E-LIB Suche - Ergebnisse für: Rauen, Katherine

1

Translating multiscale research in rare disease:

Hooper, Kirsty M. ; Justice, Monica J. ; Lek, Monkol..
Disease Models & Mechanisms. 17 (2024) 6 - p. , 2024

Link: https://doi.org/10.1242/..

2

RASopathies – what they reveal about RAS/MAPK signaling in ..:

Rauen, Katherine A. ; Tidyman, William E.
Disease Models & Mechanisms. 17 (2024) 6 - p. , 2024

Link: https://doi.org/10.1242/..

3

44504 Melanocytic neoplasms in neurofibromatosis type 1: A ..:

Meyer, Summer ; Simmons, Elanee ; Rauen, Katherine.
Journal of the American Academy of Dermatology. 89 (2023) 3 - p. AB193 , 2023

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

4

41682 Increased numbers of melanocytic neoplasms in RASopat..:

Simmons, Elanee ; Meyer, Summer ; Bang, Heejung..
Journal of the American Academy of Dermatology. 89 (2023) 3 - p. AB180 , 2023

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

5

P302: Clinical genome sequencing and targeted mouse modelin..:

Shankar, Suma ; Grimsrud, Kristin ; Ma, Van...
Genetics in Medicine Open. 1 (2023) 1 - p. 100330 , 2023

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

6

Obstetrical and neonatal outcomes of cardio‐facio‐cutaneous..:

Jelin, Angie C. ; Mahle, Amanda ; Tran, Susan H...
American Journal of Medical Genetics Part A. 191 (2022) 2 - p. 323-331 , 2022

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

7

Updated diagnostic criteria and nomenclature for neurofibro..:

Plotkin, Scott R. ; Messiaen, Ludwine ; Legius, Eric...
Genetics in Medicine. 24 (2022) 9 - p. 1967-1977 , 2022

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

8

MEK inhibitors for neurofibromatosis type 1 manifestations:..:

de Blank, Peter M K ; Gross, Andrea M ; Akshintala, Srivandana...
Neuro-Oncology. 24 (2022) 11 - p. 1845-1856 , 2022

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

9

A novel DPH5-related diphthamide-deficiency syndrome causin..:

Shankar, Suma P. ; Grimsrud, Kristin ; Lanoue, Louise...
Genetics in Medicine. 24 (2022) 7 - p. 1567-1582 , 2022

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

10

Cross-species analysis of LZTR1 loss-of-function mutants de..:

Cuevas-Navarro, Antonio ; Rodriguez-Muñoz, Laura ; Grego-Bessa, Joaquim...
eLife. 11 (2022) - p. , 2022

Link: https://doi.org/10.7554/..

11

Defining RASopathy:

Rauen, Katherine A.
Disease Models & Mechanisms. 15 (2022) 2 - p. , 2022

Link: https://doi.org/10.1242/..

12

A novel DPH5-related diphthamide-deficiency syndrome causin..:

Shankar, Suma P. ; Grimsrud, Kristin ; Lanoue, Louise...
Genetics in Medicine. 24 (2022) 10 - p. 2207 , 2022

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

13

eP103: Speech development gene pathways: Would genome seque..:

Cole, Stacey ; Egense, Alena ; Suzuki, Ayaka...
Genetics in Medicine. 24 (2022) 3 - p. S66-S67 , 2022

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

14

Case report of oldest described adult with SETD2 variant: a..:

Egense, Alena ; Rauen, Katherine
Molecular Genetics and Metabolism. 132 (2021) - p. S88 , 2021

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

15

MEK-inhibitor-mediated rescue of skeletal myopathy caused b..:

Tidyman, William E. ; Goodwin, Alice F. ; Maeda, Yoshiko..
Disease Models & Mechanisms. , 2021

Link: https://doi.org/10.1242/..