E-LIB Suche - Ergebnisse für: Ramadesikan, Swetha

1

Biallelic variants in HTRA2 cause 3-methylglutaconic acidur..:

Gurusamy, Umamaheswaran ; Ramadesikan, Swetha ; Marhabaie, Mohammad...
Frontiers in Genetics. 14 (2024) - p. , 2024

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

2

A novel IKZF1 variant in a family with autosomal dominant C..:

Stojkic, Ivana ; Prince, Benjamin T. ; Kuehn, Hye Sun...
Clinical Immunology. 264 (2024) - p. 110244 , 2024

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

3

P183: Genome sequencing increases the diagnostic yield in e..:

Ramadesikan, Swetha ; Colwell, Caitlyn ; Marhabaie, Mohammad...
Genetics in Medicine Open. 2 (2024) - p. 101080 , 2024

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

4

LGG-14. TREATMENT OF TWO PEDIATRIC FGFR-ALTERED LOW-GRADE G..:

Lazow, Margot ; Thomas, Diana ; Cottrell, Catherine...
Neuro-Oncology. 25 (2023) Supplement_1 - p. i58-i58 , 2023

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

5

Abstract 2001: A Conformational Disease Component of Lowe S..:

Lee, Jennifer ; Mundre, Swati ; Pacheco, Andres...
Journal of Biological Chemistry. 299 (2023) 3 - p. 103819 , 2023

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

6

Abstract 2077: The Epidermal Growth Factor Receptor variant..:

Subramanian, Sneha ; Seebold, Anna ; Ramadesikan, Swetha.
Journal of Biological Chemistry. 299 (2023) 3 - p. 104386 , 2023

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

7

Heterogeneity in Lowe Syndrome: Mutations Affecting the Pho..:

Lee, Jennifer J. ; Ramadesikan, Swetha ; Black, Adrianna F....
Biomolecules. 13 (2023) 4 - p. 615 , 2023

Link: https://doi.org/10.3390/..

8

The Future of Genetic Disease Studies: Assembling an Update..:

Ramadesikan, Swetha ; Lee, Jennifer ; Aguilar, Ruben Claudio
Frontiers in Cell and Developmental Biology. 10 (2022) - p. , 2022

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

9

Cerebral organoids containing an AUTS2 missense variant mod..:

Fair, Summer R ; Schwind, Wesley ; Julian, Dominic L...
Brain. 146 (2022) 1 - p. 387-404 , 2022

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

10

Genotype & phenotype in Lowe Syndrome: specificOCRL1patient..:

Ramadesikan, Swetha ; Skiba, Lisette ; Lee, Jennifer...
Human Molecular Genetics. 30 (2021) 3-4 - p. 198-212 , 2021

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

11

Lowe syndrome patient cells display mTOR- and RhoGTPase-dep..:

Aguilar, R Claudio ; Bacallao, Robert L ; Hanna, Claudia B...
Human Molecular Genetics. 29 (2020) 10 - p. 1700-1715 , 2020

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

12

Allosteric activators of Ocrl1: a novel therapeutic strateg..:

Aguilar, Ruben Claudio ; Ramadesikan, Swetha ; Madhivanan, Kayalvizhi..
The FASEB Journal. 34 (2020) S1 - p. 1-1 , 2020

Link: https://doi.org/10.1096/..

13

A novel, safe, fast and efficient treatment for Her2‐positi..:

Jack, Sherwin ; Madhivanan, Kayalvizhi ; Ramadesikan, Swetha...
International Journal of Cancer. 146 (2019) 2 - p. 449-460 , 2019

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

14

Kidney-differentiated cells derived from Lowe Syndrome pati..:

Hsieh, Wen-Chieh ; Ramadesikan, Swetha ; Fekete, Donna..
PLOS ONE. 13 (2018) 2 - p. e0192635 , 2018

Link: https://doi.org/10.1371/..

15

Differential effect of OCRL1 patient mutations on protein l..:

Ramadesikan, Swetha ; Madhivanan, Kayalvizhi ; Aguilar, R. Claudio
The FASEB Journal. 32 (2018) S1 - p. , 2018

Link: https://doi.org/10.1096/..