E-LIB Suche - Ergebnisse für: Bergadá, Ignacio

1

Exome Sequencing Has a High Diagnostic Rate in Sporadic Con..:

Martinez-Mayer, Julian ; Vishnopolska, Sebastian ; Perticarari, Catalina...
The Journal of Clinical Endocrinology & Metabolism. , 2024

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

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

Diagnosis and testing for growth hormone deficiency across ..:

Yuen, Kevin C J ; Johannsson, Gudmundur ; Ho, Ken K Y...
Endocrine Connections. 12 (2023) 7 - p. , 2023

Link: https://doi.org/10.1530/..

4

Diagnosing and treating anterior pituitary hormone deficien..:

Rey, Rodolfo A. ; Bergadá, Ignacio ; Ballerini, María Gabriela...
Reviews in Endocrine and Metabolic Disorders. 25 (2023) 3 - p. 555-573 , 2023

Link: https://doi.org/10.1007/..

5

THU162 Impact On Visual Function And Optic Nerve Morphology..:

Braslavsky, Debora Giselle ; Keselman, Ana Claudia ; Ballerini, Maria Gabriela...
Journal of the Endocrine Society. 7 (2023) Supplement_1 - p. , 2023

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

6

THU211 Novel SIN3A Loss-Of-Function Variant As Potentially ..:

Correa Brito, Lourdes Magdalena ; Keselman, Ana Claudia ; Sanguineti, Nora Maria...
Journal of the Endocrine Society. 7 (2023) Supplement_1 - p. , 2023

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

7

International Guidelines for the Diagnosis and Management o..:

De Leon, Diva D. ; Arnoux, Jean Baptiste ; Banerjee, Indraneel...
Hormone Research in Paediatrics. 97 (2023) 3 - p. 279-298 , 2023

Link: https://doi.org/10.1159/..

8

Testicular dysfunction at diagnosis in children and teenage..:

Lopez Dacal, Jimena ; Prada, Silvina ; Correa Brito, Lourdes...
Frontiers in Endocrinology. 14 (2023) - p. , 2023

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

9

THU159 Identifying Causative Genes For Pituitary Hormone De..:

Mayer, Julian Martinez ; Hackbartt, Martina ; Garcia, Lucia Iglesias...
Journal of the Endocrine Society. 7 (2023) Supplement_1 - p. , 2023

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

10

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/..

11

RF17 | PMON23 Argentinian multicentric genetic study of pit..:

Alonso, Guillermo ; Cau, Carolina Arias ; Belgorosky, Alicia...
Journal of the Endocrine Society. 6 (2022) Supplement_1 - p. A462-A463 , 2022

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

12

Type 1 Insulin-Like Growth Factor Receptor Nuclear Localiza..:

Martin, Ayelen ; Fernandez, María Celia ; Cattaneo, Elizabeth R....
Frontiers in Endocrinology. 13 (2022) - p. , 2022

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

13

Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadenin..:

Giacomozzi, Claudio ; Martin, Ayelen ; Fernández, María Celia...
The Journal of Clinical Endocrinology & Metabolism. 108 (2022) 6 - p. 1355-1369 , 2022

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

14

Serum Vitamin D Levels and Life-Threatening Respiratory Syn..:

Ferolla, F Martin ; Yfran, E Walter ; Ballerini, M Gabriela...
The Journal of Infectious Diseases. 226 (2022) 6 - p. 958-966 , 2022

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

15

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/..