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Intza Garin

Showing results (1-10 of 36) with videos related to

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BMC Medical Genetics|March 4, 2018
What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosisArrate Pereda, Intza Garin, , et al.
Methods in Molecular Biology (Clifton, N.J.)|April 2, 2018
The Use of Methylation-Sensitive Multiplex Ligation-Dependent Probe Amplification for Quantification of Imprinted MethylationAna Monteagudo-Sánchez, Intza Garin, Guiomar Perez de Nanclares, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|January 29, 2014
Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndromeAngela Domínguez-García, Rosa Martínez, Inés Urrutia, et al.
Frontiers in Genetics|October 19, 2023
Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?Africa Manero-Azua, Arrate Pereda, Isabel Llano-Rivas, et al.
Pediatric Endocrinology Reviews : PER|January 3, 2018
The Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support AssociationsAgnès Linglart, Giovanna Mantovani, Intza Garin, et al.
European Journal of Human Genetics : EJHG|September 13, 2012
Clinical utility gene card for: pseudohypoparathyroidismGiovanna Mantovani, Agnes Linglart, Intza Garin, et al.
Clinical Endocrinology|February 22, 2018
Progressive osseous heteroplasia caused by a mosaic GNAS mutationArrate Pereda, Jose Maria Martos-Tello, Intza Garin, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|June 20, 2014
Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassificationArrate Pereda, Sharona Azriel, Mariona Bonet, et al.
Plos One|January 12, 2012
Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS geneIntza Garin, Guiomar Perez de Nanclares, Elena Gastaldo, et al.
Anales De Pediatria|January 23, 2019
[Glucose and galactose malabsorption: A new case in Spain]Blanca Lodoso-Torrecilla, Guiomar Perez de Nanclares, Intza Garin, et al.
Pageof 4

Showing results (1-10 of 36) with videos related to

Sort By:
Pageof 4
BMC Medical Genetics|March 4, 2018
What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosisArrate Pereda, Intza Garin, , et al.
Methods in Molecular Biology (Clifton, N.J.)|April 2, 2018
The Use of Methylation-Sensitive Multiplex Ligation-Dependent Probe Amplification for Quantification of Imprinted MethylationAna Monteagudo-Sánchez, Intza Garin, Guiomar Perez de Nanclares, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|January 29, 2014
Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndromeAngela Domínguez-García, Rosa Martínez, Inés Urrutia, et al.
Frontiers in Genetics|October 19, 2023
Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?Africa Manero-Azua, Arrate Pereda, Isabel Llano-Rivas, et al.
Pediatric Endocrinology Reviews : PER|January 3, 2018
The Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support AssociationsAgnès Linglart, Giovanna Mantovani, Intza Garin, et al.
European Journal of Human Genetics : EJHG|September 13, 2012
Clinical utility gene card for: pseudohypoparathyroidismGiovanna Mantovani, Agnes Linglart, Intza Garin, et al.
Clinical Endocrinology|February 22, 2018
Progressive osseous heteroplasia caused by a mosaic GNAS mutationArrate Pereda, Jose Maria Martos-Tello, Intza Garin, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|June 20, 2014
Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassificationArrate Pereda, Sharona Azriel, Mariona Bonet, et al.
Plos One|January 12, 2012
Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS geneIntza Garin, Guiomar Perez de Nanclares, Elena Gastaldo, et al.
Anales De Pediatria|January 23, 2019
[Glucose and galactose malabsorption: A new case in Spain]Blanca Lodoso-Torrecilla, Guiomar Perez de Nanclares, Intza Garin, et al.
Pageof 4