Search research articles
Contact Us
Filters
Showing results (1-10 of 29) with videos related to
Page
of 3
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 23, 2026
Response to Saleem et al
Irene Valenzuela, Marta Codina-Solà, Eduardo F Tizzano
Journal of Autism and Developmental Disorders
|
July 7, 2017
Provision of Genetic Services for Autism and its Impact on Spanish Families
Marta Codina-Solà, Luis A Pérez-Jurado, Ivon Cuscó, et al.
Genes
|
September 23, 2022
Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows
John N Milligan, Laura Blasco-Pérez, Mar Costa-Roger, et al.
Genetics in Medicine Open
|
December 13, 2024
The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era
Eulàlia Rovira-Moreno, Anna Abulí, Patricia Muñoz-Cabello, et al.
Clinical Genetics
|
May 22, 2024
Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier-Gorlin syndrome variant
Yosra Mehrjoo, Philippe M Campeau, Lama Al Abdi, et al.
Muscle & Nerve
|
January 12, 2023
Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant
Arnau Llauradó, Margarida Gratacòs-Viñola, Eulàlia Rovira-Moreno, et al.
Open Biology
|
July 23, 2024
A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1α interaction
Lorraine Glennie, Marta Codina Solà, Mar Xunclà, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 6, 2024
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome
Irene Valenzuela, Marta Codina-Solà, Elida Vazquez, et al.
Journal of Medical Genetics
|
January 5, 2023
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples
Anna Abulí, Mar Costa-Roger, Marta Codina-Solà, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 6, 2025
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome
Irene Valenzuela, Marta Codina-Solà, Elida Vazquez, et al.
Page
of 3
Search research articles
Search
Showing results (1-10 of 29) with videos related to
Sort By:
Page
of 3
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 23, 2026
Response to Saleem et al
Irene Valenzuela, Marta Codina-Solà, Eduardo F Tizzano
Journal of Autism and Developmental Disorders
|
July 7, 2017
Provision of Genetic Services for Autism and its Impact on Spanish Families
Marta Codina-Solà, Luis A Pérez-Jurado, Ivon Cuscó, et al.
Genes
|
September 23, 2022
Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows
John N Milligan, Laura Blasco-Pérez, Mar Costa-Roger, et al.
Genetics in Medicine Open
|
December 13, 2024
The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era
Eulàlia Rovira-Moreno, Anna Abulí, Patricia Muñoz-Cabello, et al.
Clinical Genetics
|
May 22, 2024
Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier-Gorlin syndrome variant
Yosra Mehrjoo, Philippe M Campeau, Lama Al Abdi, et al.
Muscle & Nerve
|
January 12, 2023
Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant
Arnau Llauradó, Margarida Gratacòs-Viñola, Eulàlia Rovira-Moreno, et al.
Open Biology
|
July 23, 2024
A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1α interaction
Lorraine Glennie, Marta Codina Solà, Mar Xunclà, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 6, 2024
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome
Irene Valenzuela, Marta Codina-Solà, Elida Vazquez, et al.
Journal of Medical Genetics
|
January 5, 2023
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples
Anna Abulí, Mar Costa-Roger, Marta Codina-Solà, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 6, 2025
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome
Irene Valenzuela, Marta Codina-Solà, Elida Vazquez, et al.
Page
of 3