Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Africa Manero-Azua

Showing results (1-10 of 12) with videos related to

Pageof 2
Sort By:
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.
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.
Journal of Personalized Medicine|September 28, 2023
<i>C9ORF72</i> Gene GGGGCC Hexanucleotide Expansion: A High Clinical Variability from Amyotrophic Lateral Sclerosis to Frontotemporal DementiaIzaro Kortazar-Zubizarreta, Africa Manero-Azua, Juan Afonso-Agüera, 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.
Revista Espanola De Patologia : Publicacion Oficial De La Sociedad Espanola De Anatomia Patologica Y De La Sociedad Espanola De Citologia|April 19, 2025
Multidisciplinary approach to reach a foetal diagnosis of Walker-Warburg syndrome: From autopsy to genetics and backAnna Sifre-Ruiz, Cristina Esquina-Rodriguez, Africa Manero-Azua, et al.
European Journal of Neurology|December 6, 2025
The Risk of Transmission of Genetic Prion Diseases is Greater Than 50Izaro Kortazar-Zubizarreta, Africa Manero-Azua, Hasier Eraña, 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.
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 valueIzaro Kortazar-Zubizarreta, Hasier Eraña, Arrate Pereda, et al.
Clinical Epigenetics|May 20, 2026
Concordant epigenetic and discordant clinical PHP1B/iPPSD3 manifestations in two monozygotic adolescent twinsGustavo Perez-Nanclares, Africa Manero-Azua, Gema Grau, et al.
Plos Pathogens|June 25, 2025
A comprehensive phylogeny of mammalian PRNP gene reveals no influence of prion misfolding propensity on the evolution of this geneCristina Sampedro-Torres-Quevedo, Hasier Eraña, Jorge M Charco, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
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.
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.
Journal of Personalized Medicine|September 28, 2023
<i>C9ORF72</i> Gene GGGGCC Hexanucleotide Expansion: A High Clinical Variability from Amyotrophic Lateral Sclerosis to Frontotemporal DementiaIzaro Kortazar-Zubizarreta, Africa Manero-Azua, Juan Afonso-Agüera, 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.
Revista Espanola De Patologia : Publicacion Oficial De La Sociedad Espanola De Anatomia Patologica Y De La Sociedad Espanola De Citologia|April 19, 2025
Multidisciplinary approach to reach a foetal diagnosis of Walker-Warburg syndrome: From autopsy to genetics and backAnna Sifre-Ruiz, Cristina Esquina-Rodriguez, Africa Manero-Azua, et al.
European Journal of Neurology|December 6, 2025
The Risk of Transmission of Genetic Prion Diseases is Greater Than 50Izaro Kortazar-Zubizarreta, Africa Manero-Azua, Hasier Eraña, 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.
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 valueIzaro Kortazar-Zubizarreta, Hasier Eraña, Arrate Pereda, et al.
Clinical Epigenetics|May 20, 2026
Concordant epigenetic and discordant clinical PHP1B/iPPSD3 manifestations in two monozygotic adolescent twinsGustavo Perez-Nanclares, Africa Manero-Azua, Gema Grau, et al.
Plos Pathogens|June 25, 2025
A comprehensive phylogeny of mammalian PRNP gene reveals no influence of prion misfolding propensity on the evolution of this geneCristina Sampedro-Torres-Quevedo, Hasier Eraña, Jorge M Charco, et al.
Pageof 2