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De Novo Pathogenic Variants in N-cadherin Cause a Syndromic..:
Accogli, Andrea
;
Calabretta, Sara
;
St-Onge, Judith
...
qt113843xk. , 2019
Link:
https://escholarship.org/uc/item/113843xk
RT Journal T1
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt113843xk&Exemplar=1&LAN=DE A1 Accogli, Andrea A1 Calabretta, Sara A1 St-Onge, Judith A1 Boudrahem-Addour, Nassima A1 Dionne-Laporte, Alexandre A1 Joset, Pascal A1 Azzarello-Burri, Silvia A1 Rauch, Anita A1 Krier, Joel A1 Fieg, Elizabeth A1 Pallais, Juan C A1 Network, Undiagnosed Diseases A1 Acosta, Maria T A1 Adams, David R A1 Agrawal, Pankaj A1 Alejandro, Mercedes E A1 Allard, Patrick A1 Alvey, Justin A1 Andrews, Ashley A1 Ashley, Euan A A1 Azamian, Mahshid S A1 Bacino, Carlos A A1 Bademci, Guney A1 Baker, Eva A1 Balasubramanyam, Ashok A1 Baldridge, Dustin A1 Bale, Jim A1 Barbouth, Deborah A1 Batzli, Gabriel F A1 Bayrak-Toydemir, Pinar A1 Beggs, Alan H A1 Bejerano, Gill A1 Bellen, Hugo J A1 Bernstein, Jonathan A A1 Berry, Gerard T A1 Bican, Anna A1 Bick, David P A1 Birch, Camille L A1 Bivona, Stephanie A1 Bohnsack, John A1 Bonnenmann, Carsten A1 Bonner, Devon A1 Boone, Braden E A1 Bostwick, Bret L A1 Botto, Lorenzo A1 Briere, Lauren C A1 Brokamp, Elly A1 Brown, Donna M A1 Brush, Matthew A1 Burke, Elizabeth A A1 Burrage, Lindsay C A1 Butte, Manish J A1 Carey, John A1 Carrasquillo, Olveen A1 Chang, Ta Chen Peter A1 Chao, Hsiao-Tuan A1 Clark, Gary D A1 Coakley, Terra R A1 Cobban, Laurel A A1 Cogan, Joy D A1 Cole, F Sessions A1 Colley, Heather A A1 Cooper, Cynthia M A1 Cope, Heidi A1 Craigen, William J A1 D'Souza, Precilla A1 Dasari, Surendra A1 Davids, Mariska A1 Dayal, Jyoti G A1 Dell'Angelica, Esteban C A1 Dhar, Shweta U A1 Dorrani, Naghmeh A1 Dorset, Daniel C A1 Douine, Emilie D A1 Draper, David D A1 Duncan, Laura A1 Eckstein, David J A1 Emrick, Lisa T A1 Eng, Christine M A1 Esteves, Cecilia A1 Estwick, Tyra A1 Fernandez, Liliana A1 Ferreira, Carlos A1 Fieg, Elizabeth L A1 Fisher, Paul G A1 Fogel, Brent L A1 Forghani, Irman A1 Fresard, Laure A1 Gahl, William A A1 Godfrey, Rena A A1 Goldman, Alica M A1 Goldstein, David B A1 Gourdine, Jean-Philippe F A1 Grajewski, Alana A1 Groden, Catherine A A1 Gropman, Andrea L A1 Haendel, Melissa A1 Hamid, Rizwan A1 Hanchard, Neil A A1 Hayes, Nichole PB eScholarship, University of California YR 2019 K1 Biochemistry and Cell Biology K1 Biomedical and Clinical Sciences K1 Genetics K1 Biological Sciences K1 Neurosciences K1 2.1 Biological and endogenous factors K1 Aetiology K1 Axons K1 Cadherins K1 Corpus Callosum K1 Eye K1 Frameshift Mutation K1 Genitalia K1 Heart Defects K1 Congenital K1 Heterozygote K1 Humans K1 Neurodevelopmental Disorders K1 Undiagnosed Diseases Network K1 ACOG K1 CDH2 K1 N-cadherin K1 cardiac defects K1 cell-cell adhesion K1 eye defects K1 genital defects K1 intellectual disability K1 Medical and Health Sciences K1 Genetics & Heredity K1 Health sciences JF qt113843xk LK http://dx.doi.org/https://escholarship.org/uc/item/113843xk DO https://escholarship.org/uc/item/113843xk SF ELIB - SuUB Bremen
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