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European Journal of Human Genetics : EJHG
|
July 16, 2021
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Elke de Boer, Charlotte W Ockeloen, Leslie Matalonga, et al.
European Journal of Human Genetics : EJHG
|
June 2, 2021
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Elke de Boer, Charlotte W Ockeloen, Leslie Matalonga, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 21, 2012
Cord blood-derived neuronal cells by ectopic expression of Sox2 and c-Myc
Alessandra Giorgetti, Maria C N Marchetto, Mo Li, et al.
NPJ Genomic Medicine
|
October 27, 2024
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
German Demidov, Burcu Yaldiz, José Garcia-Pelaez, et al.
Cell Genomics
|
February 23, 2023
Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases
Alberto Corvò, Leslie Matalonga, Dylan Spalding, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 24, 2025
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations
Maria Francesca Di Feo, Ida Paramonov, Leslie Matalonga Borrel, et al.
Brain : a Journal of Neurology
|
November 18, 2021
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases
Semra Hiz Kurul, Yavuz Oktay, Ana Töpf, et al.
Archivos De Bronconeumologia
|
April 8, 2020
Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia
Noelia Baz-Redón, Sandra Rovira-Amigo, Ida Paramonov, et al.
Human Mutation
|
February 18, 2022
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
Steven Laurie, Davide Piscia, Leslie Matalonga, et al.
Nature Genetics
|
September 9, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
Vicente A Yépez, German Demidov, Kornelia Ellwanger, et al.
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Search research articles
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Showing results (21-30 of 33) with videos related to
Sort By:
Page
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European Journal of Human Genetics : EJHG
|
July 16, 2021
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Elke de Boer, Charlotte W Ockeloen, Leslie Matalonga, et al.
European Journal of Human Genetics : EJHG
|
June 2, 2021
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Elke de Boer, Charlotte W Ockeloen, Leslie Matalonga, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 21, 2012
Cord blood-derived neuronal cells by ectopic expression of Sox2 and c-Myc
Alessandra Giorgetti, Maria C N Marchetto, Mo Li, et al.
NPJ Genomic Medicine
|
October 27, 2024
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
German Demidov, Burcu Yaldiz, José Garcia-Pelaez, et al.
Cell Genomics
|
February 23, 2023
Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases
Alberto Corvò, Leslie Matalonga, Dylan Spalding, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 24, 2025
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations
Maria Francesca Di Feo, Ida Paramonov, Leslie Matalonga Borrel, et al.
Brain : a Journal of Neurology
|
November 18, 2021
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases
Semra Hiz Kurul, Yavuz Oktay, Ana Töpf, et al.
Archivos De Bronconeumologia
|
April 8, 2020
Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia
Noelia Baz-Redón, Sandra Rovira-Amigo, Ida Paramonov, et al.
Human Mutation
|
February 18, 2022
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
Steven Laurie, Davide Piscia, Leslie Matalonga, et al.
Nature Genetics
|
September 9, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
Vicente A Yépez, German Demidov, Kornelia Ellwanger, et al.
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of 4