E-LIB Suche - Ergebnisse für: Scaglia, Paula Alejandra

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

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/..

3

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

Borges, Maria de Fátima ; Domené, Horacio Mario ; Scaglia, Paula Alejandra...
Revista Paulista de Pediatria. 37 (2019) 4 - p. 520-524 , 2019

Link: https://doi.org/10.1590/..

4

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...

5

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..

6

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...

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

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..

9

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..

10

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..

11

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..

12

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..

13

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..

14

A recurrent mutation in TSHB gene underlying central congen..:

Borges, Maria de Fátima ; Domene, Horacio Mario ; Scaglia, Paula Alejandra...
info:eu-repo/semantics/altIdentifier/url/http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822019005010105&tlng=en. ,

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

15

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..