In silico and in vivo analyses of a novel variant in MYO6 identified in a family with postlingual non-syndromic hearing loss from Argentina von Buonfiglio, Paula I, Bruque, Carlos D, Salatino, Lucía, Lotersztein, Vanesa, Pace, Mariela, Grinberg, Sofia, Elgoyhen, Ana B, Plazas, Paola V, Dalamón, Viviana

Volltext

An update on genetic variants of the NKX2‐5 von Kolomenski, Jorge E., Delea, Marisol, Simonetti, Leandro, Fabbro, Mónica C., Espeche, Lucía D., Taboas, Melisa, Nadra, Alejandro D., Bruque, Carlos D., Dain, Liliana

Volltext

Expression and characterisation of von Ferder, Ianina C., Espeche, Lucía D., Bruque, Carlos D., Parborell, Fernanda, Tesone, Marta, Dain, Liliana

Volltext

Expression and characterisation of Fmr1 splice variants during folliculogenesis in the rat von Ferder, Ianina C, Espeche, Lucía D, Bruque, Carlos D, Parborell, Fernanda, Tesone, Marta, Dain, Liliana

Volltext

Genetic characterization of a large cohort of Argentine 21‐hydroxylase Deficiency von Fernández, Cecilia S., Taboas, Melisa, Bruque, Carlos D., Benavides‐Mori, Belén, Belli, Susana, Stivel, Mirta, Oneto, Adriana, Pasqualini, Titania, Delea, Marisol, Espeche, Lucía D., Kolomenski, Jorge E., Alba, Liliana, Buzzalino, Noemí, Dain, Liliana

Volltext

GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort von Buonfiglio, Paula, Bruque, Carlos D., Luce, Leonela, Giliberto, Florencia, Lotersztein, Vanesa, Menazzi, Sebastián, Paoli, Bibiana, Elgoyhen, Ana Belén, Dalamón, Viviana

Volltext

Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies von Massara, Lucía S., Delea, Marisol, Espeche, Lucía, Bruque, Carlos D., Oliveri, Jaen, Brun, Paloma, Furforo, Lilian, Dain, Liliana, Rozental, Sandra

Volltext

In silico and in vivo analyses of a novel variant in MYO 6 identified in a family with postlingual non-syndromic hearing loss from Argentina von Buonfiglio, Paula I, Bruque, Carlos D, Salatino, Lucía, Lotersztein, Vanesa, Pace, Mariela, Grinberg, Sofia, Elgoyhen, Ana B, Plazas, Paola V, Dalamón, Viviana

Volltext

GJB 2 and GJB 6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort von Buonfiglio, Paula, Bruque, Carlos D, Luce, Leonela, Giliberto, Florencia, Lotersztein, Vanesa, Menazzi, Sebastián, Paoli, Bibiana, Elgoyhen, Ana Belén, Dalamón, Viviana

Volltext

Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2AG Mutations of the CYP21A2 Gene von Taboas, Melisa, Gómez Acuña, Luciana, Scaia, María Florencia, Bruque, Carlos D, Buzzalino, Noemí, Stivel, Mirta, Ceballos, Nora R, Dain, Liliana

Volltext

Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches von Buonfiglio, Paula I., Bruque, Carlos D., Lotersztein, Vanesa, Luce, Leonela, Giliberto, Florencia, Menazzi, Sebastián, Francipane, Liliana, Paoli, Bibiana, Goldschmidt, Ernesto, Elgoyhen, Ana Belén, Dalamón, Viviana

Volltext

Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2A>G Mutations of the CYP21A2 Gene: e92181 von Taboas, Melisa, Acuna, Luciana Gomez, Scaia, Maria Florencia, Bruque, Carlos D, Buzzalino, Noemi, Stivel, Mirta, Ceballos, Nora R, Dain, Liliana

Volltext

Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene von Taboas, Melisa, Gómez Acuña, Luciana, Scaia, María Florencia, Bruque, Carlos D, Buzzalino, Noemí, Stivel, Mirta, Ceballos, Nora R, Dain, Liliana

Volltext

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants von Simonetti, Leandro, Bruque, Carlos D., Fernández, Cecilia S., Benavides‐Mori, Belén, Delea, Marisol, Kolomenski, Jorge E., Espeche, Lucía D., Buzzalino, Noemí D., Nadra, Alejandro D., Dain, Liliana

Volltext

Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations von Bruque, Carlos D., Delea, Marisol, Fernández, Cecilia S., Orza, Juan V., Taboas, Melisa, Buzzalino, Noemí, Espeche, Lucía D., Solari, Andrea, Luccerini, Verónica, Alba, Liliana, Nadra, Alejandro D., Dain, Liliana

Volltext

Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease von Delea, Marisol, Massara, Lucia S, Espeche, Lucia D, Bidondo, María Paz, Barbero, Pablo, Oliveri, Jaen, Brun, Paloma, Fabro, Mónica, Galain, Micaela, Fernández, Cecilia S, Taboas, Melisa, Bruque, Carlos D, Kolomenski, Jorge E, Izquierdo, Agustín, Berenstein, Ariel, Cosentino, Viviana, Martinoli, Celeste, Vilas, Mariana, Rittler, Mónica, Mendez, Rodrigo, Furforo, Lilian, Liascovich, Rosa, Groisman, Boris, Rozental, Sandra, Dain, Liliana, On Behalf Of The Pid Acm-Cc Group

Volltext

Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects von Delea, Marisol, Espeche, Lucía D, Bruque, Carlos D, 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, Perez, Myriam, Furforo, Lilian, Buzzalino, Noemí D, Liascovich, Rosa, Groisman, Boris, Rittler, Mónica, Rozental, Sandra, Barbero, Pablo, Dain, Liliana

Volltext

Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency von Fernández, Cecilia S., Bruque, Carlos D., Taboas, Melisa, Buzzalino, Noemí D., Espeche, Lucia D., Pasqualini, Titania, Charreau, Eduardo H., Alba, Liliana G., Ghiringhelli, Pablo D., Dain, Liliana

Volltext

Acknowledgment to the Reviewers of IGenes/I in 2022

Volltext

Structural and optical properties of nanocrystalline mayenite Ca^sub 12^Al^sub 14^O^sub 33^ powders synthesized using a novel route von Rashad, M M, Mostafa, A G, Rayan, D A

Volltext