E-LIB Suche - Ergebnisse für: Chih Jin, Sheng

1

Variant recurrence confirms the existence of a FBXO31‐relat..:

Dzinovic, Ivana ; Škorvánek, Matej ; Pavelekova, Petra...
Annals of Clinical and Translational Neurology. 8 (2021) 4 - p. 951-955 , 2021

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

2

Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mut..:

Mishra-Gorur, Ketu ; Barak, Tanyeri ; Kaulen, Leon D....
Proceedings of the National Academy of Sciences. 121 (2024) 12 - p. , 2024

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

3

Variants in autophagy genes MTMR12 and FAM134A are putative..:

Tafaleng, Edgar N. ; Li, Jie ; Wang, Yan...
Hepatology. , 2024

Link: https://doi.org/10.1097/..

4

Potential clinical applications of advanced genomic analysi..:

Lewis, Sara A. ; Ruttenberg, Andrew ; Iyiyol, Tuğçe...
eBioMedicine. 106 (2024) - p. 105229 , 2024

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

5

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/..

6

Pleiotropic role of TRAF7 in skull-base meningiomas and con..:

Mishra-Gorur, Ketu ; Barak, Tanyeri ; Kaulen, Leon D....
Proceedings of the National Academy of Sciences. 120 (2023) 16 - p. , 2023

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

7

De Novo Variants in RAB11B Cause Various Degrees of Global ..:

Ahmad, Natalie ; Fazeli, Walid ; Schließke, Sophia...
Pediatric Neurology. 148 (2023) - p. 164-171 , 2023

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

8

Rare variants in ANO1, encoding a calcium-activated chlorid..:

Pinard, Amélie ; Ye, Wenlei ; Fraser, Stuart M...
Brain. 146 (2023) 9 - p. 3616-3623 , 2023

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

9

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/..

10

TRAPPC6B biallelic variants cause a neurodevelopmental diso..:

Almousa, Hashem ; Lewis, Sara A ; Bakhtiari, Somayeh...
Brain. 147 (2023) 1 - p. 311-324 , 2023

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

11

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/..

12

De novo variants implicate chromatin modification, transcri..:

Timberlake, Andrew T. ; McGee, Stephen ; Allington, Garrett...
The American Journal of Human Genetics. 110 (2023) 5 - p. 846-862 , 2023

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

13

Computational Genomics in the Era of Precision Medicine: Ap..:

Wang, Yung-Chun ; Wu, Yuchang ; Choi, Julie...
Journal of Personalized Medicine. 12 (2022) 2 - p. 175 , 2022

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

14

A neural stem cell paradigm of pediatric hydrocephalus:

Duy, Phan Q ; Rakic, Pasko ; Alper, Seth L...
Cerebral Cortex. 33 (2022) 8 - p. 4262-4279 , 2022

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

15

Sequencing of a Chinese tetralogy of Fallot cohort reveals ..:

Tang, Clara Sze Man ; Mononen, Mimmi ; Lam, Wai-Yee...
JCI Insight. 7 (2022) 2 - p. , 2022

Link: https://doi.org/10.1172/..