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

Arrate Pereda

Showing results (11-20 of 41) with videos related to

Pageof 5
Sort By:
Journal of Pediatric Endocrinology & Metabolism : JPEM|June 20, 2014
Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassificationArrate Pereda, Sharona Azriel, Mariona Bonet, et al.
Genes|December 9, 2020
Novel Variant in <i>PLAG1</i> in a Familial Case with Silver-Russell Syndrome SuspicionYerai Vado, Arrate Pereda, Isabel Llano-Rivas, et al.
American Journal of Medical Genetics. Part A|December 8, 2015
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature reviewCecile Thomas-Teinturier, Arrate Pereda, Intza Garin, et al.
Orphanet Journal of Rare Diseases|September 14, 2013
Brachydactyly E: isolated or as a feature of a syndromeArrate Pereda, Intza Garin, Maria Garcia-Barcina, et al.
American Journal of Medical Genetics. Part A|February 18, 2017
The p.R56* mutation in PTHLH causes variable brachydactyly type EArrate Pereda, Lucia Garzon-Lorenzo, Intza Garin, et al.
BMC Medical Genomics|December 28, 2018
Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case reportYerai Vado, Javier Errea-Dorronsoro, Isabel Llano-Rivas, et al.
European Journal of Neurology|June 1, 2021
Sporadic Creutzfeldt-Jakob disease with extremely long 14-year survival periodIzaro Kortazar-Zubizarreta, Rebeca Ruiz-Onandi, Arrate Pereda, et al.
Medicina Clinica|July 27, 2023
[Vitamin D deficiency in adulthood: Presentation of 2familial cases simulating pseudohypoparathyroidism]África Manero-Azua, Arrate Pereda, Natalia González Cabrera, et al.
Human Molecular Genetics|October 11, 2017
Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3Claire Briet, Arrate Pereda, Catherine Le Stunff, et al.
Acta Diabetologica|October 14, 2018
Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literatureAmeni Touati, Javier Errea-Dorronsoro, Sonia Nouri, et al.
Pageof 5

Showing results (11-20 of 41) with videos related to

Sort By:
Pageof 5
Journal of Pediatric Endocrinology & Metabolism : JPEM|June 20, 2014
Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassificationArrate Pereda, Sharona Azriel, Mariona Bonet, et al.
Genes|December 9, 2020
Novel Variant in <i>PLAG1</i> in a Familial Case with Silver-Russell Syndrome SuspicionYerai Vado, Arrate Pereda, Isabel Llano-Rivas, et al.
American Journal of Medical Genetics. Part A|December 8, 2015
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature reviewCecile Thomas-Teinturier, Arrate Pereda, Intza Garin, et al.
Orphanet Journal of Rare Diseases|September 14, 2013
Brachydactyly E: isolated or as a feature of a syndromeArrate Pereda, Intza Garin, Maria Garcia-Barcina, et al.
American Journal of Medical Genetics. Part A|February 18, 2017
The p.R56* mutation in PTHLH causes variable brachydactyly type EArrate Pereda, Lucia Garzon-Lorenzo, Intza Garin, et al.
BMC Medical Genomics|December 28, 2018
Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case reportYerai Vado, Javier Errea-Dorronsoro, Isabel Llano-Rivas, et al.
European Journal of Neurology|June 1, 2021
Sporadic Creutzfeldt-Jakob disease with extremely long 14-year survival periodIzaro Kortazar-Zubizarreta, Rebeca Ruiz-Onandi, Arrate Pereda, et al.
Medicina Clinica|July 27, 2023
[Vitamin D deficiency in adulthood: Presentation of 2familial cases simulating pseudohypoparathyroidism]África Manero-Azua, Arrate Pereda, Natalia González Cabrera, et al.
Human Molecular Genetics|October 11, 2017
Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3Claire Briet, Arrate Pereda, Catherine Le Stunff, et al.
Acta Diabetologica|October 14, 2018
Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literatureAmeni Touati, Javier Errea-Dorronsoro, Sonia Nouri, et al.
Pageof 5