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Journal of Personalized Medicine
|
October 27, 2022
High Throughput Genetic Characterisation of Caucasian Patients Affected by Multi-Drug Resistant Rheumatoid or Psoriatic Arthritis
Paola Tesolin, Francesca Eleonora Bertinetto, Arianna Sonaglia, et al.
Gene
|
September 23, 2024
Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance
Federica Baldan, Eliana Demori, Chiara Gnan, et al.
European Journal of Human Genetics : EJHG
|
September 5, 2018
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss
Anna Morgan, Dragana Vuckovic, Navaneethakrishnan Krishnamoorthy, et al.
Gene
|
March 20, 2013
Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort
Flavio Faletra, Emmanouil Athanasakis, Anna Morgan, et al.
International Journal of Molecular Sciences
|
May 7, 2025
Uncovering a Novel Pathogenic Mechanism of <i>BCS1L</i> in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant
Valeria Capaci, Luisa Zupin, Martina Magistrati, et al.
Biomedicines
|
August 28, 2025
Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel <i>PRDM13</i> and <i>CCNC</i> Duplication
Beatrice Spedicati, Domizia Pasquetti, Aurora Santin, et al.
Biomedicines
|
June 26, 2026
Reply to Small, K.W. Comment on "Spedicati et al. Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel <i>PRDM13</i> and <i>CCNC</i> Duplication. <i>Biomedicines</i> 2025, <i>13</i>, 1904"
Beatrice Spedicati, Domizia Pasquetti, Aurora Santin, et al.
Biomedicines
|
August 26, 2023
Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort
Aurora Santin, Beatrice Spedicati, Anna Morgan, et al.
Mutation Research
|
September 29, 2015
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability
Anna Morgan, Ilaria Gandin, Chiara Belcaro, et al.
Genes
|
August 27, 2021
Hearing Function: Identification of New Candidate Genes Further Explaining the Complexity of This Sensory Ability
Maria Pina Concas, Anna Morgan, Fabrizio Serra, et al.
Page
of 9
Search research articles
Search
Showing results (61-70 of 86) with videos related to
Sort By:
Page
of 9
Journal of Personalized Medicine
|
October 27, 2022
High Throughput Genetic Characterisation of Caucasian Patients Affected by Multi-Drug Resistant Rheumatoid or Psoriatic Arthritis
Paola Tesolin, Francesca Eleonora Bertinetto, Arianna Sonaglia, et al.
Gene
|
September 23, 2024
Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance
Federica Baldan, Eliana Demori, Chiara Gnan, et al.
European Journal of Human Genetics : EJHG
|
September 5, 2018
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss
Anna Morgan, Dragana Vuckovic, Navaneethakrishnan Krishnamoorthy, et al.
Gene
|
March 20, 2013
Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort
Flavio Faletra, Emmanouil Athanasakis, Anna Morgan, et al.
International Journal of Molecular Sciences
|
May 7, 2025
Uncovering a Novel Pathogenic Mechanism of <i>BCS1L</i> in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant
Valeria Capaci, Luisa Zupin, Martina Magistrati, et al.
Biomedicines
|
August 28, 2025
Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel <i>PRDM13</i> and <i>CCNC</i> Duplication
Beatrice Spedicati, Domizia Pasquetti, Aurora Santin, et al.
Biomedicines
|
June 26, 2026
Reply to Small, K.W. Comment on "Spedicati et al. Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel <i>PRDM13</i> and <i>CCNC</i> Duplication. <i>Biomedicines</i> 2025, <i>13</i>, 1904"
Beatrice Spedicati, Domizia Pasquetti, Aurora Santin, et al.
Biomedicines
|
August 26, 2023
Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort
Aurora Santin, Beatrice Spedicati, Anna Morgan, et al.
Mutation Research
|
September 29, 2015
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability
Anna Morgan, Ilaria Gandin, Chiara Belcaro, et al.
Genes
|
August 27, 2021
Hearing Function: Identification of New Candidate Genes Further Explaining the Complexity of This Sensory Ability
Maria Pina Concas, Anna Morgan, Fabrizio Serra, et al.
Page
of 9