E-LIB Suche - Ergebnisse für: Shaw, Marie A.

1

Simultaneous Screening of the FRAXA and FRAXE Loci for Rapi..:

Liu, Timing ; Wang, Furene S. ; Cheah, Felicia S.H....
The Journal of Molecular Diagnostics. 23 (2021) 8 - p. 941-951 , 2021

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

2

Further delineation of BCAP31-linked intellectual disabilit..:

Whalen, Sandra ; Shaw, Marie ; Mignot, Cyril...
European Journal of Human Genetics. 29 (2021) 9 - p. 1405-1417 , 2021

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

3

Author Correction: Large-scale targeted sequencing identifi..:

Wang, Tianyun ; Hoekzema, Kendra ; Vecchio, Davide...
Nature Communications. 11 (2020) 1 - p. , 2020

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

4

Large-scale targeted sequencing identifies risk genes for n..:

Wang, Tianyun ; Hoekzema, Kendra ; Vecchio, Davide...
Nature Communications. 11 (2020) 1 - p. , 2020

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

5

Missense variant contribution to USP9X-female syndrome:

Jolly, Lachlan A. ; Parnell, Euan ; Gardner, Alison E....
npj Genomic Medicine. 5 (2020) 1 - p. , 2020

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

6

EXOME REPORT: Novel mutation in ATP6V1B2 segregating with a..:

Shaw, Marie ; Winczewska-Wiktor, Anna ; Badura-Stronka, Magdalena...
European Journal of Medical Genetics. 63 (2020) 4 - p. 103799 , 2020

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

7

Two novel intragenic variants in the FMR1 gene in patients ..:

Carroll, Renee ; Shaw, Marie ; Arvio, Maria...
European Journal of Medical Genetics. 63 (2020) 10 - p. 104010 , 2020

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

8

X‐linked intellectual disability: Phenotypic expression in ..:

Ziats, Catherine A. ; Schwartz, Charles E. ; Gecz, Jozef...
Clinical Genetics. 97 (2019) 3 - p. 418-425 , 2019

Link: https://doi.org/10.1111/..

9

Heterozygous loss of function of IQSEC2/Iqsec2 leads to inc..:

Jackson, Matilda R ; Loring, Karagh E ; Homan, Claire C...
Life Science Alliance. 2 (2019) 4 - p. e201900386 , 2019

Link: https://doi.org/10.26508..

10

A recurrent missense variant inSLC9A7causes nonsyndromic X-..:

Khayat, Wujood ; Hackett, Anna ; Shaw, Marie...
Human Molecular Genetics. 28 (2018) 4 - p. 598-614 , 2018

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

11

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead ..:

Frints, Suzanna G. M. ; Ozanturk, Aysegul ; Rodríguez Criado, Germán...
Molecular Psychiatry. 24 (2018) 11 - p. 1748-1768 , 2018

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

12

O-GlcNAc transferase missense mutations linked to X-linked ..:

Selvan, Nithya ; George, Stephan ; Serajee, Fatema J....
Journal of Biological Chemistry. 293 (2018) 27 - p. 10810-10824 , 2018

Link: https://doi.org/10.1074/..

13

Targeted sequencing identifies 91 neurodevelopmental-disord..:

Stessman, Holly A F ; Xiong, Bo ; Coe, Bradley P...
Nature Genetics. 49 (2017) 4 - p. 515-526 , 2017

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

14

Hotspots of missense mutation identify neurodevelopmental d..:

Geisheker, Madeleine R ; Heymann, Gabriel ; Wang, Tianyun...
Nature Neuroscience. 20 (2017) 8 - p. 1043-1051 , 2017

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

15

Variant in the X-chromosome spliceosomal gene GPKOW causes ..:

Carroll, Renée ; Kumar, Raman ; Shaw, Marie...
European Journal of Human Genetics. 25 (2017) 9 - p. 1078-1082 , 2017

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