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Raquel Rabionet

Showing results (31-40 of 63) with videos related to

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Journal of Clinical Pathology|October 2, 2014
Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromesIrene Madrigal, Maria Isabel Alvarez-Mora, Olof Karlberg, et al.
Human Mutation|April 27, 2019
eDiVA-Classification and prioritization of pathogenic variants for clinical diagnosticsMattia Bosio, Oliver Drechsel, Rubayte Rahman, et al.
American Journal of Medical Genetics. Part A|April 29, 2025
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense VariantsRoser Urreizti, Jessica Vissicchio, Mohamed Idries, et al.
Neurogenetics|November 19, 2009
Novel variants identified in methyl-CpG-binding domain genes in autistic individualsHolly N Cukier, Raquel Rabionet, Ioanna Konidari, et al.
Scientific Reports|January 28, 2022
Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorderLaura Domènech, Jesse Willis, Maria Alemany-Navarro, et al.
The Journal of Investigative Dermatology|April 4, 2016
Identification of Gene Mutations and Fusion Genes in Patients with Sézary SyndromeAparna Prasad, Raquel Rabionet, Blanca Espinet, et al.
Neuroscience Letters|November 16, 2004
Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genesRaquel Rabionet, James M Jaworski, Allison E Ashley-Koch, et al.
Journal of Clinical Laboratory Analysis|December 20, 2023
High-throughput RNA sequencing of the T cell receptor alpha and beta chains for simultaneous clonality and biological analyses in Sezary syndromeGonzalo Blanco, Daniel López-Aventín, Ramon M Pujol, et al.
Scientific Reports|March 16, 2019
Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic ArthritisRaquel Rabionet, Agustín Remesal, Anna Mensa-Vilaró, et al.
The American Journal of Psychiatry|May 2, 2006
Lack of association between autism and SLC25A12Raquel Rabionet, Jacob L McCauley, James M Jaworski, et al.
Pageof 7

Showing results (31-40 of 63) with videos related to

Sort By:
Pageof 7
Journal of Clinical Pathology|October 2, 2014
Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromesIrene Madrigal, Maria Isabel Alvarez-Mora, Olof Karlberg, et al.
Human Mutation|April 27, 2019
eDiVA-Classification and prioritization of pathogenic variants for clinical diagnosticsMattia Bosio, Oliver Drechsel, Rubayte Rahman, et al.
American Journal of Medical Genetics. Part A|April 29, 2025
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense VariantsRoser Urreizti, Jessica Vissicchio, Mohamed Idries, et al.
Neurogenetics|November 19, 2009
Novel variants identified in methyl-CpG-binding domain genes in autistic individualsHolly N Cukier, Raquel Rabionet, Ioanna Konidari, et al.
Scientific Reports|January 28, 2022
Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorderLaura Domènech, Jesse Willis, Maria Alemany-Navarro, et al.
The Journal of Investigative Dermatology|April 4, 2016
Identification of Gene Mutations and Fusion Genes in Patients with Sézary SyndromeAparna Prasad, Raquel Rabionet, Blanca Espinet, et al.
Neuroscience Letters|November 16, 2004
Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genesRaquel Rabionet, James M Jaworski, Allison E Ashley-Koch, et al.
Journal of Clinical Laboratory Analysis|December 20, 2023
High-throughput RNA sequencing of the T cell receptor alpha and beta chains for simultaneous clonality and biological analyses in Sezary syndromeGonzalo Blanco, Daniel López-Aventín, Ramon M Pujol, et al.
Scientific Reports|March 16, 2019
Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic ArthritisRaquel Rabionet, Agustín Remesal, Anna Mensa-Vilaró, et al.
The American Journal of Psychiatry|May 2, 2006
Lack of association between autism and SLC25A12Raquel Rabionet, Jacob L McCauley, James M Jaworski, et al.
Pageof 7