All 2021 2020 2019 2018 2017 2016 2015 Other
All Journal Article Presentation
Scientific Reports
Volume: 11 Pages: 3531-3531
10.1038/s41598-021-81015-y
Med
Volume: 2
10.1016/j.medj.2020.06.004
Clinical Genetics
Volume: 98 Pages: 155-165
10.1111/cge.13773
Molecular Genetics & Genomic Medicine
Volume: 8
10.1002/mgg3.1427
Brain and Development
Volume: 42 Pages: 69-72
10.1016/j.braindev.2019.08.006
Genes
Volume: 11 Pages: 1325-1325
10.3390/genes11111325
Journal of Inherited Metabolic Disease
Volume: - Pages: 819-826
10.1002/jimd.12218
Int J Cardiol.
Volume: 279 Pages: 115-121
10.1016/j.ijcard.2019.01.017
Clinical Case Reports
Volume: 7 Pages: 553-557
10.1002/ccr3.2050
Volume: 9 Pages: 10549-10549
10.1038/s41598-019-46772-x
neurogenetics
Volume: 20(1) Pages: 9-25
10.1007/s10048-018-0561-9
Sci Rep.
Volume: 9 Pages: 17411-17411
10.1038/s41598-019-53449-y
J Pediatr
Volume: 193 Pages: 256-260
10.1016/j.jpeds.2017.09.075
Volume: 40 Pages: 498-502
10.1016/j.braindev.2018.02.007
The American Journal of Human Genetics
Volume: 103 Pages: 221-231
10.1016/j.ajhg.2018.07.001
Volume: 101 Pages: 525-538
10.1016/j.ajhg.2017.08.015
Volume: 40 Pages: 685-693
10.1007/s10545-017-0042-6
J. Hum. Genet.
Volume: 62 Pages: 539-547
10.1038/jhg.2016.165
40021210340
International Journal of Cardiology
Volume: 221 Pages: 446-449
10.1016/j.ijcard.2016.06.287
PLOS Genetics
Volume: 12(1)
10.1371/journal.pgen.1005679
Volume: 90 Pages: 472-474
10.1111/cge.12805
Am J Hum Genet.
Volume: 97(5) Pages: 761-8
10.1016/j.ajhg.2015.09.013