E-LIB Suche - Ergebnisse für: Scaglia, Paula

1

Differential alternative splicing analysis links variation ..:

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

2

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/..

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

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

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/..

13

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/..

14

A Novel Missense Mutation in the SH2 Domain of theSTAT5BGen..:

Scaglia, Paula A. ; Martínez, Alicia S. ; Feigerlová, Eva...
The Journal of Clinical Endocrinology & Metabolism. 97 (2012) 5 - p. E830-E839 , 2012

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

15

Phenotypic Effects of Null and Haploinsufficiency of Acid-L..:

Domené, Horacio M. ; Scaglia, Paula A. ; Lteif, Aida...
The Journal of Clinical Endocrinology & Metabolism. 92 (2007) 11 - p. 4444-4450 , 2007

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