E-LIB Suche - Ergebnisse für: Sanchez Russo, Rossana

1

The spectrum of heart defects in theTRAF7-related multiple ..:

Pisan, Elise ; De Luca, Chiara ; Brancati, Francesco...
Proceedings of the National Academy of Sciences. 121 (2024) 12 - p. , 2024

Link: https://doi.org/10.1073/..

2

Musculoskeletal phenotypes in 3q29 deletion syndrome:

Pollak, Rebecca M. ; Tilmon, Jacob C. ; Murphy, Melissa M....
American Journal of Medical Genetics Part A. 191 (2023) 11 - p. 2749-2756 , 2023

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

3

Arginine to ornithine ratio as a diagnostic marker in patie..:

Huang, Yue ; Sharma, Rajesh ; Feigenbaum, Annette...
Molecular Genetics and Metabolism Reports. 27 (2021) - p. 100735 , 2021

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

4

Craniofacial features of 3q29 deletion syndrome: Applicatio..:

Mak, Bryan C. ; Sanchez Russo, Rossana ; Gambello, Michael J....
American Journal of Medical Genetics Part A. 185 (2021) 7 - p. 2094-2101 , 2021

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

5

Exon skip‐inducing variants in FLNA in an attenuated form o..:

Wade, Emma M. ; Jenkins, Zandra A. ; Morgan, Tim...
American Journal of Medical Genetics Part A. 185 (2021) 12 - p. 3675-3682 , 2021

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

6

Deep phenotyping in 3q29 deletion syndrome: recommendations..:

Sanchez Russo, Rossana ; Gambello, Michael J. ; Murphy, Melissa M....
Genetics in Medicine. 23 (2021) 5 - p. 872-880 , 2021

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

7

Novel PLEC gene variants causing congenital myasthenic synd..:

Gonzalez Garcia, Aixa ; Tutmaher, Michelle S. ; Upadhyayula, Saila R...
Muscle & Nerve. 60 (2019) 6 - p. , 2019

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

8

Study protocol for The Emory 3q29 Project: evaluation of ne..:

Murphy, Melissa M. ; Lindsey Burrell, T. ; Cubells, Joseph F....
BMC Psychiatry. 18 (2018) 1 - p. , 2018

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

9

Efficacy and safety of pegzilarginase in arginase 1 deficie..:

Russo, Rossana Sanchez ; Gasperini, Serena ; Bubb, Gillian...
eClinicalMedicine. 68 (2024) - p. 102405 , 2024

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

10

De novo variants in DENND5B cause a neurodevelopmental diso..:

Scala, Marcello ; Tomati, Valeria ; Ferla, Matteo...
The American Journal of Human Genetics. 111 (2024) 3 - p. 529-543 , 2024

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

11

Possible increased incidence of pathogenicdeletions in exon..:

Laney, Dawn A. ; Black, Emily ; Russo, Rossana Sanchez
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S70 , 2022

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

12

eP339: Ending the diagnostic odyssey: De novo mosaic pathog..:

Davids, Laura ; Palaniappan, Selvi ; Bibb, Audrey.
Genetics in Medicine. 24 (2022) 3 - p. S212 , 2022

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

13

PEGZILARGINASE IN ARGINASE 1 DEFICIENCY: RESULTS OF THE PEA..:

Enns, Gregory M. ; Russo, Rossana Sanchez ; Bradford, Eric...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 269 , 2022

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

14

Convergent and distributed effects of the 3q29 deletion on ..:

Sefik, Esra ; Purcell, Ryan H. ; Aberizk, Katrina...
Translational Psychiatry. 11 (2021) 1 - p. , 2021

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

15

Comprehensive phenotyping of neuropsychiatric traits in a m..:

The Emory 3q29 Project ; Murphy, Melissa M. ; Burrell, T. Lindsey...
BMC Psychiatry. 20 (2020) 1 - p. , 2020

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