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

1

A de novo missense mutation of the beta subunit of the epit..:

Hansson, J H ; Schild, L ; Lu, Y...
Proceedings of the National Academy of Sciences. 92 (1995) 25 - p. 11495-11499 , 1995

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

2

Contribution of Somatic Ras/Raf/Mitogen-Activated Protein K..:

Khoshkhoo, S ; Wang, Y ; Chahine, Y...
https://discovery.ucl.ac.uk/id/eprint/10172754/1/jamaneurology_khoshkhoo_2023_oi_230013_1686342415.49452.pdf. , 2023

Link: https://discovery.ucl.ac..

3

DIAPH1 Variants in Non-East Asian Patients With Sporadic Mo..:

Kundishora, AJ ; Peters, ST ; Pinard, A...
https://discovery.ucl.ac.uk/id/eprint/10130640/. , 2021

Link: https://discovery.ucl.ac..

4

OSTα deficiency: A disorder with cholestasis, liver fibrosi..:

Gao, E ; Cheema, H ; Waheed, N...
https://discovery.ucl.ac.uk/id/eprint/10088739/1/Gao_et_al-2019-Hepatology.pdf. , 2020

Link: https://discovery.ucl.ac..

5

Exome sequencing implicates genetic disruption of prenatal ..:

Jin, SC ; Dong, W ; Kundishora, AJ...
https://discovery.ucl.ac.uk/id/eprint/10113597/1/258248_0_art_file_4643678_q5x551_convrt.pdf. , 2020

Link: https://discovery.ucl.ac..

6

Exome Sequencing Implicates Impaired GABA Signaling and Neu..:

Dong, W ; Jin, SC ; Allocco, A...
https://discovery.ucl.ac.uk/id/eprint/10112758/1/1-s2.0-S2589004220307446-main.pdf. , 2020

Link: https://discovery.ucl.ac..

7

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

Timberlake, AT ; Jin, SC ; Nelson-Williams, C...
https://discovery.ucl.ac.uk/id/eprint/10078407/7/Shozeb_Mutations%20in%20TFAP2B%20and%20previously%20unimplicated%20genes%20of%20the%20BMP,%20Wnt,%20and%20Hedgehog%20pathways%20in%20syndromic%20craniosynostosis_VoR.pdf. , 2019

Link: https://discovery.ucl.ac..

8

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

Ververis, A ; Dajani, R ; Koutsou, P...
Journal of Medical Genetics. , 2019

Link: http://hdl.handle.net/10..

9

Recessive Inheritance of Congenital Hydrocephalus With Othe..:

Allocco, AA ; Jin, SC ; Duy, PQ...
https://discovery.ucl.ac.uk/id/eprint/10084008/1/fncel-13-00425.pdf. , 2019

Link: https://discovery.ucl.ac..

10

Mutations in Chromatin Modifier and Ephrin Signaling Genes ..:

Duran, D ; Zeng, X ; Jin, SC...
https://discovery.ucl.ac.uk/id/eprint/10066012/1/NEURON-D-18-00951_R1%20copy.pdf. , 2019

Link: https://discovery.ucl.ac..

11

De Novo Mutation in Genes Regulating Neural Stem Cell Fate ..:

Furey, CG ; Choi, J ; Jin, SC...
https://discovery.ucl.ac.uk/id/eprint/10052459/1/NEURON_shozeb.pdf. , 2018

Link: https://discovery.ucl.ac..

12

A de novo missense mutation of the beta subunit of the epit..:

Hansson, J H ; Schild, L ; Lu, Y...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC40428. , 1995

Link: http://www.ncbi.nlm.nih...

13

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/..

14

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/..

15

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/..