E-LIB Suche - Ergebnisse für: Dawood, Moez

1

O01: Using multiplexed functional data to reduce the VUS bu..:

Dawood, Moez ; Fayer, Shawn ; Post, Mason...
Genetics in Medicine Open. 2 (2024) - p. 101010 , 2024

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

2

NODAL variants are associated with a continuum of lateralit..:

Dardas, Zain ; Fatih, Jawid M. ; Jolly, Angad...
Genome Medicine. 16 (2024) 1 - p. , 2024

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

3

Monoallelic variation in DHX9, the gene encoding the DExH-b..:

Calame, Daniel G. ; Guo, Tianyu ; Wang, Chen...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1394-1413 , 2023

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

4

A biallelic frameshift indel in PPP1R35 as a cause of prima..:

Dawood, Moez ; Akay, Gulsen ; Mitani, Tadahiro...
American Journal of Medical Genetics Part A. 191 (2023) 3 - p. 794-804 , 2023

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

5

Rare variant enrichment analysis supports GREB1L as a contr..:

Jolly, Angad ; Du, Haowei ; Borel, Christelle...
Human Genetics and Genomics Advances. 4 (2023) 3 - p. 100188 , 2023

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

6

The multiple de novo copy number variant (MdnCNV) phenomeno..:

Du, Haowei ; Jolly, Angad ; Grochowski, Christopher M....
Genome Medicine. 14 (2022) 1 - p. , 2022

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

7

Novel pathogenic variants and quantitative phenotypic analy..:

Zhang, Chaofan ; Jolly, Angad ; Shayota, Brian J....
Human Genetics and Genomics Advances. 3 (2022) 1 - p. 100074 , 2022

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

8

Back Cover, Volume 43, Issue 7:

Lima, Ariadne R. ; Ferreira, Barbara M. ; Zhang, Chaofan...
Human Mutation. 43 (2022) 7 - p. , 2022

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

9

Long read sequencing and expression studies ofAHDC1deletion..:

Chander, Varuna ; Mahmoud, Medhat ; Hu, Jianhong...
Human Mutation. 43 (2022) 12 - p. 2033-2053 , 2022

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

10

Phenotypic and mutational spectrum ofROR2‐related Robinow s..:

Lima, Ariadne R. ; Ferreira, Barbara M. ; Zhang, Chaofan...
Human Mutation. 43 (2022) 7 - p. 900-918 , 2022

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

11

AHDC1 missense mutations in Xia-Gibbs syndrome:

Khayat, Michael M. ; Hu, Jianhong ; Jiang, Yunyun...
Human Genetics and Genomics Advances. 2 (2021) 4 - p. 100049 , 2021

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

12

Quantitative dissection of multilocus pathogenic variation ..:

Herman, Isabella ; Jolly, Angad ; Du, Haowei...
American Journal of Medical Genetics Part A. 188 (2021) 3 - p. 735-750 , 2021

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

13

An international virtual hackathon to build tools for the a..:

Mc Cartney, Ann M. ; Mahmoud, Medhat ; Jochum, Michael...
F1000Research. 10 (2021) - p. 246 , 2021

Link: https://doi.org/10.12688..

14

An international virtual hackathon to build tools for the a..:

Mc Cartney, Ann M. ; Mahmoud, Medhat ; Jochum, Michael...
F1000Research. 10 (2021) - p. 246 , 2021

Link: https://doi.org/10.12688..

15

Survival of human lymphoma cells requires B-cell receptor e..:

Young, Ryan M. ; Wu, Tianyi ; Schmitz, Roland...
Proceedings of the National Academy of Sciences of the United States of America. 112 (2015) 44 - p. 13447-13454 , 2015

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