E-LIB Suche - Ergebnisse für: Lin, Sheng‐Jia

1

ABE-ultramax for high-efficiency biallelic adenine base edi..:

Qin, Wei ; Liang, Fang ; Lin, Sheng-Jia...
Nature Communications. 15 (2024) 1 - p. , 2024

2

Clinical, genetic, epidemiologic, evolutionary, and functio..:

Jackson, Adam ; Lin, Sheng-Jia ; Jones, Elizabeth A....
Human Genetics and Genomics Advances. 4 (2023) 2 - p. 100186 , 2023

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

3

Generation and Application of Homoallylic α,α‐Diboryl Radic..:

Vyas, Het ; Gangani, Ashvin J. ; Mini, Aiswarya...
Chemistry – A European Journal. 30 (2023) 2 - p. , 2023

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

4

Evaluating the association of biallelic OGDHL variants with..:

Lin, Sheng-Jia ; Vona, Barbara ; Lau, Tracy...
Genome Medicine. 15 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

5

Bi-allelic ACBD6 variants lead to a neurodevelopmental synd..:

Kaiyrzhanov, Rauan ; Rad, Aboulfazl ; Lin, Sheng-Jia...
Brain. 147 (2023) 4 - p. 1436-1456 , 2023

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

6

Clinical, neuroradiological, and molecular characterization..:

Accogli, Andrea ; Lin, Sheng-Jia ; Severino, Mariasavina...
Genetics in Medicine. 25 (2023) 11 - p. 100938 , 2023

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

7

A homozygous MED11 C-terminal variant causes a lethal neuro..:

Calì, Elisa ; Lin, Sheng-Jia ; Rocca, Clarissa...
Genetics in Medicine. 24 (2022) 10 - p. 2194-2203 , 2022

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

8

WARS1andSARS1: Two tRNA synthetases implicated in autosomal..:

Bögershausen, Nina ; Krawczyk, Hannah E. ; Jamra, Rami A....
Human Mutation. 43 (2022) 10 - p. 1454-1471 , 2022

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

9

Biallelic variants inWARS1cause a highly variable neurodeve..:

Lin, Sheng‐Jia ; Vona, Barbara ; Porter, Hillary M....
Human Mutation. 43 (2022) 10 - p. 1472-1489 , 2022

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

10

Boron-Promoted Deprotonative Conjugate Addition: Geminal Di..:

Wang, Lucia ; Lin, Shengjia ; Santos, Emmanuel...
The Journal of Organic Chemistry. 87 (2022) 15 - p. 9896-9906 , 2022

Link: https://doi.org/10.1021/..

11

α-Hydroxy boron-enabled regioselective access to bifunction..:

Wang, Lucia ; Lin, Shengjia ; Zhu, Yawei...
Chemical Communications. 57 (2021) 37 - p. 4564-4567 , 2021

Link: https://doi.org/10.1039/..

12

Cnr2 Is Important for Ribbon Synapse Maturation and Functio..:

Colón-Cruz, Luis ; Rodriguez-Morales, Roberto ; Santana-Cruz, Alexis...
Frontiers in Molecular Neuroscience. 14 (2021) - p. , 2021

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

13

Acrylic boronate: a multifunctional C3 building block for c..:

Lin, Shengjia ; Wang, Lucia ; Sharma, Abhishek
Chemical Science. 12 (2021) 22 - p. 7924-7929 , 2021

Link: https://doi.org/10.1039/..

14

Biallelic variants in KARS1 are associated with neurodevelo..:

Lin, Sheng-Jia ; Vona, Barbara ; Barbalho, Patricia G....
Genetics in Medicine. 23 (2021) 10 - p. 1933-1943 , 2021

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

15

A biallelic variant in CLRN2 causes non-syndromic hearing l..:

Vona, Barbara ; Mazaheri, Neda ; Lin, Sheng-Jia...
Human Genetics. 140 (2021) 6 - p. 915-931 , 2021

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