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B Romero

Showing results (191-200 of 337) with videos related to

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Stem Cell Research|March 19, 2021
Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 geneJoshua S Clayton, Carolin K Scriba, Norma B Romero, et al.
Pediatric Transplantation|February 8, 2012
Serum soluble interleukin 2 receptor (sIL-2R) as a marker of acute rejection in renal transplant childrenP García-Roca, Y A Vargas, Y Fuentes, et al.
Cell|August 26, 1994
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophyS L Roberds, F Leturcq, V Allamand, et al.
Neurogenetics|December 4, 2003
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian familiesNacim Louhichi, Chahnez Triki, Susana Quijano-Roy, et al.
Comptes Rendus De L'Academie Des Sciences. Serie III, Sciences De La Vie|January 1, 1994
Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiencyN B Romero, F M Tomé, F Leturcq, et al.
Stem Cell Research|April 7, 2024
Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 geneJoshua S Clayton, Christina Vo, Jordan Crane, et al.
European Journal of Medical Genetics|September 26, 2015
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathyEdoardo Malfatti, Soledad Monges, Vilma-Lotta Lehtokari, et al.
Preventive Veterinary Medicine|November 16, 2016
Is targeted removal a suitable means for tuberculosis control in wild boar?A Che'Amat, J A Armenteros, D González-Barrio, et al.
Stem Cell Research|April 6, 2024
Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 geneJoshua S Clayton, Christina Vo, Jordan Crane, et al.
Neuromuscular Disorders : NMD|November 24, 2016
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutationJean-Baptiste Noury, Johann Böhm, Georges Arielle Peche, et al.
Pageof 34

Showing results (191-200 of 337) with videos related to

Sort By:
Pageof 34
Stem Cell Research|March 19, 2021
Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 geneJoshua S Clayton, Carolin K Scriba, Norma B Romero, et al.
Pediatric Transplantation|February 8, 2012
Serum soluble interleukin 2 receptor (sIL-2R) as a marker of acute rejection in renal transplant childrenP García-Roca, Y A Vargas, Y Fuentes, et al.
Cell|August 26, 1994
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophyS L Roberds, F Leturcq, V Allamand, et al.
Neurogenetics|December 4, 2003
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian familiesNacim Louhichi, Chahnez Triki, Susana Quijano-Roy, et al.
Comptes Rendus De L'Academie Des Sciences. Serie III, Sciences De La Vie|January 1, 1994
Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiencyN B Romero, F M Tomé, F Leturcq, et al.
Stem Cell Research|April 7, 2024
Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 geneJoshua S Clayton, Christina Vo, Jordan Crane, et al.
European Journal of Medical Genetics|September 26, 2015
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathyEdoardo Malfatti, Soledad Monges, Vilma-Lotta Lehtokari, et al.
Preventive Veterinary Medicine|November 16, 2016
Is targeted removal a suitable means for tuberculosis control in wild boar?A Che'Amat, J A Armenteros, D González-Barrio, et al.
Stem Cell Research|April 6, 2024
Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 geneJoshua S Clayton, Christina Vo, Jordan Crane, et al.
Neuromuscular Disorders : NMD|November 24, 2016
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutationJean-Baptiste Noury, Johann Böhm, Georges Arielle Peche, et al.
Pageof 34