Search Results - "Barreta, Ana"

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  1. 1
    Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication

    Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication by Da Silva, Jorge Diogo, Gonzaga, Diana, Barreta, Ana, Correia, Hildeberto, Fortuna, Ana Maria, Soares, Ana Rita, Tkachenko, Nataliya

    Published in Biomedicines (30-11-2022)
    “…The chromosomal region 17p13.3 contains extensive repetitive sequences and is a well-recognized region of genomic instability. The 17p13.3 microduplication…”
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  2. 2
    SU134A CASE REPORT OF A CAT-EYE SYNDROME PRESENTING WITH AN AUTISM SPECTRUM DISORDER

    SU134A CASE REPORT OF A CAT-EYE SYNDROME PRESENTING WITH AN AUTISM SPECTRUM DISORDER by Barbosa, Sofia, Lages, Marta, Borja-Santos, Nuno, Gonçalves, Patrícia, Barreta, Ana, Maia, Teresa

    Published in European neuropsychopharmacology (2019)
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  3. 3
    Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience

    Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience by Kucińska-Chahwan, Anna, Geremek, Maciej, Roszkowski, Tomasz, Bijok, Julia, Massalska, Diana, Ciebiera, Michał, Correia, Hildeberto, Pereira-Caetano, Iris, Barreta, Ana, Obersztyn, Ewa, Kutkowska-Kaźmierczak, Anna, Własienko, Paweł, Krajewska-Walasek, Małgorzata, Węgrzyn, Piotr, Dudarewicz, Lech, Krzeszowski, Waldemar, Rybak-Krzyszkowska, Magda, Nowakowska, Beata

    Published in Genes (21-04-2022)
    “…Despite advances in routine prenatal cytogenetic testing, most anomalous fetuses remain without a genetic diagnosis. Exome sequencing (ES) is a molecular…”
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  4. 4
    Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication

    Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication by Da Silva, Jorge Diogo, Gonzaga, Diana, Barreta, Ana, Correia, Hildeberto, tuna, Ana Maria, Soares, Ana Rita, Tkachenko, Nataliya

    Published in Biomedicines (30-11-2022)
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