E-LIB Suche - Ergebnisse für: Sanguineti, Nora Maria

1

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/..

2

Síndrome de osteoporosis-pseudoglioma: A propósito de un ca..:

Braslavsky, Débora ; Scaglia, Paula Alejandra ; Sanguineti, Nora María...
info:eu-repo/semantics/altIdentifier/doi/10.5546/aap.2020.e300. ,

Link: http://hdl.handle.net/11..

3

Genomic diagnosis implementation in a pediatric hospital: P..:

Scaglia, Paula Alejandra ; Esnaola Azcoiti, María ; Casali, Bárbara María de Los Angeles M...
info:eu-repo/semantics/altIdentifier/url/https://ri.conicet.gov.ar/admin/retrieve/cf37d443-a087-4a40-a706-aad8fda54932/CONICET_Digital_Nro.c36cc453-5e00-42c0-b486-4b40c599e9df_A.pdf. ,

Link: http://hdl.handle.net/11..

4

A Homozygous Mutation in the Highly Conserved Tyr60 of the ..:

Keselman, Ana Claudia ; Martin, Ayelen ; Scaglia, Paula Alejandra...
info:eu-repo/semantics/altIdentifier/url/https://eje.bioscientifica.com/view/journals/eje/aop/eje-19-0563.xml. ,

Link: http://hdl.handle.net/11..

5

p.R209H GH1 variant challenges short stature assessment:

Sanguineti, Nora María ; Braslavsky, Debora Giselle ; Scaglia, Paula Alejandra...
info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S1096637419300553. ,

Link: http://hdl.handle.net/11..

6

Partial growth hormone insensitivity and dysregulatory immu..:

Gutiérrez, Mariana Lilián ; Scaglia, Paula Alejandra ; Keselman, Ana Claudia...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.mce.2018.01.016. ,

Link: http://hdl.handle.net/11..

7

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/..

8

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/..

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

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/..

11

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/..

12

SUN-245 Heterozygous GH1 p.R209H Variant within a Large Ped..:

Sanguineti, Nora ; Scaglia, Paula ; Braslavsky, Debora...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6553300/. , 2019

Link: http://www.ncbi.nlm.nih...

13

p.R209H GH1 variant challenges short stature assessment:

Sanguineti, Nora ; Braslavsky, Debora ; Scaglia, Paula A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7054144/. , 2019

Link: http://www.ncbi.nlm.nih...

14

Partial growth hormone insensitivity and dysregulatory immu..:

Gutiérrez, Mariana ; Scaglia, Paula ; Keselman, Ana...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6143347/. , 2018

Link: http://www.ncbi.nlm.nih...

15

Response to heat stress and glutenins allelic variation eff..:

Tabbita, Facundo ; Ammar, Karim ; Ibba, María Itria...
Journal of Agronomy and Crop Science. 210 (2024) 1 - p. , 2024

Link: https://doi.org/10.1111/..