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B Romero

Showing results (201-210 of 337) with videos related to

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Stem Cell Research|November 29, 2023
Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 geneKarrison Driver, Christina Vo, Carolin K Scriba, et al.
Public Health Nutrition|June 2, 2024
A simulation study to improve calcium intake through wheat flour fortificationGabriela Cormick, Iris B Romero, María B Puchulu, et al.
Muscle & Nerve|August 5, 2014
Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathyClaudia Castiglioni, Denis Cassandrini, Fabiana Fattori, et al.
Human Molecular Genetics|September 23, 2010
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in miceAnne-Cécile Durieux, Alban Vignaud, Bernard Prudhon, et al.
Human Molecular Genetics|September 22, 2017
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathyMatthieu A Raess, Belinda S Cowling, Dimitri L Bertazzi, et al.
Human Genetics|January 11, 2003
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotypeValérie Biancalana, Olivier Caron, Sabina Gallati, et al.
Clinical Genetics|November 25, 2016
A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosisM Garibaldi, F Fattori, B Riva, et al.
Muscle & Nerve|July 20, 2018
Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasiaMiguel M Pinto, Soledad Monges, Edoardo Malfatti, et al.
Research in Veterinary Science|June 2, 2018
Evaluation of the use of a needle-free injection syringe as a cause of non-specific reactions in the intradermal tuberculin test used for the diagnosis of bovine tuberculosisA Díez-Guerrier, A Roy, M L de la Cruz, et al.
Stem Cell Research|July 24, 2024
Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variantJoshua S Clayton, Christina Vo, Jordan Crane, et al.
Pageof 34

Showing results (201-210 of 337) with videos related to

Sort By:
Pageof 34
Stem Cell Research|November 29, 2023
Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 geneKarrison Driver, Christina Vo, Carolin K Scriba, et al.
Public Health Nutrition|June 2, 2024
A simulation study to improve calcium intake through wheat flour fortificationGabriela Cormick, Iris B Romero, María B Puchulu, et al.
Muscle & Nerve|August 5, 2014
Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathyClaudia Castiglioni, Denis Cassandrini, Fabiana Fattori, et al.
Human Molecular Genetics|September 23, 2010
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in miceAnne-Cécile Durieux, Alban Vignaud, Bernard Prudhon, et al.
Human Molecular Genetics|September 22, 2017
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathyMatthieu A Raess, Belinda S Cowling, Dimitri L Bertazzi, et al.
Human Genetics|January 11, 2003
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotypeValérie Biancalana, Olivier Caron, Sabina Gallati, et al.
Clinical Genetics|November 25, 2016
A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosisM Garibaldi, F Fattori, B Riva, et al.
Muscle & Nerve|July 20, 2018
Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasiaMiguel M Pinto, Soledad Monges, Edoardo Malfatti, et al.
Research in Veterinary Science|June 2, 2018
Evaluation of the use of a needle-free injection syringe as a cause of non-specific reactions in the intradermal tuberculin test used for the diagnosis of bovine tuberculosisA Díez-Guerrier, A Roy, M L de la Cruz, et al.
Stem Cell Research|July 24, 2024
Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variantJoshua S Clayton, Christina Vo, Jordan Crane, et al.
Pageof 34