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Health Science Reports
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May 5, 2022
Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13-year multidisciplinary approach
Maria Francesca Di Feo, Cinzia Bettio, Valentina Salsi, et al.
European Journal of Neurology
|
February 17, 2026
Over-Representation of TTN Truncating Variants in a Finnish Cohort of Patients With Axial Myopathy
Maria Francesca Di Feo, Giuliana Capece, Marco Savarese, et al.
Case Reports in Medicine
|
January 1, 2025
Congenital Nasal Bones Agenesis: Report of a Rare Malformation
Monica Russo, Chiara Ferrecchi, Silvia Rebella, et al.
European Journal of Neurology
|
November 17, 2025
Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe
Veronica Sian, Maria Francesca Di Feo, Sergei Kurbatov, et al.
Journal of Medical Genetics
|
March 28, 2023
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum
Maria Francesca Di Feo, Victoria Lillback, Manu Jokela, et al.
American Journal of Medical Genetics. Part A
|
February 6, 2024
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review
Ferruccio Romano, Maria K Haanpää, Pawel Pomianowski, et al.
Journal of Medical Genetics
|
March 5, 2025
Gene prioritisation for enhancing molecular diagnosis in rare skeletal muscle disease cohort
Victoria Lillback, Gaber Bergant, Maria Francesca Di Feo, et al.
Neuromuscular Disorders : NMD
|
November 13, 2025
Novel missense variants associated with GNE myopathy
Johanna Ranta-Aho, Viviana Cetrangolo, Luca Bello, 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.
Annals of Clinical and Translational Neurology
|
August 29, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrum
Maria Francesca Di Feo, Ali Oghabian, Ella Nippala, et al.
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Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
Health Science Reports
|
May 5, 2022
Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13-year multidisciplinary approach
Maria Francesca Di Feo, Cinzia Bettio, Valentina Salsi, et al.
European Journal of Neurology
|
February 17, 2026
Over-Representation of TTN Truncating Variants in a Finnish Cohort of Patients With Axial Myopathy
Maria Francesca Di Feo, Giuliana Capece, Marco Savarese, et al.
Case Reports in Medicine
|
January 1, 2025
Congenital Nasal Bones Agenesis: Report of a Rare Malformation
Monica Russo, Chiara Ferrecchi, Silvia Rebella, et al.
European Journal of Neurology
|
November 17, 2025
Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe
Veronica Sian, Maria Francesca Di Feo, Sergei Kurbatov, et al.
Journal of Medical Genetics
|
March 28, 2023
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum
Maria Francesca Di Feo, Victoria Lillback, Manu Jokela, et al.
American Journal of Medical Genetics. Part A
|
February 6, 2024
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review
Ferruccio Romano, Maria K Haanpää, Pawel Pomianowski, et al.
Journal of Medical Genetics
|
March 5, 2025
Gene prioritisation for enhancing molecular diagnosis in rare skeletal muscle disease cohort
Victoria Lillback, Gaber Bergant, Maria Francesca Di Feo, et al.
Neuromuscular Disorders : NMD
|
November 13, 2025
Novel missense variants associated with GNE myopathy
Johanna Ranta-Aho, Viviana Cetrangolo, Luca Bello, 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.
Annals of Clinical and Translational Neurology
|
August 29, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrum
Maria Francesca Di Feo, Ali Oghabian, Ella Nippala, et al.
Page
of 2