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Stem Cell Research
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May 4, 2024
Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector
Rodolfo Tonin, Federica Feo, Silvia Falliano, et al.
Stem Cell Research
|
February 7, 2024
Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector
Rodolfo Tonin, Federica Feo, Silvia Falliano, et al.
European Journal of Human Genetics : EJHG
|
January 27, 2019
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity
Elena Cellini, Annalisa Vetro, Valerio Conti, et al.
Molecular Genetics and Metabolism
|
August 19, 2017
Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation
Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, et al.
Neurology
|
March 15, 2015
Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function
Valerio Conti, Patrizia Aracri, Laura Chiti, et al.
Scientific Reports
|
May 21, 2026
Optimized nuclei isolation and snRNA-seq reveal oligodendrocyte pathway dysregulation in MOGHE brain tissue from pediatric patients
Clara Tuccari di San Carlo, Roberto Semeraro, Valentina Cetica, et al.
Epilepsia
|
April 13, 2011
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations
Nicola Specchio, Carla Marini, Alessandra Terracciano, et al.
Journal of Pharmaceutical and Biomedical Analysis
|
October 1, 2013
The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry
Giancarlo la Marca, Elisa Giocaliere, Sabrina Malvagia, et al.
Epilepsia Open
|
July 8, 2022
An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real-world practice setting: A report from the Fenfluramine European Early Access Program
Renzo Guerrini, Nicola Specchio, Ángel Aledo-Serrano, et al.
Epilepsia
|
June 7, 2014
Co-occurring malformations of cortical development and SCN1A gene mutations
Carmen Barba, Elena Parrini, Roland Coras, et al.
Page
of 62
Search research articles
Search
Showing results (291-300 of 611) with videos related to
Sort By:
Page
of 62
Stem Cell Research
|
May 4, 2024
Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector
Rodolfo Tonin, Federica Feo, Silvia Falliano, et al.
Stem Cell Research
|
February 7, 2024
Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector
Rodolfo Tonin, Federica Feo, Silvia Falliano, et al.
European Journal of Human Genetics : EJHG
|
January 27, 2019
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity
Elena Cellini, Annalisa Vetro, Valerio Conti, et al.
Molecular Genetics and Metabolism
|
August 19, 2017
Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation
Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, et al.
Neurology
|
March 15, 2015
Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function
Valerio Conti, Patrizia Aracri, Laura Chiti, et al.
Scientific Reports
|
May 21, 2026
Optimized nuclei isolation and snRNA-seq reveal oligodendrocyte pathway dysregulation in MOGHE brain tissue from pediatric patients
Clara Tuccari di San Carlo, Roberto Semeraro, Valentina Cetica, et al.
Epilepsia
|
April 13, 2011
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations
Nicola Specchio, Carla Marini, Alessandra Terracciano, et al.
Journal of Pharmaceutical and Biomedical Analysis
|
October 1, 2013
The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry
Giancarlo la Marca, Elisa Giocaliere, Sabrina Malvagia, et al.
Epilepsia Open
|
July 8, 2022
An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real-world practice setting: A report from the Fenfluramine European Early Access Program
Renzo Guerrini, Nicola Specchio, Ángel Aledo-Serrano, et al.
Epilepsia
|
June 7, 2014
Co-occurring malformations of cortical development and SCN1A gene mutations
Carmen Barba, Elena Parrini, Roland Coras, et al.
Page
of 62