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European Journal of Endocrinology
|
December 25, 2010
Polymorphisms at the regulatory regions of the CASR gene influence stone risk in primary hyperparathyroidism
Giuseppe Vezzoli, Alfredo Scillitani, Sabrina Corbetta, et al.
Human Molecular Genetics
|
February 27, 2019
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants
Carmela Fusco, Grazia Nardella, Rita Fischetto, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 4, 2014
Increased prevalence of the GCM2 polymorphism, Y282D, in primary hyperparathyroidism: analysis of three Italian cohorts
Leonardo D'Agruma, Michela Coco, Vito Guarnieri, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
November 5, 2024
Possible role of bone turnover markers in the diagnosis of adult hypophosphatasia
Francesco Bertoldo, Giovanni Tripepi, Martina Zaninotto, et al.
Plos One
|
December 17, 2013
Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene
Valerio Pazienza, Annamaria la Torre, Filomena Baorda, et al.
Cellular Oncology (Dordrecht, Netherlands)
|
September 19, 2012
CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort
Vito Guarnieri, Claudia Battista, Lucia Anna Muscarella, et al.
Biological Psychiatry
|
February 13, 2004
Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism
Monica Conciatori, Christopher J Stodgell, Susan L Hyman, et al.
Frontiers in Endocrinology
|
August 21, 2023
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia
Luigia Cinque, Flavia Pugliese, Antonio Stefano Salcuni, et al.
Human Genetics
|
April 20, 2023
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
Maria Pia Leone, Silvia Morlino, Grazia Nardella, et al.
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of 8
Search research articles
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Showing results (71-80 of 79) with videos related to
Sort By:
Page
of 8
You have reached the last page of results.
This site can display upto 79 results.
European Journal of Endocrinology
|
December 25, 2010
Polymorphisms at the regulatory regions of the CASR gene influence stone risk in primary hyperparathyroidism
Giuseppe Vezzoli, Alfredo Scillitani, Sabrina Corbetta, et al.
Human Molecular Genetics
|
February 27, 2019
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants
Carmela Fusco, Grazia Nardella, Rita Fischetto, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 4, 2014
Increased prevalence of the GCM2 polymorphism, Y282D, in primary hyperparathyroidism: analysis of three Italian cohorts
Leonardo D'Agruma, Michela Coco, Vito Guarnieri, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
November 5, 2024
Possible role of bone turnover markers in the diagnosis of adult hypophosphatasia
Francesco Bertoldo, Giovanni Tripepi, Martina Zaninotto, et al.
Plos One
|
December 17, 2013
Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene
Valerio Pazienza, Annamaria la Torre, Filomena Baorda, et al.
Cellular Oncology (Dordrecht, Netherlands)
|
September 19, 2012
CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort
Vito Guarnieri, Claudia Battista, Lucia Anna Muscarella, et al.
Biological Psychiatry
|
February 13, 2004
Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism
Monica Conciatori, Christopher J Stodgell, Susan L Hyman, et al.
Frontiers in Endocrinology
|
August 21, 2023
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia
Luigia Cinque, Flavia Pugliese, Antonio Stefano Salcuni, et al.
Human Genetics
|
April 20, 2023
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
Maria Pia Leone, Silvia Morlino, Grazia Nardella, et al.
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of 8