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Braslavsky, Débora
69
results:
Search for persons
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Format
Online (69)
Mediatypes
Articles (Online) (25)
OpenAccess-fulltext (44)
Languages
english (58)
spanish (4)
Sorted by: Relevance
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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
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/..
?
3
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/..
?
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
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
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/..
?
8
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/..
?
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
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/..
?
11
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/..
?
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/..
1-15