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Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen–Kolk syndrome

Frontiers in Genetics; Año: 2024 vol. 15

BUONFIGLIO, PAULA INÉS; IZQUIERDO, AGUSTÍN; PACE, MARIELA VANINA; GRINBERG, SOFIA; LOTERSZTEIN, VANESA; BRUN, PALOMA; BRUQUE, CARLOS DAVID; ELGOYHEN, ANA BELÉN; DALAMÓN, VIVIANA

Comprehensive Approach for the Genetic Diagnosis of Patients with Waardenburg Syndrome

Journal of Personalized Medicine; Año: 2024 vol. 14

CORREA BRITO, LOURDES; GRINSPON, ROMINA P.; LOPEZ DACAL, JIMENA; SCAGLIA, PAULA; ESNAOLA AZCOITI, MARÍA; IZQUIERDO, AGUSTÍN; ROPELATO, MARÍA GABRIELA; REY, RODOLFO A.

Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development

Journal of Personalized Medicine; Lugar: Basilea ; Año: 2023 vol. 13

NATALE, MÓNICA INÉS; MANZUR, GRACIELA BEATRIZ; LUSSO, SILVINA BEATRIZ; CELLA, ELIANA; GIOVO, MARÍA ELSA; ANDRADA, ROMINA; GOITIA, JUANA; FERNÁNDEZ, MARÍA FLORENCIA; DELLA GIOVANNA, PATRICIA SILVIA; GUILLAMONDEGUI, MARÍA JOSÉ; DOMÍNGUEZ, MARIÁNGELES; GUTIÉRREZ, OLGA; IZQUIERDO, AGUSTÍN; HERNÁNDEZ HERRERA, HELIANA; VELÁZQUEZ PERDOMO, LUZ GRACIELA; MISTCHENKO, ALICIA SUSANA; VALINOTTO, LAURA ELENA

Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype–phenotype correlation

AMERICAN JOURNAL OF MEDICAL GENETICS PART A; Año: 2022 vol. 188 p. 3153 - 3161

CASTRO, SEBASTIÁN; BRUNELLO, FRANCO G.; SANSÓ, GABRIELA; SCAGLIA, PAULA; ESNAOLA AZCOITI, MARÍA; IZQUIERDO, AGUSTÍN; VILLEGAS, FLORENCIA; BERGADÁ, IGNACIO; ROPELATO, MARÍA GABRIELA; MARTÍ, MARCELO A.; REY, RODOLFO A.; GRINSPON, ROMINA P.

Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report

Frontiers in Pediatrics; Año: 2022 vol. 10

CASTRO, SEBASTIÁN; BRUNELLO, FRANCO G.; SANSÓ, GABRIELA; SCAGLIA, PAULA; ESNAOLA AZCOITI, MARÍA; IZQUIERDO, AGUSTÍN; VILLEGAS, FLORENCIA; BERGADÁ, IGNACIO; ROPELATO, MARÍA GABRIELA; MARTÍ, MARCELO A.; REY, RODOLFO A.; GRINSPON, ROMINA P.

Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report

Frontiers in Pediatrics; Año: 2022 vol. 10

BLAZQUEZ, ANA CATALINA; BERENSTEIN, ARIEL JOSÉ; TORRES, CAROLINA; IZQUIERDO, AGUSTÍN; LEZAMA, CAROL; MOSCATELLI, GUILLERMO; DE MATTEO, ELENA NOEMÍ; LORENZETTI, MARIO ALEJANDRO; PRECIADO, MARÍA VICTORIA

Comprehensive evolutionary analysis of complete epstein–barr virus genomes from argentina and other geographies

Viruses; Año: 2021 vol. 13

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Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease

Proceedings; Año: 2020 vol. 76

LOPEZ LEONARDO; IZQUIERDO AGUSTIN; DARÍO MANZOLI; PABLO BELDOMÉNICO

A myiasis model for Philornis torquans (Diptera: Muscidae) and Pitangus sul-phuratus (Passeriformes: Tyrannidae)

ECOLOGICAL MODELLING; Lugar: Amsterdam; Año: 2016 vol. 328 p. 62 - 71