E-LIB Suche - Ergebnisse für: March, Michael E.

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

Rare recurrent copy number variations in metabotropic gluta..:

Glessner, Joseph T. ; Khan, Munir E. ; Chang, Xiao...
Journal of Neurodevelopmental Disorders. 15 (2023) 1 - p. , 2023

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

3

Genomic profiling informs diagnoses and treatment in vascul..:

Li, Dong ; Sheppard, Sarah E. ; March, Michael E....
Nature Medicine. 29 (2023) 6 - p. 1530-1539 , 2023

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

4

Lymphatic disorders caused by mosaic, activating KRAS varia..:

Sheppard, Sarah E. ; March, Michael E. ; Seiler, Christoph...
JCI Insight. 8 (2023) 9 - p. , 2023

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

5

Exome and RNA‐Seq analyses of an incomplete penetrance vari..:

Li, Dong ; March, Michael E. ; Wang, Tiancheng...
American Journal of Medical Genetics Part A. 188 (2022) 6 - p. 1808-1814 , 2022

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

6

Identification of Novel Loci Shared by Juvenile Idiopathic ..:

Li, Jin ; Li, Yun R. ; Glessner, Joseph T....
Arthritis & Rheumatology. 74 (2022) 8 - p. 1420-1429 , 2022

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

7

A novel MBTPS2 variant associated with BRESHECK syndrome im..:

Strong, Alanna ; March, Michael E. ; Cardinale, Christopher J....
American Journal of Medical Genetics Part A. 188 (2021) 2 - p. 463-472 , 2021

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

8

Discovery of Novel Host Molecular Factors Underlying HBV/HC..:

Huang, Xubo ; Glessner, Joseph T. ; Huang, Jinxia...
Frontiers in Cell and Developmental Biology. 9 (2021) - p. , 2021

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

9

Pathogenic variants inSMARCA5, a chromatin remodeler, cause..:

Li, Dong ; Wang, Qin ; Gong, Naihua N....
Science Advances. 7 (2021) 20 - p. , 2021

Link: https://doi.org/10.1126/..

10

HIF-1α Pulmonary Phenotype Wide Association Study Unveils a..:

Kelchtermans, Jelte ; Chang, Xiao ; March, Michael E....
Frontiers in Genetics. 12 (2021) - p. , 2021

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

11

Integrative analysis of genome-wide association studies ide..:

Yao, Xueming ; Glessner, Joseph T. ; Li, Junyi...
Translational Psychiatry. 11 (2021) 1 - p. , 2021

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

12

Association of DLL1 with type 1 diabetes in patients charac..:

Qu, Jingchun ; Qu, Hui-Qi ; Bradfield, Jonathan P....
Metabolism. 114 (2021) - p. 154418 , 2021

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

13

NAC blocks Cystatin C amyloid complex aggregation in a cell..:

March, Michael E. ; Gutierrez-Uzquiza, Alvaro ; Snorradottir, Asbjorg Osk...
Nature Communications. 12 (2021) 1 - p. , 2021

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

14

The Role of Autophagy in Skeletal Muscle Diseases:

Xia, Qianghua ; Huang, Xubo ; Huang, Jieru...
Frontiers in Physiology. 12 (2021) - p. , 2021

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

15

Pathogenic variants in CDH11 impair cell adhesion and cause..:

Li, Dong ; March, Michael E. ; Fortugno, Paola...
Human Genetics. 140 (2021) 7 - p. 1061-1076 , 2021

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