Risultati della ricerca - Irman Forghani
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1
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia di Claire Guissart, Xénia Latypova, Paul Rollier, Tahir Naeem Khan, Hannah Stamberger, Kirsty McWalter, Megan T. Cho, Susanne Kjærgaard, Sarah Weckhuysen, Gaëtan Lesca, Thomas Besnard, Katrin Õunap, Lynn Schema, Andreas G. Chiocchetti, Marie McDonald, Julitta de Bellescize, Marie Vincent, Hilde Van Esch, Shannon G. Sattler, Irman Forghani, Isabelle Thiffault, Christine M. Freitag, Deborah Barbouth, Maxime Cadieux‐Dion, Rebecca Willaert, María J. Guillen Sacoto, Nicole P. Safina, Christèle Dubourg, Lauren Grote, Wilfrid Carré, Carol Saunders, Sander Pajusalu, Emily Farrow, Anne Boland, Danielle Karlowicz, Jean‐François Deleuze, Monica H. Wojcik, Rena Pressman, Bertrand Isidor, Annick Vogels, Wim Van Paesschen, Lihadh Al‐Gazali, Aisha M. Al Shamsi, Mireille Claustres, Aurora Pujol, Stephan Sanders, François Rivier, Nicolas Leboucq, Benjamin Cogné, Souphatta Sasorith, Damien Sanlaville, Kyle Retterer, Sylvie Odent, Nicholas Katsanis, Stéphane Bézieau, M. Kœnig, Erica E. Davis, Laurent Pasquier, Sébastien Küry
Pubblicazione 2018Artigo -
2
LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants di Jinfeng Lü, Camilo Toro, David R. Adams, Maria T. Acosta, Margaret P Adam, Raquel L. Alvarez, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Carlos A. Bacino, Güney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael J. Bamshad, Deborah Barbouth, Pınar Bayrak‐Toydemir, Anita Beck, Alan H. Beggs, Edward M. Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennett, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Devon Bonner, Lorenzo D. Botto, Brenna Boyd, Lauren C. Briere, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, William E. Byrd, John C. Carey, Olveen Carrasquillo, Thomas Cassini, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Iván K. Chinn, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Heidi Cope, Rosario I. Corona, William J. Craigen, Andrew B. Crouse, Michael L. Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Dayal, Esteban C. Dell’Angelica, Patricia Dickson, Katrina M. Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, Dawn Earl, David J. Eckstein, Lisa Emrick, Christine M. Eng, Marni J. Falk, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Irman Forghani, William A. Gahl, I. S. Glass, Bernadette Gochuico, Pagé C. Goddard, Rena A. Godfrey, Katie Golden‐Grant, Alana Grajewski, Don Hadley, Sihoun Hahn, Meghan C. Halley, Rizwan Hamid, Kelly Hassey, Nichole Hayes, Frances A. High, Anne Hing, Fuki M. Hisama, Ingrid A. Holm, Jason Hom, Martha Horike‐Pyne
Pubblicazione 2024Artigo
Strumenti per la ricerca:
Soggetti correlati
Biology
Genetics
Allele
Ataxia
Autism
Botany
Cerebellar ataxia
Computational biology
Computer science
Dual (grammatical number)
Gene
Genome
Germline
Human genome
Identification (biology)
Intellectual disability
Linguistics
Medicine
Microsatellite
Neuroscience
Philosophy
Psychiatry
Psychology
Somatic cell