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International Journal of Molecular Sciences
|
January 8, 2025
Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis
Pinella Failla, Lucia Saccuzzo, Ornella Galesi, et al.
Prenatal Diagnosis
|
September 30, 2006
Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome
Daniela Turchetti, Elisabetta Razzaboni, Hila Zomer, et al.
Gene
|
July 31, 2025
Investigating the role of a novel hemizygous FAAH2 variant in neurological and metabolic disorders
Mirella Vinci, Donatella Greco, Simone Treccarichi, et al.
American Journal of Medical Genetics. Part A
|
November 12, 2013
3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients
Santina Città, Serafino Buono, Donatella Greco, et al.
Medicina (Kaunas, Lithuania)
|
July 30, 2025
Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants
Vittoria Greco, Donatella Greco, Simone Treccarichi, et al.
International Journal of Molecular Sciences
|
July 12, 2025
Strengthening the Role of <i>PSMC5</i> as a Potential Gene Associated with Neurodevelopmental Disorders
Mirella Vinci, Antonino Musumeci, Carla Papa, et al.
L'Encephale
|
February 18, 2026
Habilitative and rehabilitative educational interventions as protective factors against cognitive decline in adults with Down syndrome: A retrospective study
Marilena Recupero, Tommasa Zagaria, Flaviana Elia, et al.
Genes
|
August 29, 2024
Bioinformatic Evaluation of <i>KLF13</i> Genetic Variant: Implications for Neurodevelopmental and Psychiatric Symptoms
Mirella Vinci, Donatella Greco, Simone Treccarichi, et al.
International Journal of Molecular Sciences
|
May 14, 2025
Potential Association of the <i>CSMD1</i> Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive-Compulsive Personality Traits
Antonino Musumeci, Mirella Vinci, Simone Treccarichi, et al.
Current Issues in Molecular Biology
|
July 26, 2024
Implications of a <i>De Novo</i> Variant in the <i>SOX12</i> Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders
Simone Treccarichi, Francesco Calì, Mirella Vinci, et al.
Page
of 5
Search research articles
Search
Showing results (1-10 of 41) with videos related to
Sort By:
Page
of 5
International Journal of Molecular Sciences
|
January 8, 2025
Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis
Pinella Failla, Lucia Saccuzzo, Ornella Galesi, et al.
Prenatal Diagnosis
|
September 30, 2006
Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome
Daniela Turchetti, Elisabetta Razzaboni, Hila Zomer, et al.
Gene
|
July 31, 2025
Investigating the role of a novel hemizygous FAAH2 variant in neurological and metabolic disorders
Mirella Vinci, Donatella Greco, Simone Treccarichi, et al.
American Journal of Medical Genetics. Part A
|
November 12, 2013
3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients
Santina Città, Serafino Buono, Donatella Greco, et al.
Medicina (Kaunas, Lithuania)
|
July 30, 2025
Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants
Vittoria Greco, Donatella Greco, Simone Treccarichi, et al.
International Journal of Molecular Sciences
|
July 12, 2025
Strengthening the Role of <i>PSMC5</i> as a Potential Gene Associated with Neurodevelopmental Disorders
Mirella Vinci, Antonino Musumeci, Carla Papa, et al.
L'Encephale
|
February 18, 2026
Habilitative and rehabilitative educational interventions as protective factors against cognitive decline in adults with Down syndrome: A retrospective study
Marilena Recupero, Tommasa Zagaria, Flaviana Elia, et al.
Genes
|
August 29, 2024
Bioinformatic Evaluation of <i>KLF13</i> Genetic Variant: Implications for Neurodevelopmental and Psychiatric Symptoms
Mirella Vinci, Donatella Greco, Simone Treccarichi, et al.
International Journal of Molecular Sciences
|
May 14, 2025
Potential Association of the <i>CSMD1</i> Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive-Compulsive Personality Traits
Antonino Musumeci, Mirella Vinci, Simone Treccarichi, et al.
Current Issues in Molecular Biology
|
July 26, 2024
Implications of a <i>De Novo</i> Variant in the <i>SOX12</i> Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders
Simone Treccarichi, Francesco Calì, Mirella Vinci, et al.
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of 5