Hasil Pencarian - Natália D Linhares

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  1. 1
    Structural analysis of new compound heterozygous variants in PEPD gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing

    Structural analysis of new compound heterozygous variants in PEPD gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing oleh Natália D. Linhares, Piotr Wilk, Elżbieta Wątor, Meire A. Tostes, Manfred S. Weiss, Sergio D. J. Pena

    Diterbitkan 2021-04-01
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  2. 2
    Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders.

    Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders. oleh Raony G C C L Cardenas, Natália D Linhares, Raquel L Ferreira, Sérgio D J Pena

    Diterbitkan 2017-06-01
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  3. 3
    X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells

    X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells oleh Bianca Ho, Keelin Greenlaw, Abeer Al Tuwaijri, Sanny Moussette, Francisco Martínez, Elisa Giorgio, Alfredo Brusco, Giovanni Battista Ferrero, Natália D. Linhares, Eugênia R. Valadares, Marta Svartman, Vera M. Kalscheuer, Germán Rodríguez Criado, Catherine Laprise, Celia M. T. Greenwood, Anna K. Naumova

    Diterbitkan 2018-02-01
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  4. 4
    Familial STAG2 germline mutation defines a new human cohesinopathy

    Familial STAG2 germline mutation defines a new human cohesinopathy oleh Fernanda C. Soardi, Alice Machado-Silva, Natália D. Linhares, Ge Zheng, Qianhui Qu, Heloísa B. Pena, Thaís M. M. Martins, Helaine G. S. Vieira, Núbia B. Pereira, Raquel C. Melo-Minardi, Carolina C. Gomes, Ricardo S. Gomez, Dawidson A. Gomes, Douglas E. V. Pires, David B. Ascher, Hongtao Yu, Sérgio D. J. Pena

    Diterbitkan 2017-03-01
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