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Marta Codina-Solà

Showing results (11-20 of 29) with videos related to

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Clinical Genetics|December 22, 2022
Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A geneArnau Llauradó, Eulalia Rovira-Moreno, Marta Codina-Solà, et al.
Molecular Biology and Evolution|November 20, 2015
Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in LiverJohannes Engelken, Guadalupe Espadas, Francesco M Mancuso, et al.
Neuromuscular Disorders : NMD|April 29, 2023
Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related diseaseJuan Luis Restrepo-Vera, Patricia Muñoz-Cabello, Jordi Pérez-Rodon, et al.
Neurology. Genetics|July 22, 2024
Complex <i>SMN</i> Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular AtrophyMar Costa-Roger, Laura Blasco-Pérez, Lorene Gerin, et al.
Molecular Autism|May 14, 2015
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disordersMarta Codina-Solà, Benjamín Rodríguez-Santiago, Aïda Homs, et al.
Medrxiv : the Preprint Server for Health Sciences|September 16, 2024
Mutations in the U2 snRNA gene <i>RNU2-2P</i> cause a severe neurodevelopmental disorder with prominent epilepsyDaniel Greene, Koenraad De Wispelaere, Jon Lees, et al.
European Journal of Human Genetics : EJHG|November 29, 2022
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family historyMarta Codina-Solà, Laura Trujillano, Anna Abulí, et al.
International Journal of Molecular Sciences|August 12, 2022
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2Laura Blasco-Pérez, Mar Costa-Roger, Jordi Leno-Colorado, et al.
Neuromuscular Disorders : NMD|January 6, 2024
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the NetherlandsEmanuela Abiusi, Mar Costa-Roger, Enrico Silvio Bertini, et al.
Frontiers in Immunology|June 6, 2018
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and BeyondGuillem de Valles-Ibáñez, Ana Esteve-Solé, Mònica Piquer, et al.
Pageof 3

Showing results (11-20 of 29) with videos related to

Sort By:
Pageof 3
Clinical Genetics|December 22, 2022
Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A geneArnau Llauradó, Eulalia Rovira-Moreno, Marta Codina-Solà, et al.
Molecular Biology and Evolution|November 20, 2015
Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in LiverJohannes Engelken, Guadalupe Espadas, Francesco M Mancuso, et al.
Neuromuscular Disorders : NMD|April 29, 2023
Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related diseaseJuan Luis Restrepo-Vera, Patricia Muñoz-Cabello, Jordi Pérez-Rodon, et al.
Neurology. Genetics|July 22, 2024
Complex <i>SMN</i> Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular AtrophyMar Costa-Roger, Laura Blasco-Pérez, Lorene Gerin, et al.
Molecular Autism|May 14, 2015
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disordersMarta Codina-Solà, Benjamín Rodríguez-Santiago, Aïda Homs, et al.
Medrxiv : the Preprint Server for Health Sciences|September 16, 2024
Mutations in the U2 snRNA gene <i>RNU2-2P</i> cause a severe neurodevelopmental disorder with prominent epilepsyDaniel Greene, Koenraad De Wispelaere, Jon Lees, et al.
European Journal of Human Genetics : EJHG|November 29, 2022
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family historyMarta Codina-Solà, Laura Trujillano, Anna Abulí, et al.
International Journal of Molecular Sciences|August 12, 2022
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2Laura Blasco-Pérez, Mar Costa-Roger, Jordi Leno-Colorado, et al.
Neuromuscular Disorders : NMD|January 6, 2024
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the NetherlandsEmanuela Abiusi, Mar Costa-Roger, Enrico Silvio Bertini, et al.
Frontiers in Immunology|June 6, 2018
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and BeyondGuillem de Valles-Ibáñez, Ana Esteve-Solé, Mònica Piquer, et al.
Pageof 3