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Molecular Genetics and Metabolism|January 9, 2018
A frame-shift deletion in the PURA gene associates with a new clinical finding: Hypoglycorrhachia. Is GLUT1 a new PURA target?Lía Mayorga, Beatriz Gamboni, Alejandra Mampel, et al.
Cellular and Molecular Neurobiology|January 1, 2003
Allopregnanolone increase in striatal N-methyl-D-aspartic acid evoked [3H]dopamine release is estrogen and progesterone dependentRicardo J Cabrera, Claudia Bregonzio, Myriam Laconi, et al.
Medicina|May 10, 2011
[Numeric alterations in the dys gene and their association with clinical features]Alejandra Mampel, María Inés Echeverría, Ana Lía Vargas, et al.
Cancer Genetics|November 21, 2021
Double heterozygous pathogenic variants in the BRCA1 and BRCA2 genes in a patient with bilateral metachronous breast cancerAlejandra Mampel, Mayra L Sottile, Silvina P Denita-Juárez, et al.
Muscle & Nerve|November 18, 2008
Asymptomatic Becker muscular dystrophy in a family with a multiexon deletionVerónica Ferreiro, Florencia Giliberto, García M Noelia Muñiz, et al.
Frontiers in Oncology|September 7, 2018
<i>BRCA1</i> and <i>BRCA2</i> Mutations Other Than the Founder Alleles Among Ashkenazi Jewish in the Population of ArgentinaAngela R Solano, Natalia C Liria, Fernanda S Jalil, et al.
Biological Research|December 22, 2024
Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across Latin AmericaNatalia Landeros, Laura Vargas-Roig, Silvina Denita, et al.
Breast Cancer Research and Treatment|May 24, 2022
PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in ArgentinaAriana Gonzalez, Franco Del Greco, Laura Vargas-Roig, et al.
Clinical Dysmorphology|October 5, 2010
Cantu syndrome and lymphoedemaDiana García-Cruz, Alejandra Mampel, Maria I Echeverria, et al.
European Journal of Cancer (Oxford, England : 1990)|August 24, 2019
A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registriesAdriana Della Valle, Benedito Mauro Rossi, Edenir Inêz Palmero, et al.
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