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Paula Scaglia
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1

Type A Insulin Resistance Syndrome- Novel insulin receptor ..:

Analía V, Freire ; Paula, Scaglia ; Mirta G, Gryngarten...
International Journal of Clinical Endocrinology and Metabolism.  5 (2019)  1 - p. 020-023 , 2019
Link: https://doi.org/10.17352..
 
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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/..
 
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3

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/..
 
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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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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14

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/..
 
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15

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/..
 
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