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Áreas de conocimiento > Ciencias médicas y de la salud > Medicina Básica > Genética Humana

PRODUCCION CIENTÍFICO TECNOLÓGICA

Mostrando ítems 121-140 de 311

Artículo Fabry pedigree analysis: A successful program for targeted genetic approach

Rozenfeld, Paula Adriana ; Masllorens, Francisca M.; Roa, Norma; Rodriguez, Fernanda; Bonnano, Mariela; Yvorra, Carolina; Ceci, Romina (John Wiley & Sons Inc., 2019-07)
Artículo Farmacogenomica: Camino hacia una medicina personalizada

Chertkoff, Lilien Patricia ; Araoz, Hilda Veronica (Fundaciòn Hospital de Pediatría "Prof. Dr. Juan P. Garrahan", 2012-06)
Artículo First description of revertant mosaicism in familial platelet disorder with predisposition to acute myelogenous leukemia: correlation with the clinical phenotype

Glembotsky, Ana Claudia ; Marin Oyarzún, Cecilia Paola ; de Luca, Geraldine ; Marzac, Christophe; Auger, Nathalie; Goette, Nora Paula ; Marta, Rosana Fernanda ; Raslova, Hana; Heller, Paula Graciela (Ferrata Storti Foundation, 2020-10)
Artículo Focal spermatogenesis originated in euploid germ cells in classical Klinefelter patients.

Sciurano, Roberta Beatriz ; Luna Hisano, C.V.; Rahn, Irene Monica ; Olmedo, S. Brugo; Rey Valzacchi, Gaston Javier; Coco, Roberto; Solari, Alberto Juan (Oxford University Press, 2009-05)
Artículo From chromosomal abnormalities to the identification of target genes in mouse models of breast cancer

Fabris, Victoria Teresa (Elsevier Inc, 2014-06-25)
Artículo Functional alterations of two novel MC4R mutations found in Argentinian pediatric patients with early onset obesity

Fernández, Estefanía ; Mccarthy, Clara Inés ; Cerviño, Ramiro Hector; Rodríguez, Silvia Susana ; Yaneff, Agustín ; Hernández, Julieta; Garrido, Verónica; Di Rocco, Florencia ; Raingo, Jesica (Elsevier Ireland, 2023-01)
Capítulo de Libro Galectins

Título del libro: Essentials of Glycobiology

Cummings, Richard D.; Liu, Fu-Tong; Rabinovich, Gabriel Adrián ; Stowell, Sean R.; Vasta, Gerardo R. - Otros responsables: Varki, Ajit Cummings, Richard D. Esko, Jeffrey D. Stanley, Pamela Hart, Gerald W. Aebi, Markus Mohnen, Debra Kinoshita, Taroh Packer, Nicolle H. Prestegard, James H. Schnaar, Ronald L. Seeberger, Peter H. - (Cold Spring Harbor Laboratory Press, 2022)
Artículo Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness

Dalamon, Viviana Karina ; Fiori, Mariana C.; Figueroa, Vania A.; Oliva, Carolina A.; del Rio, Rodrigo; Gonzalez, Wendy; Canan, Jonathan; Elgoyhen, Ana Belen ; Altenberg, Guillermo A.; Retamal, Mauricio A. (Springer, 2016-05)
Artículo GATA believe it: new essential regulators of pancreas development

Rodríguez Seguí, Santiago Andrés ; Akerman, Ildem; Ferrer, Jorge (Amer Soc Clinical Investigation Inc, 2012-09)
Artículo Gene polymorphism profiles of drug-metabolising enzymes GSTM1, GSTT1 and GSTP1 in an Argentinian population

Weich, Natalia ; Roisman, Alejandro ; Cerliani, María Belén ; Aráoz, Hilda V.; Chertkoff, Lilien Patricia ; Richard, Silvina Mariel ; Slavutsky, Irma Rosa ; Larripa, Irene Beatriz ; Fundia, Ariela Freya (Taylor & Francis Ltd, 2017-05)
Artículo Gene prioritization based on biological plausibility over genome wide association studies renders new loci associated with type 2 diabetes

Sookoian, Silvia Cristina ; Fernández Gianotti, Tomás ; Schuman, Mariano Luis ; Pirola, Carlos José (Lippincott Williams, 2009-05)
Artículo Genetic analysis algorithm for the study of patients with multiple congenital anomalies and isolated congenital heart disease

Delea, Marisol; Massara, Lucía; Espeche, Lucía; Bidondo, María; Barbero, Pablo Miguel; Oliveri, Jaen Natalia; Brun, Paloma Laura; Fabro, Mónica; Galain, Micaela; Fernández, Cecilia; Taboas, Melisa Ivana ; Bruque, Carlos David ; Kolomenski, Jorge Emilio ; Izquierdo, Agustin ; Berenstein, Ariel José ; Cosentino, Viviana Raquel; Martinoli, María; Vilas, Mariana; Rittler, Mónica; Mendez, Rodrigo; Furforo, Lilian; Liascovich, Rosa ; Groisman, Boris ; Rozental, Sandra; Dain, Liliana Beatriz (Multidisciplinary Digital Publishing Institute, 2020-11)
Artículo Genetic bases and modifiers of β-thalassemia in Argentina

Scheps, Karen ; Salim, Juan Pablo ; Varela, Viviana ; Basack, Nora; García, Eliana; Crisp, Renée; Chiappe, Gustavo; De Paula, Silvia; Watman, Nora; Zerdiew, Ana; Targovnik, Hector Manuel (Elsevier, 2022-09)
Artículo Genetic characterization of a large cohort of Argentine 21-hydroxylase deficiency

Fernández, Cecilia Soledad ; Taboas, Melisa Ivana ; Bruque, Carlos David ; Benavides Mori, Belén; Belli, Susana Haydee; Stivel, Mirta; Oneto, Adriana Marcela; Pasqualini, Titania; Delea, Marisol; Espeche, Lucia Daniela; Kolomenski, Jorge Emilio ; Alba, Liliana; Buzzalino, Noemí Delia; Dain, Liliana Beatriz (Wiley Blackwell Publishing, Inc, 2020-07)
Evento Genetic diagnosis of congenital hypopituitarism by Molecular Inversion Probes Sequencing: novel pathogenic variants

Camilletti, María Andrea ; Mercogliano, María Florencia ; Vishnopolska, Sebastián Alexis ; Braslavsky, Debora Giselle ; Keselman, Ana Claudia; Bergadá, Ignacio ; Marino, Roxana; Ramirez, Pablo; Pérez Garrido, Natalia; Ciaccio, Marta; Di Palma, Maria Isabel; Belgorosky, Alicia; Marti, Marcelo Adrian ; Kitzman, Jacob; Camper, Sally; Pérez Millán, María Inés (Fundación Revista Medicina, 2019)
Artículo Genetic imbalances in argentinean patients with congenital conotruncal heart defects

Delea, Marisol; Espeche, Lucía D.; Bruque, Carlos David ; Bidondo, María Paz; Massara, Lucía S.; Oliveri, Jaen Natalia; Brun, Paloma Laura; Cosentino, Viviana Raquel; Martinoli, Celeste; Tolaba, Norma Noemi; Picon, Claudina; Ponce Zaldua, María Eugenia; Ávila, Silvia; Gutnisky, Viviana; Perez, Myriam; Furforo, Lilian; Buzzalino, Noemí Delia; Liascovich, Rosa ; Groisman, Boris ; Rittler, Mónica; Rozental, Sandra; Barbero, Pablo Miguel; Dain, Liliana Beatriz (MDPI, 2018-09)
Artículo Genetic Mutations in the GH/IGF Axis

Domene, Sabina ; Domene, Horacio Mario (Medical Media, 2018-09)
Artículo Genetic polymorphisms of IL17A associated with Chagas disease: Results from a meta-analysis in Latin American populations

Strauss, Mariana ; Palma-Vega, Miriam; Casares Marfil, Desiré; Pau Bosch, Nicolau; Lo Presti, Maria Silvina ; Molina, Israel; Gonzáles, Clara Isabel; Martin, Javier; Acosta Herrera, Marialbert (Nature Research, 2020-12)
Artículo Genetic predisposition in nonalcoholic fatty liver disease

Sookoian, Silvia Cristina ; Pirola, Carlos José (Korean Association for the Study of the Liver, 2017-03)
Artículo Genetic study in Argentinian patients with clinical Long QT Syndrome diagnosis

Dionisio, Leonardo Raul ; Stupniki, Sofia ; Aztiria, Eugenio Manuel ; Rias, Ezequiel Ignacio ; Dye, Leandro; Onetto, Leonardo; Gregorietti, Franco; Keegan, Roberto; Spitzmaul, Guillermo Federico (Fortune Journals, 2024-03-25)

Mostrando ítems 121-140 de 311