E-LIB Suche - Ergebnisse für: Pilz, Daniela T.

1

Early childhood epilepsies: epidemiology, classification, a..:

Symonds, Joseph D ; Elliott, Katherine S ; Shetty, Jay...
Brain. 144 (2021) 9 - p. 2879-2891 , 2021

Link: https://doi.org/10.1093/..

2

SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Ep..:

Zaman, Tariq ; Helbig, Katherine L. ; Clatot, Jérôme...
Annals of Neurology. 88 (2020) 2 - p. 348-362 , 2020

Link: https://doi.org/10.1002/..

3

International consensus recommendations on the diagnostic w..:

Oegema, Renske ; Barakat, Tahsin Stefan ; Wilke, Martina...
Nature Reviews Neurology. 16 (2020) 11 - p. 618-635 , 2020

Link: https://doi.org/10.1038/..

4

Incidence and phenotypes of childhood-onset genetic epileps..:

Symonds, Joseph D ; Zuberi, Sameer M ; Stewart, Kirsty...
Brain. 142 (2019) 8 - p. 2303-2318 , 2019

Link: https://doi.org/10.1093/..

5

A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesi..:

O'Neill, Adam C. ; Kyrousi, Christina ; Klaus, Johannes...
Cell Reports. 25 (2018) 10 - p. 2729-2741.e6 , 2018

Link: https://doi.org/10.1016/..

6

Tubulin genes and malformations of cortical development:

Romaniello, Romina ; Arrigoni, Filippo ; Fry, Andrew E....
European Journal of Medical Genetics. 61 (2018) 12 - p. 744-754 , 2018

Link: https://doi.org/10.1016/..

7

Chromosome 17q12 duplications: Further delineation of the r..:

Kamath, Arveen ; Linden, Stefanie C. ; Evans, Ffion M....
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 177 (2018) 5 - p. 520-528 , 2018

Link: https://doi.org/10.1002/..

8

Clinical and Functional Characterization of the Recurrent T..:

Gardner, Jennifer F. ; Cushion, Thomas D. ; Niotakis, Georgios...
Brain Sciences. 8 (2018) 8 - p. 145 , 2018

Link: https://doi.org/10.3390/..

9

Clinical features associated with CTNNB1 de novo loss of fu..:

Kharbanda, Mira ; Pilz, Daniela T. ; Tomkins, Susan...
European Journal of Medical Genetics. 60 (2017) 2 - p. 130-135 , 2017

Link: https://doi.org/10.1016/..

10

Pathogenic copy number variants and SCN1A mutations in pati..:

Fry, Andrew E. ; Rees, Elliott ; Thompson, Rose...
BMC Medical Genetics. 17 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

11

Diverse phenotypic consequences of mutations affecting the ..:

van Kogelenberg, Margriet ; Clark, Alice R. ; Jenkins, Zandra...
Journal of Molecular Medicine. 93 (2015) 7 - p. 773-782 , 2015

Link: https://doi.org/10.1007/..

12

Erratum: Corrigendum: Mutations in the DNA methyltransferas..:

Childhood Overgrowth Consortium ; Tatton-Brown, Katrina ; Seal, Sheila...
Nature Genetics. 46 (2014) 6 - p. 657-657 , 2014

Link: https://doi.org/10.1038/..

13

The genetics of lissencephaly:

Fry, Andrew E. ; Cushion, Thomas D. ; Pilz, Daniela T.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 166 (2014) 2 - p. 198-210 , 2014

Link: https://doi.org/10.1002/..

14

Mutations in the DNA methyltransferase gene DNMT3A cause an..:

Childhood Overgrowth Consortium ; Tatton-Brown, Katrina ; Seal, Sheila...
Nature Genetics. 46 (2014) 4 - p. 385-388 , 2014

Link: https://doi.org/10.1038/..

15

Association of CHRDL1 Mutations and Variants with X-linked ..:

Davidson, Alice E. ; Cheong, Sek-Shir ; Hysi, Pirro G....
PLoS ONE. 9 (2014) 8 - p. e104163 , 2014

Link: https://doi.org/10.1371/..