E-LIB Suche - Ergebnisse für: Harr, Margaret

1

Spliceosome malfunction causes neurodevelopmental disorders..:

Li, Dong ; Wang, Qin ; Bayat, Allan...
Journal of Clinical Investigation. 134 (2024) 1 - p. , 2024

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

2

Secondary ACMG and non-ACMG genetic findings in a multiethn..:

Saeidian, Amir Hossein ; March, Michael E. ; Youssefian, Leila...
Genetics in Medicine. , 2024

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

3

Managing differential performance of polygenic risk scores ..:

Lewis, Anna C.F. ; Chisholm, Rex L. ; Connolly, John J....
The American Journal of Human Genetics. 111 (2024) 6 - p. 999-1005 , 2024

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

4

Selection, optimization and validation of ten chronic disea..:

Lennon, Niall J. ; Kottyan, Leah C. ; Kachulis, Christopher...
Nature Medicine. 30 (2024) 2 - p. 480-487 , 2024

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

5

Spliceosome malfunction causes neurodevelopmental disorders..:

Li, Dong ; Wang, Qin ; Bayat, Allan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10760965/. , 2024

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

6

Education and electronic medical records and genomics netwo..:

Connolly, John J. ; Berner, Eta S. ; Smith, Maureen...
Genetics in Medicine. 25 (2023) 9 - p. 100906 , 2023

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

7

Prospective, multi-site study of healthcare utilization aft..:

Linder, Jodell E. ; Tao, Ran ; Chung, Wendy K....
The American Journal of Human Genetics. 110 (2023) 11 - p. 1950-1958 , 2023

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

8

Gain and loss of function variants in EZH1 disrupt neurogen..:

Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian...
Nature Communications. 14 (2023) 1 - p. , 2023

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

9

P286: Single vs dual disease causing variant load in a pedi..:

Saeidian, Amir Hossein ; Watson, Deborah ; Wang, Xiang...
Genetics in Medicine Open. 1 (2023) 1 - p. 100314 , 2023

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

10

Gain and loss of function variants in EZH1 disrupt neurogen..:

Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10336078/. , 2023

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

11

P286: Single vs dual disease causing variant load in a pedi..:

Amir Hossein Saeidian ; Deborah Watson ; Xiang Wang...
http://www.sciencedirect.com/science/article/pii/S294977442300314X. , 2023

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

12

Gain and loss of function variants in EZH1 disrupt neurogen..:

Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian...
https://discovery.ucl.ac.uk/id/eprint/10173395/1/Efthymiou_s41467-023-39645-5.pdf. , 2023

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

13

Gain and loss of function variants in EZH1 disrupt neurogen..:

Carolina Gracia-Diaz ; Yijing Zhou ; Qian Yang...
https://doi.org/10.1038/s41467-023-39645-5. , 2023

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

14

Gain and loss of function variants in EZH1 disrupt neurogen..:

Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian...
https://boris.unibe.ch/184706/. , 2023

Link: https://boris.unibe.ch/1..

15

Discovery of a neuromuscular syndrome caused by biallelic v..:

Nair, Divya ; Li, Dong ; Erdogan, Hannah...
Human Genetics and Genomics Advances. 3 (2022) 4 - p. 100122 , 2022

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