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European Journal of Human Genetics : EJHG
|
March 13, 2015
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study
Intza Garin, Giovanna Mantovani, Urko Aguirre, et al.
European Journal of Human Genetics : EJHG
|
July 10, 2014
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study
Intza Garin, Giovanna Mantovani, Urko Aguirre, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 17, 2015
Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms
Intza Garin, Francesca M Elli, Agnes Linglart, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation
|
May 23, 2018
Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1
Nadia Ayasreh, Gemma Bullich, Rosa Miquel, et al.
European Journal of Endocrinology
|
July 13, 2016
From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network
Susanne Thiele, Giovanna Mantovani, Anne Barlier, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 6, 2010
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
Intza Garin, Emma L Edghill, Ildem Akerman, et al.
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Search research articles
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Showing results (31-40 of 36) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 36 results.
European Journal of Human Genetics : EJHG
|
March 13, 2015
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study
Intza Garin, Giovanna Mantovani, Urko Aguirre, et al.
European Journal of Human Genetics : EJHG
|
July 10, 2014
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study
Intza Garin, Giovanna Mantovani, Urko Aguirre, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 17, 2015
Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms
Intza Garin, Francesca M Elli, Agnes Linglart, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation
|
May 23, 2018
Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1
Nadia Ayasreh, Gemma Bullich, Rosa Miquel, et al.
European Journal of Endocrinology
|
July 13, 2016
From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network
Susanne Thiele, Giovanna Mantovani, Anne Barlier, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 6, 2010
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
Intza Garin, Emma L Edghill, Ildem Akerman, et al.
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of 4