephan Waltz, Mirjam M. C. Wamelink, Petra J. W. Pouwels, Abdellatif Errami, Marjo S. van der Knaap, C. Jakobs, Grazia M.S. Mancini, Gajja S. Salomons

    Wydane 2013
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  12. 12
    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders od Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E.L.M. Vissers, Magnus Nordenskjöld, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gécz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep S. Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celanie K. Christensen, Kerry White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch‐Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, R. Frank Kooy, Marije Meuwissen, Alice Basinger, Mary K. Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond‐Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, Elena Lopez‐Rangel, Paul A. Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie M. Vento, Divya Vats, L. Manace Benman, Shane McKee, Ghayda Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen Simon, Koen L.I. van Gassen, Kara Simpson, Robert F. Stratton, Shakir Syed, Julien Thévenon, Irene Valenzuela, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, John Acampado, J. Andrea, Alpha Amatya, Irina Astrovskaya, Asif Bashar, Elizabeth Brooks

    Wydane 2021
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