Dain, Liliana
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Nombre completo
Dain, Liliana
Variantes
Dain, Liliana Beatriz
Dain, L B
Dain, L
Dain, L B
Dain, L
Results 1-14 of 14 (Search time: 0.003 seconds).
| Issue Date | Title | Author(s) | |
|---|---|---|---|
| 1 | 26-Mar-2019 | A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome | Mendez, Rodrigo ; Delea, Marisol ; Dain, Liliana ; Rittler, Mónica |
| 2 | Jul-2020 | An update on genetic variants of the NKX2-5 | Delea, Marisol ; Simonetti, Leandro ; Fabbro, Mónica ; Espeche, Lucía ; Taboas, Melisa ; Nadra, Alejandro D. ; Bruque, Carlos David ; Dain, Liliana |
| 3 | 11-Feb-2021 | Análisis de anomalías cromosómicas, desbalances genómicos y variantes de secuencia como causa de cardiopatías congénitas | Delea, Marisol ; Massara, Soledad ; Bruque, Carlos David ; Espeche, Lucía ; Taboas, Melisa ; Barbero, Pablo ; Bidondo, María Paz ; Liascovich, Rosa ; Groisman, Boris ; Cosentino, Viviana R ; Martinoli, Celeste ; Furforo, Lilian ; Ritler, Mónica ; Kolomenski, Emilio ; Oliveri, Jaen ; Brun, Paloma ; Rozental, Sandra ; Dain, Liliana |
| 4 | 16-Aug-2017 | Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency | Espeche, Lucía ; Chiauzzi, Violeta ; Ferder, Ianina ; Arrar, Mehrnoosh ; Solari, Andrea ; Bruque, Carlos David ; Delea, Marisol ; Belli, Susana ; Fernández, Cecilia Soledad ; Buzzalino, Noemí Delia ; Charreau, Eduardo Hernán ; Dain, Liliana |
| 5 | 25-Mar-2014 | Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene | Taboas, Melisa ; Gómez Acuña, Luciana ; Scaia, María Florencia ; Bruque, Carlos David ; Buzzalino, Noemí ; Stivel, Mirta ; Ceballos, Nora R ; Dain, Liliana |
| 6 | 11-Sep-2018 | Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects | Delea, Marisol ; Espeche, Lucía ; Bruque, Carlos David ; Bidondo, María Paz ; Massara, Lucía S ; Oliveri, Jaen ; Brun, Paloma ; Cosentino, Viviana R ; Martinoli, Celeste ; Tolaba, Norma ; Picon, Claudina ; Ponce Zaldua, María Eugenia ; Ávila, Silvia ; Gutnisky, Viviana ; Pérez, Myriam ; Furforo, Lilian ; Buzzalino, Noemí Delia ; Liascovich, Rosa ; Groisman, Boris ; Rittler, Mónica ; Rozental, Sandra ; Barbero, Pablo ; Dain, Liliana |
| 7 | 2019 | Genetics and genomic medicine in Argentina | Cotignola, Javier ; Rozental, Sandra ; Buzzalino, Noemí ; Dain, Liliana |
| 8 | 10-Jul-2025 | High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing | Claps, Aldana ; Kolomenski, Emilio ; Fernández, Franco ; Macchiaroli, Natalia ; Ingravidi, Marina ; Delea, Marisol ; Fernandez, Cecilia ; Castro, Tania ; Laiseca, Julieta ; Kamenetzky, Laura ; Taboas, Melisa ; Dain, Liliana |
| 9 | Sep-2020 | Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system | Espeche, Lucía ; Solari, Andrea ; Mori, María Ángeles ; Arenas, Rubén Martín ; Palomares, María ; Pérez, Myriam ; Martínez, Cinthia ; Lotersztein, Vanesa ; Segovia, Mabel ; Armando, Romina ; Dain, Liliana ; Nevado, Julián ; Lapunzina, Pablo ; Rozental, Sandra |
| 10 | 15-Jul-2013 | Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient | Taboas, Melisa ; Fernandez, Cecilia ; Belli, Susana ; Buzzalino, Noemí ; Alba, Liliana ; Dain, Liliana |
| 11 | 30-Jul-2004 | Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF) | Sundblad, Victoria ; Chiauzzi, Violeta ; Escobar, Maria Eugenia ; Dain, Liliana ; Charreau, Eduardo H. |
| 12 | Dec-2016 | Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations | Bruque, Carlos David ; Delea, Marisol ; Fernández, Cecilia ; Orza, Juan V ; Taboas, Melisa ; Buzzalino, Noemí ; Espeche, Lucía ; Solari, Andrea ; Luccerini, Verónica ; Alba, Liliana ; Nadra, Alejandro D. ; Dain, Liliana |
| 13 | 2011 | Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients | Minutolo, Carolina ; Nadra, Alejandro D. ; Fernández, Cecilia ; Taboas, Melisa ; Buzzalino, Noemí ; Casali, Bárbara ; Belli, Susana ; Charreau, Eduardo H. ; Alba, Liliana ; Dain, Liliana |
| 14 | 2013 | Talla final en varones sintomáticos con hiperplasia suprarrenal no clásica tratados con glucocorticoides: Casos clínicos | Pasqualini, Titania ; Alonso, Guillermo ; Fernández, Cecilia ; Buzzalino, Noemí ; Dain, Liliana |