E-LIB Suche - Ergebnisse für: Scaglia, Paula A.

1

OR15-03 High Prevalence of Gene Variants in Boys of Prepube..:

Brunello, Franco ; Sansó, E Gabriela ; Scaglia, Paula...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207673/. , 2020

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

2

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...

3

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...

4

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...

5

Characterization of four Latin American families confirms p..:

Scaglia, Paula A ; Keselman, Ana C ; Braslavsky, Debora...
http://dx.doi.org/10.1111/cen.13361. , 2017

Link: http://repositorio.unife..

6

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

Landi, Estefania ; Karabatas, Liliana ; Ramirez, Laura...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208618/. , 2020

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

7

A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGEN..:

Borges, Maria de Fátima ; Domené, Horacio Mario ; Scaglia, Paula Alejandra...
10.1590/1984-0462/;2019;37;4;00017. , 2019

Link: http://www.scielo.br/sci..

8

A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGEN..:

Borges, Maria de Fátima ; Domené, Horacio Mario ; Scaglia, Paula Alejandra...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821475/. , 2019

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

9

A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGEN..:

Borges, Maria de Fátima ; Domené, Horacio Mario ; Scaglia, Paula Alejandra...
10.1590/1984-0462/;2019;37;4;00017. , 2019

Link: http://www.scielo.br/sci..

10

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..

11

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..

12

Genotyping IGFBP3 Gene Polymorphism Improves the Diagnostic..:

Domene, Horacio Mario ; Scaglia, Paula Alejandra ; Martinez, Alicia Susana...
info:eu-repo/semantics/altIdentifier/doi/ 10.1159/000329197. ,

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

13

Characterization of four Latin American families confirms p..:

Scaglia, Paula Alejandra ; Keselman, Ana Claudia ; Braslavsky, Debora Giselle...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cen.13361. ,

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

14

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..

15

Heterozygous IGFALS Gene Variants in Idiopathic Short Statu..:

Domene, Horacio Mario ; Scaglia, Paula Alejandra ; Martinez, Alicia Susana...
info:eu-repo/semantics/altIdentifier/url/https://www.karger.com/Article/Pdf/355412. ,

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