E-LIB Suche - Ergebnisse für: Gleeson, Joseph G.

1

Mapping recurrent mosaic copy number variation in human neu..:

Sun, Chen ; Kathuria, Kunal ; Emery, Sarah B....
Nature Communications. 15 (2024) 1 - p. , 2024

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

2

Cell-type-resolved mosaicism reveals clonal dynamics of the..:

Chung, Changuk ; Yang, Xiaoxu ; Hevner, Robert F....
Nature. 629 (2024) 8011 - p. 384-392 , 2024

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

3

The clinical and genetic landscape of developmental and epi..:

Elkhateeb, Nour ; Issa, Mahmoud Y. ; Elbendary, Hasnaa M....
Clinical Genetics. 105 (2024) 5 - p. 510-522 , 2024

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

4

TMEM161B modulates radial glial scaffolding in neocortical ..:

Wang, Lu ; Heffner, Caleb ; Vong, Keng loi...
Proceedings of the National Academy of Sciences. 120 (2023) 4 - p. , 2023

Link: https://doi.org/10.1073/..

5

Genomic data resources of the Brain Somatic Mosaicism Netwo..:

Garrison, McKinzie A. ; Jang, Yeongjun ; Bae, Taejeong...
Scientific Data. 10 (2023) 1 - p. , 2023

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

6

Personalized antisense oligonucleotides 'for free, for life..:

Gleeson, Joseph G. ; Bennett, C. Frank ; Carroll, Jeffrey B....
Nature Medicine. 29 (2023) 6 - p. 1302-1303 , 2023

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

7

Bi-allelic loss-of-function variants in WBP4, encoding a sp..:

Engal, Eden ; Oja, Kaisa Teele ; Maroofian, Reza...
The American Journal of Human Genetics. 110 (2023) 12 - p. 2112-2119 , 2023

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

8

Clinical and molecular spectrum of a large Egyptian cohort ..:

Zaki, Maha S. ; Sharaf‐Eldin, Wessam E. ; Rafat, Karima...
Clinical Genetics. 104 (2023) 2 - p. 238-244 , 2023

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

9

BRAT1–related disorders: phenotypic spectrum and phenotype-..:

Engel, Camille ; Valence, Stéphanie ; Delplancq, Geoffroy...
European Journal of Human Genetics. , 2023

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

10

Reversibility and developmental neuropathology of linear ne..:

Kim, Ye Eun ; Kim, Yong-Seok ; Lee, Hee-Eun...
Cell Reports. 42 (2023) 1 - p. 112003 , 2023

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

11

Heteromeric clusters of ubiquitinated ER-shaping proteins d..:

Foronda, Hector ; Fu, Yangxue ; Covarrubias-Pinto, Adriana...
Nature. 618 (2023) 7964 - p. 402-410 , 2023

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

12

Stem Cell–Based Organoid Models of Neurodevelopmental Disor..:

Wang, Lu ; Owusu-Hammond, Charlotte ; Sievert, David.
Biological Psychiatry. 93 (2023) 7 - p. 622-631 , 2023

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

13

SLC4A10 mutation causes a neurological disorder associated ..:

Fasham, James ; Huebner, Antje K ; Liebmann, Lutz...
Brain. 146 (2023) 11 - p. 4547-4561 , 2023

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

14

Novel association of Dandy–Walker malformation with CAPN15 ..:

Beaman, M. Makenzie ; Guidugli, Lucia ; Hammer, Monia...
American Journal of Medical Genetics Part A. 191 (2023) 11 - p. 2757-2767 , 2023

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

15

Post-zygotic brain mosaicism as a result of partial reversi..:

Chung, Changuk ; Yang, Xiaoxu ; Gleeson, Joseph G.
Nature Genetics. 55 (2023) 11 - p. 1784-1785 , 2023

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