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Miriam Aza-Carmona

Showing results (1-10 of 31) with videos related to

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Genes|January 20, 2019
Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair DisordersMaria Marín, María José Ramírez, Miriam Aza Carmona, et al.
Journal of Pediatric Genetics|January 25, 2020
Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 MutationRosario Ramos Mejía, Miriam Aza-Carmona, Mariana Del Pino, et al.
European Journal of Medical Genetics|March 22, 2021
Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variantsMariana Del Pino, Maria José Sanchez-Soler, Manuel Parrón-Pajares, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|August 10, 2011
Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutationsMiriam Aza-Carmona, Ana Coral Barreda-Bonis, Julio Guerrero-Fernández, et al.
Journal of Pediatric Genetics|August 14, 2019
SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New MutationMariana Del Pino, Miriam Aza-Carmona, David Medino-Martín, et al.
European Journal of Human Genetics : EJHG|November 11, 2011
Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short statureSara Benito-Sanz, Miriam Aza-Carmona, Amaya Rodríguez-Estevez, et al.
Orphanet Journal of Rare Diseases|July 2, 2020
High content drug screening for Fanconi anemia therapeuticsHelena Montanuy, Cristina Camps-Fajol, Jordi Carreras-Puigvert, et al.
Genes|June 27, 2024
A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the <i>PHEX</i> GeneGloria Fraga, M Alba Herreros, Marc Pybus, et al.
Human Mutation|August 31, 2006
PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probandsSara Benito-Sanz, Darya Gorbenko del Blanco, Miriam Aza-Carmona, et al.
Plos One|January 15, 2014
NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal developmentMiriam Aza-Carmona, Veronica Barca-Tierno, Alfonso Hisado-Oliva, et al.
Pageof 4

Showing results (1-10 of 31) with videos related to

Sort By:
Pageof 4
Genes|January 20, 2019
Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair DisordersMaria Marín, María José Ramírez, Miriam Aza Carmona, et al.
Journal of Pediatric Genetics|January 25, 2020
Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 MutationRosario Ramos Mejía, Miriam Aza-Carmona, Mariana Del Pino, et al.
European Journal of Medical Genetics|March 22, 2021
Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variantsMariana Del Pino, Maria José Sanchez-Soler, Manuel Parrón-Pajares, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|August 10, 2011
Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutationsMiriam Aza-Carmona, Ana Coral Barreda-Bonis, Julio Guerrero-Fernández, et al.
Journal of Pediatric Genetics|August 14, 2019
SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New MutationMariana Del Pino, Miriam Aza-Carmona, David Medino-Martín, et al.
European Journal of Human Genetics : EJHG|November 11, 2011
Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short statureSara Benito-Sanz, Miriam Aza-Carmona, Amaya Rodríguez-Estevez, et al.
Orphanet Journal of Rare Diseases|July 2, 2020
High content drug screening for Fanconi anemia therapeuticsHelena Montanuy, Cristina Camps-Fajol, Jordi Carreras-Puigvert, et al.
Genes|June 27, 2024
A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the <i>PHEX</i> GeneGloria Fraga, M Alba Herreros, Marc Pybus, et al.
Human Mutation|August 31, 2006
PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probandsSara Benito-Sanz, Darya Gorbenko del Blanco, Miriam Aza-Carmona, et al.
Plos One|January 15, 2014
NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal developmentMiriam Aza-Carmona, Veronica Barca-Tierno, Alfonso Hisado-Oliva, et al.
Pageof 4