检索结果 - Alejandro Iglesias
- Showing 1 - 19 results of 19
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Human Dental Pulp Stem Cells and Gingival Mesenchymal Stem Cells Display Action Potential Capacity In Vitro after Neuronogenic Differentiation 由 Dong Li, Xiaoying Zou, Ikbale El-Ayachi, Luis O. Romero, Zongdong Yu, Alejandro Iglesias‐Linares, Julio F. Cordero-Morales, George T.‐J. Huang
出版 2018Artigo -
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Orthognathic surgery-related condylar resorption in patients with skeletal class III malocclusion versus class III malocclusion: a systematic review and meta-analysis 由 Maria Cristina Faria‐Teixeira, Francisco Azevedo Coutinho, David Faustino Ângelo, Rosa-María Yáñez-Vico, Francisco Salvado, António Vaz Carneiro, Alejandro Iglesias‐Linares
出版 2025Revisão -
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Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact 由 Julia Wynn, Ruth Ottman, J. Duong, Ashley Wilson, Priyanka Ahimaz, Josue Martinez, Rachel Rabin, EFREM ROSEN, Rachel Webster, C. Au, Megan T. Cho, Claire Egan, E Guzmán, Michelle Primiano, Jessica Shaw, Rebecca Sisson, Robert Klitzman, Paul S. Appelbaum, Uta Lichter‐Konecki, Kwame Anyane‐Yeboa, Alejandro Iglesias, Wendy K. Chung
出版 2017Artigo -
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Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots 由 Thaís Armangué, Joseph J. Orsini, Asako Takanohashi, Francesco Gavazzi, Alex Conant, Nicole Ulrick, Mark A. Morrissey, Norah Nahhas, Guy Helman, Heather Gordish‐Dressman, Simona Orcesi, Davide Tonduti, Chloe Stutterd, Keith Van Haren, Camilo Toro, Alejandro Iglesias, Marjo S. van der Knaap, Raphaela Goldbach Mansky, Anne B. Moser, Richard O. Jones, Adeline Vanderver
出版 2017Artigo -
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Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy 由 Thi Tuyet Mai Nguyen, Yoshiko Murakami, Kristen Wigby, Nissan Vida Baratang, Justine Rousseau, Anik St‐Denis, Jill A. Rosenfeld, Stephanie C. Laniewski, Julie R. Jones, Alejandro Iglesias, Marilyn C. Jones, Diane Masser‐Frye, Angela E. Scheuerle, Denise Perry, Ryan J. Taft, Françoise Le Deist, Miles D. Thompson, Taroh Kinoshita, Philippe M. Campeau
出版 2018Artigo -
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Newborn screening for Krabbe disease in New York State: the first eight years’ experience 由 Joseph J. Orsini, Denise M. Kay, Carlos A. Saavedra‐Matiz, David A. Wenger, Patricia K. Duffner, Richard W. Erbe, Chad K. Biski, Monica Martin, Lea M. Krein, Matthew Nichols, Joanne Kurtzberg, Maria L. Escolar, Darius J. Adams, Georgianne L. Arnold, Alejandro Iglesias, Patricia Galvin‐Parton, David F. Kronn, Jennifer M. Kwon, Paul A. Levy, Joan E. Pellegrino, Natasha Shur, Melissa Wasserstein, Michele Caggana
出版 2016Artigo -
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Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State 由 Melissa Wasserstein, Mary R. Andriola, Georgianne L. Arnold, Alan M. Aron, Patricia K. Duffner, Richard W. Erbe, Maria L. Escolar, Lissette Estrella, Patricia Galvin‐Parton, Alejandro Iglesias, Denise M. Kay, David F. Kronn, Joanne Kurtzberg, Jennifer M. Kwon, Thomas J. Langan, Paul A. Levy, Thomas P. Naidich, Joseph J. Orsini, Joan E. Pellegrino, James M. Provenzale, David A. Wenger, Michele Caggana
出版 2016Artigo -
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De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder 由 Lot Snijders Blok, Tjitske Kleefstra, Hanka Venselaar, Saskia M. Maas, Hester Y. Kroes, Augusta M.A. Lachmeijer, Koen L.I. van Gassen, Helen V. Firth, Susan Tomkins, Simon Bodek, Katrin Õunap, Monica H. Wojcik, Christopher Cunniff, Katherine Bergstrom, Zöe Powis, Sha Tang, Deepali N. Shinde, Catherine Au, Alejandro Iglesias, Kosuke Izumi, Jacqueline Leonard, Ahmad Abou Tayoun, Samuel W. Baker, Marco Tartaglia, Marcello Niceta, Maria Lisa Dentici, Nobuhiko Okamoto, Noriko Miyake, Naomichi Matsumoto, Antonio Vitobello, Laurence Faivre, Christophe Philippe, Christian Gilissen, Laurens Wiel, Rolph Pfundt, Pelagia Deriziotis, Han G. Brunner, Simon E. Fisher
出版 2019Artigo -
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Mutations in TOP3A Cause a Bloom Syndrome-like Disorder 由 Carol-Anne Martin, Kata Sarlós, Clare V. Logan, Roshan Singh Thakur, David Parry, Anna H. Bizard, Andrea Leitch, Louise Cleal, Nadia Shaukat Ali, Mohammed Al‐Owain, William Allen, Janine Altmüller, Miriam Aza‐Carmona, Bushra A.Y. Barakat, Jimena Barraza‐García, Amber Begtrup, Massimo Bogliolo, Megan T. Cho, Jaime Cruz‐Rojo, Hassan Ali Mundi Dhahrabi, Nursel Elçioğlu, Gráinne S. Gorman, Rebekah Jobling, Ian Kesterton, Yoshihito Kishita, Masakazu Kohda, Polona Le Quesne Stabej, Asam Jassim Malallah, Peter Nürnberg, Akira Ohtake, Yasushi Okazaki, Roser Pujol, Marı́a José Ramı́rez, Anya Revah‐Politi, Masaru Shimura, Paul E. Stevens, Robert W. Taylor, Lesley Turner, Hywel Williams, Carolyn M. Wilson, Gökhan Yigit, Laura Zahavich, Fowzan S. Alkuraya, Jordi Surrallés, Alejandro Iglesias, Kei Murayama, Bernd Wollnik, Mehul Dattani, Karen E. Heath, Ian D. Hickson, Andrew P. Jackson
出版 2018Artigo -
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Refining the phenotype associated with <i>GNB1</i> mutations: Clinical data on 18 newly identified patients and review of the literature 由 Parisa Hemati, Anya Revah‐Politi, Haim Bassan, Slavé Petrovski, Colleen G. Bilancia, Keri Ramsey, Nicole G. Griffin, Louise Bier, Megan T. Cho, Mónica Roselló, Sally Ann Lynch, Sophie Colombo, Astrid Weber, Marte G. Haug, Erin L. Heinzen, Tristan T. Sands, Vinodh Narayanan, Michelle Primiano, Vimla S. Aggarwal, Francisca Millan, Shannon G. Sattler‐Holtrop, Alfonso Caro‐Llopis, Nir Pillar, Janice Baker, Rebecca Freedman, Hester Y. Kroes, Stephanie Sacharow, Nicholas Stong, Pablo Lapunzina, Michael C. Schneider, Nancy J. Mendelsohn, Amanda Singleton, Valerie Loik Ramey, Karen Wou, Alla Kuzminsky, Sandra Monfort, Monika Weisz Hubshman, Samantha Doyle, Alejandro Iglesias, Francisco Martı́nez, F. Ellis McKenzie, Carmen Orellana, Koen L.I. van Gassen, María Palomares‐Bralo, Lily Bazak, Andy Lee, Ana Bircher, Lina Basel‐Vanagaite, Maria Hafström, Gunnar Houge, David B. Goldstein, Kwame Anyane‐Yeboa
出版 2018Revisão -
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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease 由 Daniel G. Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M. Fatih, Isabella Herman, Haowei Du, Tadahiro Mitani, Lore Becker, Birgit Rathkolb, Raffaele Gerlini, Claudia Seisenberger, Susan Marschall, Jill V. Hunter, Amanda Gerard, Alexis R. Heidlebaugh, Thomas D. Challman, Rebecca C. Spillmann, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Seema R. Lalani, Lingxiao Liu, Anya Revah‐Politi, Alejandro Iglesias, Edwin R. Guzman, Evan H. Baugh, Nathalie Boddaert, Sophie Rondeau, Clothide Ormieres, Giulia Barcia, Queenie K.‐G. Tan, Isabelle Thiffault, Tomi Pastinen, Kazim A. Sheikh, Suur Biliciler, Davide Mei, Federico Melani, Vandana Shashi, Yuval Yaron, Mary Steele, Emma Wakeling, Elsebet Østergaard, Lusine Nazaryan‐Petersen, Francisca Millan, Teresa Santiago‐Sim, Julien Thévenon, Ange‐Line Bruel, Christel Thauvin‐Robinet, Denny Popp, Konrad Platzer, Paweł Gawliński, Wojciech Wiszniewski, Dana Marafi, Davut Pehli̇van, Jennifer E. Posey, Richard A. Gibbs, Valérie Gailus‐Durner, Renzo Guerrini, Helmut Fuchs, Martin Hrabě de Angelis, Sabine M. Hölter, Hoi‐Hung Cheung, Shen Gu, James R. Lupski
出版 2023Artigo
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