E-LIB Suche - Ergebnisse für: Murali, Chaya N

1

Burden re-analysis of neurodevelopmental disorder cohorts f..:

Smal, Noor ; Majdoub, Fatma ; Janssens, Katrien...
European Journal of Human Genetics. , 2024

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

2

Psychosocial Outcomes of Pain and Pain Management in Adults..:

Shepherd, Whitney S. ; Wiese, Andrew D. ; Cho, Hannah E....
Journal of Clinical Psychology in Medical Settings. , 2024

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

3

Improving access to exome sequencing in a medically underse..:

Vuocolo, Blake ; German, Ryan J. ; Lalani, Seema R....
Genetics in Medicine. 26 (2024) 6 - p. 101102 , 2024

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

4

Health-related quality of life in a systematically assessed..:

Murali, Chaya N. ; Barber, John R. ; McCarter, Robert...
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107696 , 2023

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

5

A familial deletion of 10p12.1 associated with thrombocytop..:

Manohar, Sujal ; Gofin, Yoel ; Streff, Haley...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 77-81 , 2023

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

6

A qualitative exploration of patient perspectives on psycho..:

Rork, W. Conor ; Hertz, Alyssa G. ; Wiese, Andrew D....
American Journal of Medical Genetics Part A. , 2023

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

7

Natural history of TANGO2 deficiency disorder: Baseline ass..:

Miyake, Christina Y. ; Lay, Erica J. ; Soler-Alfonso, Claudia...
Genetics in Medicine. 25 (2023) 4 - p. 100352 , 2023

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

8

A novel de novo pathogenic variant in TBL1XR1 as a new prop..:

Tamma, Poornima L. ; Streff, Haley ; Murali, Chaya N.
American Journal of Medical Genetics Part A. 191 (2023) 6 - p. 1576-1580 , 2023

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

9

Heterozygous nonsense variants in the ferritin heavy-chain ..:

Shieh, Joseph T. ; Tintos-Hernandez, Jesus A. ; Murali, Chaya N....
Human Genetics and Genomics Advances. 4 (2023) 4 - p. 100236 , 2023

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

10

A multicenter cross-sectional study in infants with congeni..:

Durbin, Matthew D. ; Helvaty, Lindsey R. ; Li, Ming...
Genetics in Medicine Open. 1 (2023) 1 - p. 100814 , 2023

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

11

A Multicenter Analysis of Abnormal Chromosomal Microarray F..:

Landis, Benjamin J. ; Helvaty, Lindsey R. ; Geddes, Gabrielle C....
Journal of the American Heart Association. 12 (2023) 18 - p. , 2023

Link: https://doi.org/10.1161/..

12

Gain-of-function and loss-of-function variants in GRIA3 lea..:

Rinaldi, Berardo ; Bayat, Allan ; Zachariassen, Linda G...
Brain. 147 (2023) 5 - p. 1837-1855 , 2023

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

13

Quality of life, illness perceptions, and parental lived ex..:

Murali, Chaya N. ; Lalani, Seema R. ; Azamian, Mahshid S...
European Journal of Human Genetics. , 2022

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

14

A multicenter study to evaluate pain characteristics in ost..:

Rodriguez Celin, Mercedes ; Kruger, Karen M. ; Caudill, Angela...
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 160-172 , 2022

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

15

The stories behind the art—Malformations and Hindu mytholog:

Murali, Chaya N.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 187 (2021) 2 - p. 261-264 , 2021

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