MUGNAINI JULIA
Congresos y reuniones científicas
MUGNAINI J; MARQUES I; BUJEDO E; ARGARAÑA CE; DODELSON DE KREMER R; OLLER RAMÍREZ AM
AN EXPERIENCE IN MOLECULAR DIAGNOSIS IN ARGENTINEAN PATIENTS WITH CYSTIC FIBROSIS. CURRENT AND FUTURE CHALLENGES.
XI Latin American Congress of Inborn Errors or Metabolism and Neonatal Screening.
Lugar: Buenos Aires; Año: 2019;
MUGNAINI J; ARGARAÑA CE; DODELSON DE KREMER R; OLLER RAMÍREZ AM
AN UPDATE ON THE SITUATION OF SANDHOFF DISEASE IN CORDOBA, ARGENTINA: THE WORLD'S HIGHEST-RISK POPULATION.
SSIEM 2019 Annual Symposium
Lugar: Rotterdam; Año: 2019;
MUGNAINI J; MARQUES I; BUJEDO E; ARGARAÑA CE; DODELSON DE KREMER R; OLLER RAMÍREZ AM
FIBROSIS QUISTICA. DIAGNÓSTICO MOLECULAR ¿DONDE ESTAMOS Y HACIA DONDE VAMOS?
5to Congreso Argentino de Fibrosis Quística
Lugar: Buenos Aires; Año: 2019;
MUGNAINI J; PEREYRA M; DODELSON DE KREMER R; ARGARAÑA CE; OLLER RAMÍREZ AM
Juvenile form of Sandhoff disease: first case reported in Argentina.
AvH Kolleg 2017. CURRENT ADVANCES ON NEURODEGENERATION: FROM MOLECULAR BIOLOGY TO TRANSLATIONAL MEDICINE
Lugar: Córdoba; Año: 2017;
MUGNAINI J; BRASIL S; DESVIAT L; DODELSON DE KREMER R; ARGARAÑA C; PEREZ B; OLLER RAMÍREZ AM
FUNCTIONAL ANALYSIS OF COMMON SPLICING MUTATIONS DETECTED IN HEXB GENE CAUSING SANDHOFF DISEASE
SSIEM 2016 Annual Symposium
Lugar: Roma; Año: 2016;
OLLER RAMÍREZ AM; BOTELLI M; MUGNAINI J; GUELBERT N; DODELSON DE KREMER R
FIBROSIS QUÍSTICA. CARACTERIZACIÓN MOLECULAR DE 381 PACIENTES Y FAMILIARES ARGENTINOS.
XLXXX Congreso Argentino de Genética
Lugar: Bariloche; Año: 2014;
OLLER RAMÍREZ AM; BOTELLI M; MUGNAINI J; GUELBERT N; DODELSON DE KREMER R
CYSTIC FIBROSIS. MOLECULAR CHARACTERIZATION OF 381 ARGENTINEAN CYSTIC FIBROSIS PATIENTS AND HETEROZYGOTES.
14th International Conference on Neuronal Ceroid Lipofuscinoses (Batten Disease)
Lugar: Córdoba; Año: 2014;
MUGNAINI J; DARDIS A; AZAR NB; BECERRA AB; AMOROSI CA; ZAMPIERI S; DODELSON DE KREMER R; OLLER RAMÍREZ AM
NEW MUTATIONAL SPECTRUM OF SANDHOFF DISEASE IN ARGENTINA AND POPULATION BASED STUDY
12th International Congress of Inborn Errors of metabolism (ICIEM)
Lugar: Barcelona; Año: 2013;
MUGNAINI J; DARDIS A; AZAR NB; BECERRA AB; AMOROSI CA; ZAMPIERI S; GUELBERT N; DODELSON DE KREMER R; OLLER RAMÍREZ AM
POPULATION BASED STUDY IN ARGENTINA OF NEW MUTATIONS CAUSING SANDHOFF DISEASE
IX Congreso Latinoamericano de Errores Innatos del Metabolismo y pesquisa Neonatal (SLEIMP)
Lugar: Medellín; Año: 2013;
MARTINEZ LD; AZAR NB; MUGNAINI J
ORAL MANIFESTATIONS IN PATIENTS WITH LYSOSOMAL DISEASE: A SYSTEMATIC REVIEW
45th Annual Meeting of the Argentine Society for Dental Research
Lugar: Los Cocos, Córdoba; Año: 2012;
OLLER RAMÍREZ AM; DARDIS A; ZAMPIERI S; AZAR NB ; BEMBI B; MUGNAINI J; DODELSON DE KREMER R
IDENTIFICATION OF NEW MUTATIONS IN THE HEXB GENE IN ARGENTINIAN PATIENTS WITH SANDHOFF DISEASE (SD)
VIII Congreso Latino Americano de Errores innatos del Metabolismo y Pesquisa Neonatal
Lugar: Cusco; Año: 2011;