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Mercedes Robledo

Showing results (31-40 of 215) with videos related to

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Archives of Endocrinology and Metabolism|April 7, 2026
A novel activating somatic mutation in EPAS1, coding for HIF-2α, in a patient with a paraganglioma and sickle cell diseaseKalyan Mansukhbhai Shekhda, Rishi Iyer, Mercedes Robledo, et al.
Nucleic Acids Research|June 25, 2004
PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional levelLucía Conde, Juan M Vaquerizas, Javier Santoyo, et al.
Human Mutation|June 1, 2010
Are we overestimating the penetrance of mutations in SDHB?Francesca Schiavi, Roger L Milne, Emma Anda, et al.
Journal of the American Academy of Dermatology|July 16, 2005
Cowden disease in a family: a clinical and genetic diagnosisCristina Mangas, Josep Maria Hilari, Miquel Ribera, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|March 21, 2007
Neurofibromatosis 1, and Not TP53, seems to be the main target of chromosome 17 deletions in de novo acute myeloid leukemiaJavier Suela, Cristina Largo, Bibiana Ferreira, et al.
Cancer Research|April 19, 2003
Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2AMercedes Robledo, Laura Gil, Marina Pollán, et al.
Gastroenterologia Y Hepatologia|January 29, 2009
[Clinical and molecular features in a family with multiple endocrine neoplasia type-1 syndrome]Angel Cosme, Mariano Alvarez, Adolfo Beguiristain, et al.
Medicina Clinica|February 15, 2018
Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancerJosé Luis Soto, Ignacio Blanco, Orland Díez, et al.
Endocrine-Related Cancer|November 17, 2017
Characterization of neuroendocrine tumors in heterozygous mutant MENX rats: a novel model of invasive medullary thyroid carcinomaSara Molatore, Andrea Kügler, Martin Irmler, et al.
American Journal of Medical Genetics. Part A|June 25, 2004
Malignant degeneration of presacral teratoma in the Currarino anomalyMiguel Urioste, M del Carmen Garcia-Andrade, Laura Valle, et al.
Pageof 22

Showing results (31-40 of 215) with videos related to

Sort By:
Pageof 22
Archives of Endocrinology and Metabolism|April 7, 2026
A novel activating somatic mutation in EPAS1, coding for HIF-2α, in a patient with a paraganglioma and sickle cell diseaseKalyan Mansukhbhai Shekhda, Rishi Iyer, Mercedes Robledo, et al.
Nucleic Acids Research|June 25, 2004
PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional levelLucía Conde, Juan M Vaquerizas, Javier Santoyo, et al.
Human Mutation|June 1, 2010
Are we overestimating the penetrance of mutations in SDHB?Francesca Schiavi, Roger L Milne, Emma Anda, et al.
Journal of the American Academy of Dermatology|July 16, 2005
Cowden disease in a family: a clinical and genetic diagnosisCristina Mangas, Josep Maria Hilari, Miquel Ribera, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|March 21, 2007
Neurofibromatosis 1, and Not TP53, seems to be the main target of chromosome 17 deletions in de novo acute myeloid leukemiaJavier Suela, Cristina Largo, Bibiana Ferreira, et al.
Cancer Research|April 19, 2003
Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2AMercedes Robledo, Laura Gil, Marina Pollán, et al.
Gastroenterologia Y Hepatologia|January 29, 2009
[Clinical and molecular features in a family with multiple endocrine neoplasia type-1 syndrome]Angel Cosme, Mariano Alvarez, Adolfo Beguiristain, et al.
Medicina Clinica|February 15, 2018
Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancerJosé Luis Soto, Ignacio Blanco, Orland Díez, et al.
Endocrine-Related Cancer|November 17, 2017
Characterization of neuroendocrine tumors in heterozygous mutant MENX rats: a novel model of invasive medullary thyroid carcinomaSara Molatore, Andrea Kügler, Martin Irmler, et al.
American Journal of Medical Genetics. Part A|June 25, 2004
Malignant degeneration of presacral teratoma in the Currarino anomalyMiguel Urioste, M del Carmen Garcia-Andrade, Laura Valle, et al.
Pageof 22