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Minerva Endocrinology
|
October 26, 2020
Normocalcemic primary hyperparathyroidism: an update
Antonio S Salcuni, Claudia Battista, Flavia Pugliese, et al.
Biomolecular Engineering
|
December 6, 2006
Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis
Lucia Anna Muscarella, Maria Rosaria Piemontese, Raffaela Barbano, et al.
JBMR Plus
|
September 22, 2025
A novel missense variant of the calcium-sensing receptor gene associated with familial hypocalciuric hypercalcemia
Martina Laganà, Anna Maria Grieco, Vito Guarnieri, et al.
Biomedicines
|
December 23, 2020
Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature
Luigia Cinque, Cristina Angeletti, Alfredo Orrico, et al.
BMC Endocrine Disorders
|
October 9, 2014
A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria
Eugenio Mastromatteo, Olga Lamacchia, Michela Rosaria Campo, et al.
Best Practice & Research. Clinical Endocrinology & Metabolism
|
December 16, 2018
Parathyroid carcinoma
Antonio Stefano Salcuni, Filomena Cetani, Vito Guarnieri, et al.
Human Mutation
|
June 30, 2019
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations
Carmela Fusco, Massimiliano Copetti, Tommaso Mazza, et al.
Genes
|
September 28, 2023
Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors
Antongiulio Faggiano, Beatrice Fazzalari, Nevena Mikovic, et al.
BMC Pediatrics
|
November 28, 2019
Correction to: Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation
Manuela Capozza, Iolanda Chinellato, Vito Guarnieri, et al.
BMC Pediatrics
|
November 1, 2018
Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation
Manuela Capozza, Iolanda Chinellato, Vito Guarnieri, et al.
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of 8
Search research articles
Search
Showing results (11-20 of 79) with videos related to
Sort By:
Page
of 8
Minerva Endocrinology
|
October 26, 2020
Normocalcemic primary hyperparathyroidism: an update
Antonio S Salcuni, Claudia Battista, Flavia Pugliese, et al.
Biomolecular Engineering
|
December 6, 2006
Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis
Lucia Anna Muscarella, Maria Rosaria Piemontese, Raffaela Barbano, et al.
JBMR Plus
|
September 22, 2025
A novel missense variant of the calcium-sensing receptor gene associated with familial hypocalciuric hypercalcemia
Martina Laganà, Anna Maria Grieco, Vito Guarnieri, et al.
Biomedicines
|
December 23, 2020
Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature
Luigia Cinque, Cristina Angeletti, Alfredo Orrico, et al.
BMC Endocrine Disorders
|
October 9, 2014
A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria
Eugenio Mastromatteo, Olga Lamacchia, Michela Rosaria Campo, et al.
Best Practice & Research. Clinical Endocrinology & Metabolism
|
December 16, 2018
Parathyroid carcinoma
Antonio Stefano Salcuni, Filomena Cetani, Vito Guarnieri, et al.
Human Mutation
|
June 30, 2019
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations
Carmela Fusco, Massimiliano Copetti, Tommaso Mazza, et al.
Genes
|
September 28, 2023
Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors
Antongiulio Faggiano, Beatrice Fazzalari, Nevena Mikovic, et al.
BMC Pediatrics
|
November 28, 2019
Correction to: Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation
Manuela Capozza, Iolanda Chinellato, Vito Guarnieri, et al.
BMC Pediatrics
|
November 1, 2018
Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation
Manuela Capozza, Iolanda Chinellato, Vito Guarnieri, et al.
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of 8