E-LIB Suche - Ergebnisse für: Vishnopolska, Sebastian A

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

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/..

3

COVID-19 Vaccination Responses with Different Vaccine Platf..:

Erra, Lorenzo ; Uriarte, Ignacio ; Colado, Ana...
Journal of Clinical Immunology. 43 (2022) 2 - p. 271-285 , 2022

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

4

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/..

5

Novel Pathogenic Variants in LHX3, LHX4 and GLI2 Identified..:

Vishnopolska, Sebastian ; Mercogliano, María Florencia ; Camilletti, Maria Andrea...
Journal of the Endocrine Society. 5 (2021) Supplement_1 - p. A718-A719 , 2021

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

6

From Pituitary Stem Cell Differentiation to Regenerative Me..:

Camilletti, Maria Andrea ; Martinez Mayer, Julian ; Vishnopolska, Sebastian A..
Frontiers in Endocrinology. 11 (2021) - p. , 2021

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

7

Identification of FOXA2 and PNPLA6 Among Other Genes, as a ..:

Camilletti, Maria Andrea ; Vishnopolska, Sebastian ; Mercogliano, María Florencia...
Journal of the Endocrine Society. 5 (2021) Supplement_1 - p. A540-A541 , 2021

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

8

Spastic ataxia with eye-of-the-tiger-like sign in 4 sibling..:

Calandra, Cristian R. ; Buda, Guadalupe ; Vishnopolska, Sebastian A....
Parkinsonism & Related Disorders. 73 (2020) - p. 52-54 , 2020

Link: https://doi.org/10.1016/..

9

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/..

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

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/..

12

Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2..:

Calandra, Cristian R. ; Mocarbel, Yamile ; Vishnopolska, Sebastian A....
Movement Disorders Clinical Practice. 6 (2019) 3 - p. 259-262 , 2019

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

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

Genetics and genomic medicine in Argentina:

Vishnopolska, Sebastián A. ; Turjanski, Adrián G. ; Herrera Piñero, Mariana...
Molecular Genetics & Genomic Medicine. 6 (2018) 4 - p. 481-491 , 2018

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

15

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/..