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Genes
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September 28, 2024
Uncovering a Genetic Diagnosis in a Pediatric Patient by Whole Exome Sequencing: A Modeling Investigation in Wiedemann-Steiner Syndrome
Ighli di Bari, Caterina Ceccarini, Maria Curcetti, et al.
American Journal of Medical Genetics. Part A
|
January 14, 2021
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype
Maria Giovanna Tedesco, Fortunato Lonardo, Caterina Ceccarini, et al.
Molecular Genetics & Genomic Medicine
|
December 19, 2019
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate
Ilaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, et al.
Prenatal Diagnosis
|
November 20, 2022
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)
Francesca Romana Grati, Ilaria Bestetti, Daria De Siero, et al.
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Search research articles
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Showing results (11-20 of 14) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 14 results.
Genes
|
September 28, 2024
Uncovering a Genetic Diagnosis in a Pediatric Patient by Whole Exome Sequencing: A Modeling Investigation in Wiedemann-Steiner Syndrome
Ighli di Bari, Caterina Ceccarini, Maria Curcetti, et al.
American Journal of Medical Genetics. Part A
|
January 14, 2021
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype
Maria Giovanna Tedesco, Fortunato Lonardo, Caterina Ceccarini, et al.
Molecular Genetics & Genomic Medicine
|
December 19, 2019
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate
Ilaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, et al.
Prenatal Diagnosis
|
November 20, 2022
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)
Francesca Romana Grati, Ilaria Bestetti, Daria De Siero, et al.
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of 2