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Carmen Prior

Showing results (11-20 of 16) with videos related to

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European Journal of Medical Genetics|February 22, 2021
Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal alleleClara Gómez-González, Rocío Rosas-Alonso, Carlos Rodríguez-Antolín, et al.
Annals of Human Genetics|December 20, 2021
Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 geneClara Gómez-González, Cristina Pizarro-Sánchez, Carlos Rodríguez-Antolín, et al.
Cellular and Molecular Life Sciences : CMLS|January 25, 2016
Fast skeletal myofibers of mdx mouse, model of Duchenne muscular dystrophy, express connexin hemichannels that lead to apoptosisLuis A Cea, Carlos Puebla, Bruno A Cisterna, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|December 27, 2023
Molecular diagnosis of cystic fibrosis by RNA obtained from nasal epithelial cellsCarmen Prior-de Castro, Miguel Ángel Martínez Gallego, Clara Gómez-González, et al.
Brain : a Journal of Neurology|April 12, 2023
Cation leak through the ATP1A3 pump causes spasticity and intellectual disabilityDaniel G Calame, Cristina Moreno Vadillo, Seth Berger, et al.
Molecular Genetics & Genomic Medicine|January 25, 2017
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfectaJose A Caparros-Martin, Mona S Aglan, Samia Temtamy, et al.
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Showing results (11-20 of 16) with videos related to

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Pageof 2
You have reached the last page of results.This site can display upto 16 results.
European Journal of Medical Genetics|February 22, 2021
Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal alleleClara Gómez-González, Rocío Rosas-Alonso, Carlos Rodríguez-Antolín, et al.
Annals of Human Genetics|December 20, 2021
Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 geneClara Gómez-González, Cristina Pizarro-Sánchez, Carlos Rodríguez-Antolín, et al.
Cellular and Molecular Life Sciences : CMLS|January 25, 2016
Fast skeletal myofibers of mdx mouse, model of Duchenne muscular dystrophy, express connexin hemichannels that lead to apoptosisLuis A Cea, Carlos Puebla, Bruno A Cisterna, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|December 27, 2023
Molecular diagnosis of cystic fibrosis by RNA obtained from nasal epithelial cellsCarmen Prior-de Castro, Miguel Ángel Martínez Gallego, Clara Gómez-González, et al.
Brain : a Journal of Neurology|April 12, 2023
Cation leak through the ATP1A3 pump causes spasticity and intellectual disabilityDaniel G Calame, Cristina Moreno Vadillo, Seth Berger, et al.
Molecular Genetics & Genomic Medicine|January 25, 2017
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfectaJose A Caparros-Martin, Mona S Aglan, Samia Temtamy, et al.
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