E-LIB Suche - Ergebnisse für: Scaglia, Paula A.

1

Differential alternative splicing analysis links variation ..:

Hannes, Laurens ; Atzori, Marta ; Goldenberg, Alice...
Genetics in Medicine. 26 (2024) 4 - p. 101059 , 2024

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

2

Case report: Novel SIN3A loss-of-function variant as causat..:

Correa Brito, Lourdes ; Keselman, Ana ; Villegas, Florencia...
Frontiers in Genetics. 15 (2024) - p. , 2024

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

3

Identification of a Novel Variant in Myelin Regulatory Grow..:

Correa Brito, Lourdes ; Grinspon, Romina P. ; Lopez Dacal, Jimena...
Journal of Personalized Medicine. 13 (2023) 7 - p. 1158 , 2023

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

4

An in vivo functional assay to characterize human STAT5B ge..:

Landi, Estefanía ; Karabatas, Liliana ; Rodríguez Gomez, Tomás...
Human Molecular Genetics. 32 (2023) 15 - p. 2473-2484 , 2023

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

5

Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal..:

Castro, Sebastián ; Brunello, Franco G. ; Sansó, Gabriela...
Frontiers in Pediatrics. 10 (2022) - p. , 2022

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

6

Applying Bioinformatic Platforms, In Vitro, and In Vivo Fun..:

Domené, Sabina ; Scaglia, Paula A. ; Gutiérrez, Mariana L..
Cells. 10 (2021) 8 - p. 2063 , 2021

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

7

Expression of acid-labile subunit (ALS) in developing and a..:

Landi, Estefanía ; Karabatas, Liliana ; Scaglia, Paula...
General and Comparative Endocrinology. 299 (2020) - p. 113591 , 2020

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

8

p.R209H GH1 variant challenges short stature assessment:

Sanguineti, Nora ; Braslavsky, Debora ; Scaglia, Paula A....
Growth Hormone & IGF Research. 50 (2020) - p. 23-26 , 2020

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

9

OR15-03 High Prevalence of Gene Variants in Boys of Prepube..:

Freire, Analía ; Grinspon, Romina ; Rey, Rodolfo Alberto...
Journal of the Endocrine Society. 4 (2020) Supplement_1 - p. , 2020

Link: https://doi.org/10.1210/..

10

A novel heterozygous STAT5B variant in a patient with short..:

Ramírez, Laura ; Sanguineti, Nora ; Scaglia, Paula...
Growth Hormone & IGF Research. 50 (2020) - p. 61-70 , 2020

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

11

SUN-245 Heterozygous GH1 p.R209H Variant within a Large Ped..:

Sanguineti, Nora ; Scaglia, Paula ; Braslavsky, Debora...
Journal of the Endocrine Society. 3 (2019) Supplement_1 - p. , 2019

Link: https://doi.org/10.1210/..

12

Partial growth hormone insensitivity and dysregulatory immu..:

Gutiérrez, Mariana ; Scaglia, Paula ; Keselman, Ana...
Molecular and Cellular Endocrinology. 473 (2018) - p. 166-177 , 2018

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

13

Characterization of four Latin American families confirms p..:

Scaglia, Paula A. ; Keselman, Ana C. ; Braslavsky, Débora...
Clinical Endocrinology. 87 (2017) 3 - p. 300-311 , 2017

Link: https://doi.org/10.1111/..

14

Assessment of pathogenicity of natural IGFALS gene variants..:

Martucci, Lucía C. ; Gutiérrez, Mariana L. ; Karabatas, Liliana M....
Molecular and Cellular Endocrinology. 429 (2016) - p. 19-28 , 2016

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

15

Association of serum components of the GH-IGFs-IGFBPs syste..:

Ballerini, María Gabriela ; Domené, Horacio Mario ; Scaglia, Paula...
Growth Hormone & IGF Research. 23 (2013) 6 - p. 229-236 , 2013

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