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Braslavsky, Debora Giselle
37  Ergebnisse:
Personensuche X
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1

THU162 Impact On Visual Function And Optic Nerve Morphology..:

Braslavsky, Debora Giselle ; Keselman, Ana Claudia ; Ballerini, Maria Gabriela...
Journal of the Endocrine Society.  7 (2023)  Supplement_1 - p. , 2023
Link: https://doi.org/10.1210/..
 
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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/..
 
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3

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/..
 
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4

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/..
 
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5

THU159 Identifying Causative Genes For Pituitary Hormone De..:

Mayer, Julian Martinez ; Hackbartt, Martina ; Garcia, Lucia Iglesias...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10555097/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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6

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

Vishnopolska, Sebastian ; Mercogliano, María Florencia ; Camilletti, Maria Andrea...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8090718/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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7

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..
 
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8

Pilot Neonatal Screening Program for Central Congenital Hyp..:

Braslavsky, Debora Giselle ; Méndez, María Virginia ; Pérez Prieto, Laura María...
info:eu-repo/semantics/altIdentifier/doi/10.1159/000480293.  ,
Link: http://hdl.handle.net/11..
 
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9

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..
 
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10

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..
 
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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..
 
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12

Next generation sequencing panel based on single molecule m..:

Pérez Millán, María Inés ; Vishnopolska, Sebastián Alexis ; Daly, Alexandre Z...
info:eu-repo/semantics/altIdentifier/doi/10.1002/mgg3.395.  ,
Link: http://hdl.handle.net/11..
 
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13

Development and validation of a prediction rule for growth ..:

Clément, Florencia ; Grinspon, Romina ; Yankelevich, Daniel Norberto...
info:eu-repo/semantics/altIdentifier/url/https://www.frontiersin.org/articles/10.3389/fendo.2020.624684/full.  ,
Link: http://hdl.handle.net/11..
 
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14

Comprehensive identification of pathogenic gene variants in..:

Vishnopolska, Sebastián Alexis ; Mercogliano, María Florencia ; Camilletti, María Andrea...
info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/jcem/advance-article/doi/10.1210/clinem/dgab177/6174712.  ,
Link: http://hdl.handle.net/11..
 
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15

Spreading the clinical window for diagnosing fetal-onset hy..:

Grinspon, Romina ; Loreti, Rosana Nazareth ; Braslavsky, Debora Giselle...
info:eu-repo/semantics/altIdentifier/url/http://journal.frontiersin.org/article/10.3389/fendo.2014.00051/full.  ,
Link: http://hdl.handle.net/11..
 
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