Concepedia

Author

Noemí Buzzalino

Experimental Medicine and Biology Institute

Also Known As

N. D. Buzzalino, Noemi Buzzalino, Noemí Buzzalino, Noemí D. Buzzalino

14

Publications

258

Citations

8

H-Index

10

Concepts

All Affiliations

Experimental Medicine and Biology InstituteUniversidad de Buenos AiresFundación Ciencias Exactas y NaturalesConsejo Nacional de Investigaciones Científicas y TécnicasAdministración Nacional de Laboratorios e Institutos de Salud
NB

About

Noemí Buzzalino is an author at Experimental Medicine and Biology Institute specializing in disorders of sex development, adrenal disease, and osteoporosis.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

1

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10

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Endocrinology

1

1

10

3

Disorders Of Sex Development

1

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10

4

Genetics

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1

10

5

Inherited Metabolic Disease

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Noemí Buzzalino

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6

Publications

115

Citations

6

H-Index

YearCitations

Classical and nonclassical 21‐hydroxylase deficiency: a molecular study of Argentine patients

Liliana Daín, Noemí Buzzalino, Adriana Oneto,

Clinical Endocrinology

2002

31

Structure-Based Analysis of Five Novel Disease-Causing Mutations in 21-Hydroxylase-Deficient Patients

Carolina Minutolo, Alejandro D. Nadra, Cecilia Fernández,

PLoS ONE

2011

30

Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations

Carlos David Bruque, Marisol Delea, Cecilia Fernández,

Scientific Reports

2016

21

Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency

Lucía D. Espeche, Violeta A. Chiauzzi, Ianina C. Ferder,

Genes

2017

12

Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2A>G Mutations of the CYP21A2 Gene

Melisa Taboas, Luciana Gómez Acuña, María Florencia Scaia,

PLoS ONE

2014

11

Congenital adrenal hyperplasia clinical characteristics and genotype in newborn, childhood and adolescence.

Titania Pasqualini, Guillermo Alonso, Rosangela Tomasini,

PubMed

2007

10

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