Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)

por Carter, Melissa T, Srour, Myriam, Au, Ping-Yee Billie, Buhas, Daniela, Dyack, Sarah, Eaton, Alison, Inbar-Feigenberg, Michal, Howley, Heather, Kawamura, Anne, Lewis, Suzanne M E, McCready, Elizabeth, Nelson, Tanya N, Vallance, Hilary
Publicado 2023

A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

por Loureiro, Livia O., Howe, Jennifer L., Reuter, Miriam S., Iaboni, Alana, Calli, Kristina, Roshandel, Delnaz, Pritišanac, Iva, Moses, Alan, Forman-Kay, Julie D., Trost, Brett, Zarrei, Mehdi, Rennie, Olivia, Lau, Lynette Y. S., Marshall, Christian R., Srivastava, Siddharth, Godlewski, Brianna, Buttermore, Elizabeth D., Sahin, Mustafa, Hartley, Dean, Frazier, Thomas, Vorstman, Jacob, Georgiades, Stelios, Lewis, Suzanne M. E., Szatmari, Peter, Bradley, Clarrisa A. (Lisa), Tabet, Anne-Claude, Willems, Marjolaine, Lumbroso, Serge, Piton, Amélie, Lespinasse, James, Delorme, Richard, Bourgeron, Thomas, Anagnostou, Evdokia, Scherer, Stephen W.
Publicado 2021