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Isabel Di Palma
Isabel Di Palma
Gene
Medicine
GLI2
Posterior pituitary
Internal medicine
4
Papers
7
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0
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SAT-069 Advantages of Next Generation Sequencing (NGS) in Hypophosphatemic Disorders Diagnosis. First Case of SLC9A3R1 Gene Pathogenic Variant Detected in a Pediatric Patient
2020
Journal of the Endocrine Society
Biochemist Pablo Ramirez
Isabel Di Palma
Gisela Viterbo
Biochemist Natalia Isabel Perez-Garrido
Biochemist Matias Pujana
Matias Juanes
Alicia Belgorosky
Roxana Marino
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Two novel heterozygous missense variations within the GLI2 gene in two unrelated argentine patients
2016
Medicina-buenos Aires
Matias Juanes
Isabel Di Palma
Marta Ciaccio
Roxana Marino
Pablo Ramirez
Natalia Pérez Garrid
Mercedes Maceiras
Juan Manuel Lazzati
Marco A. Rivarola
Alicia Belgorosky
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Two Novel Mutations in GLI2 Gene in Two Unrelated Argentinean Prepuberal Patients, One with Isolated Growth Hormone Deficiency, and Another with Multiple Pituitary Hormone Deficiency, Both with Developmental Defects in Posterior Pituitary Gland
2015
Roxana Marino
Matias Juanes
Pablo Ramirez
Natalia Perez Garrido
Marta Ciaccio
Isabel Di Palma
Mercedes Maceiras
Juan Manuel Lazzati
Marco A. Rivarola
Alicia Belgorosky
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Presence of GH1 and absence of GHRHR gene mutations in a large cohort of Argentinian patients with severe short stature and isolated GH deficiency
2014
Clinical Endocrinology
Matias Juanes
Roxana Marino
Marta Ciaccio
Isabel Di Palma
Pablo Ramirez
Diana Monica Warman
Valeria De Dona
Eduardo Chaler
Mercedes Maceiras
Marco A. Rivarola
Alicia Belgorosky
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Citations (6)
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