E-LIB Suche - Ergebnisse für: Nelson-Williams, Carol

1

Pathogenic variants in autism geneKATNAL2cause hydrocephalu..:

DeSpenza Jr., Tyrone ; Singh, Amrita ; Allington, Garrett...
Proceedings of the National Academy of Sciences. 121 (2024) 27 - p. , 2024

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

2

Mutation of key signaling regulators of cerebrovascular dev..:

Zhao, Shujuan ; Mekbib, Kedous Y. ; van der Ent, Martijn A....
Nature Communications. 14 (2023) 1 - p. , 2023

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

3

A novel SMARCC1 BAFopathy implicates neural progenitor epig..:

Singh, Amrita K ; Allington, Garrett ; Viviano, Stephen...
Brain. 147 (2023) 4 - p. 1553-1570 , 2023

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

4

The choroid plexus links innate immunity to CSF dysregulati..:

Robert, Stephanie M. ; Reeves, Benjamin C. ; Kiziltug, Emre...
Cell. 186 (2023) 4 - p. 764-785.e21 , 2023

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

5

Multiomic analyses implicate a neurodevelopmental program i..:

Kundishora, Adam J. ; Allington, Garrett ; McGee, Stephen...
Nature Medicine. 29 (2023) 3 - p. 667-678 , 2023

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

6

Human genetics and molecular genomics of Chiari malformatio..:

Mekbib, Kedous Y. ; Muñoz, William ; Allington, Garrett...
Trends in Molecular Medicine. 29 (2023) 12 - p. 1059-1075 , 2023

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

7

A Novel Missense Mutation in ERCC8 Co-Segregates with Cereb..:

Gauhar, Zeeshan ; Tejwani, Leon ; Abdullah, Uzma...
Cells. 11 (2022) 19 - p. 3090 , 2022

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

8

De novo mutations in the BMP signaling pathway in lambdoid ..:

Timberlake, Andrew T. ; Kiziltug, Emre ; Jin, Sheng Chih...
Human Genetics. 142 (2022) 1 - p. 21-32 , 2022

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

9

PPIL4 is essential for brain angiogenesis and implicated in..:

Barak, Tanyeri ; Ristori, Emma ; Ercan-Sencicek, A. Gulhan...
Nature Medicine. 27 (2021) 12 - p. 2165-2175 , 2021

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

10

Exome Sequencing Implicates Impaired GABA Signaling and Neu..:

Dong, Weilai ; Jin, Sheng Chih ; Allocco, August...
iScience. 23 (2020) 10 - p. 101552 , 2020

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

11

Distal hereditary motor neuronopathy of the Jerash type is ..:

Ververis, Antonis ; Dajani, Rana ; Koutsou, Pantelitsa...
Journal of Medical Genetics. 57 (2019) 3 - p. 178-186 , 2019

Link: https://doi.org/10.1136/..

12

Hypokalemia Associated With a Claudin 10 Mutation: A Case R..:

Meyers, Nicole ; Nelson-Williams, Carol ; Malaga-Dieguez, Laura...
American Journal of Kidney Diseases. 73 (2019) 3 - p. 425-428 , 2019

Link: https://doi.org/10.1053/..

13

Recessive Inheritance of Congenital Hydrocephalus With Othe..:

Allocco, August A. ; Jin, Sheng Chih ; Duy, Phan Q....
Frontiers in Cellular Neuroscience. 13 (2019) - p. , 2019

Link: https://doi.org/10.3389/..

14

Mutations in TFAP2B and previously unimplicated genes of th..:

Timberlake, Andrew T. ; Jin, Sheng Chih ; Nelson-Williams, Carol...
Proceedings of the National Academy of Sciences of the United States of America. 116 (2019) 30 - p. 15116-15121 , 2019

Link: https://www.jstor.org/st..

15

Mutations in Chromatin Modifier and Ephrin Signaling Genes ..:

Duran, Daniel ; Zeng, Xue ; Jin, Sheng Chih...
Neuron. 101 (2019) 3 - p. 429-443.e4 , 2019

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