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Arrate Pereda

Showing results (1-10 of 41) 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.
Frontiers in Endocrinology|January 23, 2023
Frequency of <i>de novo</i> variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2Yerai Vado, Arrate Pereda, Africa Manero-Azua, et al.
Genes|January 23, 2024
Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS)Yerai Vado, Africa Manero-Azua, Arrate Pereda, et al.
Medicina Clinica|January 12, 2017
Erratum to «Pseudopseudohypoparathyroidism vs. progressive osseous heteroplasia in absence of family history»Arrate Pereda, Eva González Oliva, Isolina Riaño-Galán, et al.
Medicina Clinica|April 14, 2015
[Pseudopseudohypoparathyroidism vs progressive osseous heteroplasia in absence of family history]Arrate Pereda, Eva González Oliva, Isolina Riaño-Galán, et al.
Best Practice & Research. Clinical Endocrinology & Metabolism|January 23, 2019
Parathyroid hormone resistance syndromes - Inactivating PTH/PTHrP signaling disorders (iPPSDs)Francesca Marta Elli, Arrate Pereda, Agnès Linglart, et al.
Anales De Pediatria|April 11, 2017
[Brachydactyly type C due to a nonsense mutation in the GDF5 gene]Lourdes Travieso-Suárez, Arrate Pereda, Jesús Pozo-Román, 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.
Clinical Endocrinology|February 22, 2018
Progressive osseous heteroplasia caused by a mosaic GNAS mutationArrate Pereda, Jose Maria Martos-Tello, Intza Garin, et al.
Frontiers in Endocrinology|December 31, 2024
Heterodisomy in the <i>GNAS</i> locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3)Africa Manero-Azua, Yerai Vado, Judith Gonzàlez Morlà, et al.
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Showing results (1-10 of 41) with videos related to

Sort By:
Pageof 5
BMC Medical Genetics|March 4, 2018
What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosisArrate Pereda, Intza Garin, , et al.
Frontiers in Endocrinology|January 23, 2023
Frequency of <i>de novo</i> variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2Yerai Vado, Arrate Pereda, Africa Manero-Azua, et al.
Genes|January 23, 2024
Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS)Yerai Vado, Africa Manero-Azua, Arrate Pereda, et al.
Medicina Clinica|January 12, 2017
Erratum to «Pseudopseudohypoparathyroidism vs. progressive osseous heteroplasia in absence of family history»Arrate Pereda, Eva González Oliva, Isolina Riaño-Galán, et al.
Medicina Clinica|April 14, 2015
[Pseudopseudohypoparathyroidism vs progressive osseous heteroplasia in absence of family history]Arrate Pereda, Eva González Oliva, Isolina Riaño-Galán, et al.
Best Practice & Research. Clinical Endocrinology & Metabolism|January 23, 2019
Parathyroid hormone resistance syndromes - Inactivating PTH/PTHrP signaling disorders (iPPSDs)Francesca Marta Elli, Arrate Pereda, Agnès Linglart, et al.
Anales De Pediatria|April 11, 2017
[Brachydactyly type C due to a nonsense mutation in the GDF5 gene]Lourdes Travieso-Suárez, Arrate Pereda, Jesús Pozo-Román, 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.
Clinical Endocrinology|February 22, 2018
Progressive osseous heteroplasia caused by a mosaic GNAS mutationArrate Pereda, Jose Maria Martos-Tello, Intza Garin, et al.
Frontiers in Endocrinology|December 31, 2024
Heterodisomy in the <i>GNAS</i> locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3)Africa Manero-Azua, Yerai Vado, Judith Gonzàlez Morlà, et al.
Pageof 5