E-LIB Suche - Ergebnisse für: Braslavsky, Débora

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

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

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/..

4

International Consensus Guideline on Small for Gestational ..:

Hokken-Koelega, Anita C S ; van der Steen, Manouk ; Boguszewski, Margaret C S...
Endocrine Reviews. 44 (2023) 3 - p. 539-565 , 2023

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

5

A retrospective analysis of endocrine disease in sphingosin..:

Maharaj, Avinaash ; Kwong, Ruth ; Williams, Jack...
Endocrine Connections. 11 (2022) 8 - p. , 2022

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

6

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/..

7

Comprehensive Identification of Pathogenic Gene Variants in..:

Vishnopolska, Sebastian Alexis ; Mercogliano, Maria Florencia ; Camilletti, Maria Andrea...
The Journal of Clinical Endocrinology & Metabolism. 106 (2021) 7 - p. 1956-1976 , 2021

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

8

Development and Validation of a Prediction Rule for Growth ..:

Clément, Florencia ; Grinspon, Romina P. ; Yankelevich, Daniel...
Frontiers in Endocrinology. 11 (2021) - p. , 2021

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

9

MON-716 A Novel Human Heterozygous STAT5B Variant Leads to ..:

Domene, Sabina ; Plazas, Paola ; Domene, Horacio M...
Journal of the Endocrine Society. 4 (2020) Supplement_1 - p. , 2020

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

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/..

11

MON-717 Novel GLI2 Mutations Identified in Pediatric Patien..:

Perez Millán, Maria I ; Kitzman, Jacob ; Camper, Sally Ann...
Journal of the Endocrine Society. 4 (2020) Supplement_1 - p. , 2020

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

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/..

13

MON-472 Potentially Pathogenic Variants Identified in Patie..:

Vishnopolska, Sebastian ; Mortensen, Amanda ; Braslavsky, Debora...
Journal of the Endocrine Society. 3 (2019) Supplement_1 - p. , 2019

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

14

Next generation sequencing panel based on single molecule m..:

Pérez Millán, María I. ; Vishnopolska, Sebastian A. ; Daly, Alexandre Z....
Molecular Genetics & Genomic Medicine. 6 (2018) 4 - p. 514-525 , 2018

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

15

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/..