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European Journal of Endocrinology
|
December 3, 2020
Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients
Arrate Pereda, Francesca M Elli, Suzanne Thiele, et al.
Journal of Neuropathology and Experimental Neurology
|
December 2, 2022
Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value
Izaro Kortazar-Zubizarreta, Hasier Eraña, Arrate Pereda, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 19, 2016
The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network
Francesca Marta Elli, Agnès Linglart, Intza Garin, et al.
Clinical Epigenetics
|
May 20, 2026
Concordant epigenetic and discordant clinical PHP1B/iPPSD3 manifestations in two monozygotic adolescent twins
Gustavo Perez-Nanclares, Africa Manero-Azua, Gema Grau, et al.
Journal of Neurology
|
March 16, 2022
Description of the first Spanish case of Gerstmann-Sträussler-Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization
Hasier Eraña, Beatriz San Millán, Carlos M Díaz-Domínguez, et al.
European Journal of Endocrinology
|
April 2, 2025
Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes
Atilano Carcavilla, Arrate Pereda, Mami Miyado, et al.
European Journal of Endocrinology
|
July 13, 2023
Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations
Diana-Alexandra Ertl, Guiomar Perez de Nanclares, Harald Jüppner, 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.
Journal of Medical Genetics
|
February 13, 2021
Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome
Joan Sabria-Back, Ana Monteagudo-Sánchez, Marta Sánchez-Delgado, et al.
Frontiers in Neurology
|
March 3, 2020
Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis
Sergio Aguilera-Albesa, Ana Belén de la Hoz, Nekane Ibarluzea, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 41) with videos related to
Sort By:
Page
of 5
European Journal of Endocrinology
|
December 3, 2020
Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients
Arrate Pereda, Francesca M Elli, Suzanne Thiele, et al.
Journal of Neuropathology and Experimental Neurology
|
December 2, 2022
Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value
Izaro Kortazar-Zubizarreta, Hasier Eraña, Arrate Pereda, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 19, 2016
The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network
Francesca Marta Elli, Agnès Linglart, Intza Garin, et al.
Clinical Epigenetics
|
May 20, 2026
Concordant epigenetic and discordant clinical PHP1B/iPPSD3 manifestations in two monozygotic adolescent twins
Gustavo Perez-Nanclares, Africa Manero-Azua, Gema Grau, et al.
Journal of Neurology
|
March 16, 2022
Description of the first Spanish case of Gerstmann-Sträussler-Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization
Hasier Eraña, Beatriz San Millán, Carlos M Díaz-Domínguez, et al.
European Journal of Endocrinology
|
April 2, 2025
Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes
Atilano Carcavilla, Arrate Pereda, Mami Miyado, et al.
European Journal of Endocrinology
|
July 13, 2023
Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations
Diana-Alexandra Ertl, Guiomar Perez de Nanclares, Harald Jüppner, 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.
Journal of Medical Genetics
|
February 13, 2021
Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome
Joan Sabria-Back, Ana Monteagudo-Sánchez, Marta Sánchez-Delgado, et al.
Frontiers in Neurology
|
March 3, 2020
Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis
Sergio Aguilera-Albesa, Ana Belén de la Hoz, Nekane Ibarluzea, et al.
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