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International Journal of Molecular Sciences
|
June 2, 2021
Regulatory Noncoding and Predicted Pathogenic Coding Variants of <i>CCR5</i> Predispose to Severe COVID-19
Sueva Cantalupo, Vito Alessandro Lasorsa, Roberta Russo, et al.
Clinical Epigenetics
|
October 4, 2025
Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with multi-locus imprinting disturbances
Francesco Cecere, Laura Pignata, Emilia D'Angelo, et al.
Biomedicines
|
May 25, 2024
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis
Tiziana Fioretti, Fabrizio Martora, Ilaria De Maggio, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
May 9, 2025
Multi-OMICs analysis on tridimensional fibroblast spheroids to model vascular Ehlers-Danlos syndrome pathogenesis
Lucia Micale, Ester Di Muro, Rossella De Cegli, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
November 27, 2024
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder
Alessandro De Falco, Angela De Dominicis, Marina Trivisano, et al.
Clinical Epigenetics
|
June 1, 2022
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
Laura Pignata, Francesco Cecere, Ankit Verma, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 5, 2022
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals
Giuseppe D'Alterio, Vito Alessandro Lasorsa, Ferdinando Bonfiglio, et al.
Clinical Genetics
|
February 1, 2025
Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First-Tier Approach
Roberta Petillo, Ilaria De Maggio, Carmelo Piscopo, et al.
Human Genetics
|
April 20, 2023
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
Maria Pia Leone, Silvia Morlino, Grazia Nardella, et al.
Viruses
|
June 24, 2022
Carriers of <i>ADAMTS13</i> Rare Variants Are at High Risk of Life-Threatening COVID-19
Kristina Zguro, Margherita Baldassarri, Francesca Fava, et al.
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Search research articles
Search
Showing results (31-40 of 45) with videos related to
Sort By:
Page
of 5
International Journal of Molecular Sciences
|
June 2, 2021
Regulatory Noncoding and Predicted Pathogenic Coding Variants of <i>CCR5</i> Predispose to Severe COVID-19
Sueva Cantalupo, Vito Alessandro Lasorsa, Roberta Russo, et al.
Clinical Epigenetics
|
October 4, 2025
Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with multi-locus imprinting disturbances
Francesco Cecere, Laura Pignata, Emilia D'Angelo, et al.
Biomedicines
|
May 25, 2024
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis
Tiziana Fioretti, Fabrizio Martora, Ilaria De Maggio, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
May 9, 2025
Multi-OMICs analysis on tridimensional fibroblast spheroids to model vascular Ehlers-Danlos syndrome pathogenesis
Lucia Micale, Ester Di Muro, Rossella De Cegli, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
November 27, 2024
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder
Alessandro De Falco, Angela De Dominicis, Marina Trivisano, et al.
Clinical Epigenetics
|
June 1, 2022
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
Laura Pignata, Francesco Cecere, Ankit Verma, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 5, 2022
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals
Giuseppe D'Alterio, Vito Alessandro Lasorsa, Ferdinando Bonfiglio, et al.
Clinical Genetics
|
February 1, 2025
Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First-Tier Approach
Roberta Petillo, Ilaria De Maggio, Carmelo Piscopo, et al.
Human Genetics
|
April 20, 2023
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
Maria Pia Leone, Silvia Morlino, Grazia Nardella, et al.
Viruses
|
June 24, 2022
Carriers of <i>ADAMTS13</i> Rare Variants Are at High Risk of Life-Threatening COVID-19
Kristina Zguro, Margherita Baldassarri, Francesca Fava, et al.
Page
of 5