E-LIB Suche - Ergebnisse für: Domené, Sabina

1

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/..

2

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/..

3

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/..

4

Unraveling the Molecular Players at the Cholinergic Efferen..:

Carpaneto Freixas, Agustín E. ; Moglie, Marcelo J. ; Castagnola, Tais...
The Journal of Neuroscience. 41 (2020) 1 - p. 47-60 , 2020

Link: https://doi.org/10.1523/..

5

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/..

6

The role of acid-labile subunit (ALS) in the modulation of ..:

Domené, Sabina ; Domené, Horacio M.
Molecular and Cellular Endocrinology. 518 (2020) - p. 111006 , 2020

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

7

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/..

8

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/..

9

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/..

10

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/..

11

Enhancer turnover and conserved regulatory function in vert..:

Domené, Sabina ; Bumaschny, Viviana F. ; de Souza, Flávio S. J....
Philosophical Transactions: Biological Sciences. 368 (2013) 1632 - p. 1-14 , 2013

Link: https://www.jstor.org/st..

12

Screening of human LPHN3 for variants with a potential impa..:

Domené, Sabina ; Stanescu, Horia ; Wallis, Deeann...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 156 (2010) 1 - p. 11-18 , 2010

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

13

Association of the TGrI29 microsatellite in thyroglobulin g..:

Varela, Viviana ; Rizzo, Leonardo ; Domené, Sabina...
Endocrine. 38 (2010) 3 - p. 320-327 , 2010

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

14

A novel SIX3 mutation segregates with holoprosencephaly in ..:

Solomon, Benjamin D. ; Lacbawan, Felicitas ; Jain, Mahim...
American Journal of Medical Genetics Part A. 149A (2009) 5 - p. 919-925 , 2009

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

15

Mutations in the human SIX3 gene in holoprosencephaly are l..:

Domené, Sabina ; Roessler, Erich ; El-Jaick, Kenia B....
Human Molecular Genetics. 17 (2008) 24 - p. 3919-3928 , 2008

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