Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Nicole Safina"'
Autor:
Moon Ley Tung, Bharatendu Chandra, Jaime Nagy, Hatem El-Shanti, John Bernat, Nicole Safina, Amy Calhoun, Georgianne Younger, Kyle Dillahunt, Anna Paulson, Taylor Warner, Hannah Bombei, Jaclyn Kotlarek
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101042- (2024)
Externí odkaz:
https://doaj.org/article/b2b7c1079f2b45f5abca257c496630cf
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100362- (2023)
Externí odkaz:
https://doaj.org/article/67fd629c361b48b3908e502414ea154e
Autor:
Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, Michelle T. Siu, Andrei Turinsky, Sanaa Choufani, Sarah J. Goodman, Omar Abdul-Rahman, Melanie Bedford, Naghmeh Dorrani, Kendra Engleman, Josue Flores-Daboub, David Genevieve, Roberto Mendoza-Londono, Wendy Meschino, Laurence Perrin, Nicole Safina, Sharron Townshend, Stephen W. Scherer, Evdokia Anagnostou, Amelie Piton, Matthew Deardorff, Michael Brudno, David Chitayat, Rosanna Weksberg
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-14 (2019)
Abstract Background Nicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic component of the chromatin remodeling BAF complex. Pathogenic variants in genes t
Externí odkaz:
https://doaj.org/article/1e206ed1cc744139884353eb7cb8a537
Autor:
Véronique Caron, Nicolas Chassaing, Nicola Ragge, Felix Boschann, Angelina My-Hoa Ngu, Elisabeth Meloche, Sarah Chorfi, Saquib A. Lakhani, Weizhen Ji, Laurie Steiner, Julien Marcadier, Philip R. Jansen, Laura A. van de Pol, Johanna M. van Hagen, Alvaro Serrano Russi, Gwenaël Le Guyader, Magnus Nordenskjöld, Ann Nordgren, Britt-Marie Anderlid, Julie Plaisancié, Corinna Stoltenburg, Denise Horn, Anne Drenckhahn, Fadi F. Hamdan, Mathilde Lefebvre, Tania Attie-Bitach, Peggy Forey, Vasily Smirnov, Françoise Ernould, Marie-Line Jacquemont, Sarah Grotto, Alberto Alcantud, Alicia Coret, Rosario Ferrer-Avargues, Siddharth Srivastava, Catherine Vincent-Delorme, Shelby Romoser, Nicole Safina, Dimah Saade, James R. Lupski, Daniel G. Calame, David Geneviève, Nicolas Chatron, Caroline Schluth-Bolard, Kenneth A. Myers, William B. Dobyns, Patrick Calvas, Caroline Salmon, Richard Holt, Frances Elmslie, Marc Allaire, Daniil M. Prigozhin, André Tremblay, Jacques L. Michaud
Publikováno v:
The DDD study 2023, ' Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta ', Genetics in Medicine, vol. 25, no. 8, 100856 . https://doi.org/10.1016/j.gim.2023.100856
Genetics in Medicine, 25(8):100856. Lippincott Williams and Wilkins
Genetics in Medicine, 25(8):100856. Lippincott Williams and Wilkins
Purpose: Dominant variants in the retinoic acid receptor beta (RARB) gene underlie a syndromic form of microphthalmia, known as MCOPS12, which is associated with other birth anomalies and global developmental delay with spasticity and/or dystonia. He
Publikováno v:
Genetics in Medicine. 24:S166-S167
Publikováno v:
Genetics in Medicine. 24:S166
Publikováno v:
Critical Care Medicine. 50:370-370