المؤلفون: Vishnopolska, Sebastian Alexis, Mercogliano, Maria Florencia, Camilletti, Maria Andrea, Mortensen, Amanda Helen, Braslavsky, Debora, Keselman, Ana, Bergadá, Ignacio, Olivieri, Federico, Miranda, Lucas, Marino, Roxana, Ramírez, Pablo, Garrido, Natalia Pérez, Mejia, Helen Patiño, Ciaccio, Marta, Di Palma, Maria Isabel, Belgorosky, Alicia, Martí, Marcelo Adrian, Kitzman, Jacob Otto, Camper, Sally Ann, Pérez-Millán, Maria Ines

المصدر: Journal of Clinical Endocrinology & Metabolism; Jul2021, Vol. 106 Issue 7, p1956-1976, 21p

مصطلحات موضوعية: SOMATOTROPIN, GENETIC variation, PITUITARY dwarfism, MISSENSE mutation, FIBROBLAST growth factor receptors, SMALL for gestational age, RESEARCH, ENDOCRINE diseases, GENETIC mutation, HYPOPITUITARISM, GENETICS, RESEARCH methodology, GENETIC testing, GENETIC polymorphisms, MEDICAL cooperation, EVALUATION research, COMPARATIVE studies, RESEARCH funding, TRANSCRIPTION factors, PHENOTYPES

مصطلحات جغرافية: ARGENTINA

المؤلفون: Vishnopolska, Sebastián Alexis, Mercogliano, María Florencia, Camilletti, María Andrea, Mortensen, Amanda Helen, Braslavsky, Debora Giselle, Keselman, Ana Claudia, Bergadá, Ignacio, Olivieri, Federico Alberto, Miranda, Lucas, Marino, Roxana Marcela, Ramírez, Pablo, Pérez Garrido, Nora, Patiño Mejia, Helena, Ciaccio, Marta Graciela Cristina, Di Palma, María Isabel, Belgorosky, Alicia, Marti, Marcelo Adrian, Kitzman, Jacob Otto, Camper, Sally Ann, Pérez Millán, María Inés

مصطلحات موضوعية: CONGENITAL HYPOPITUITARISM, GENETIC SCREENING, SINGLE MOLECULE MOLECULAR INVERSION PROBES, VARIANTS, https://purl.org/becyt/ford/3.1, https://purl.org/becyt/ford/3

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: http://hdl.handle.net/11336/162818; Vishnopolska, Sebastián Alexis; Mercogliano, María Florencia; Camilletti, María Andrea; Mortensen, Amanda Helen; Braslavsky, Debora Giselle; et al.; Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders; Endocrine Society; Journal of Clinical Endocrinology and Metabolism; 106; 7; 3-2021; 1956-1976; CONICET Digital; CONICET

الاتاحة: http://hdl.handle.net/11336/162818