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Vera Ayres Meloni

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American Journal of Medical Genetics. Part A|September 9, 2016
Unusual X-chromosome inactivation pattern in patients with Xp11.23-p11.22 duplication: Report and reviewAdriana Di-Battista, Vera Ayres Meloni, Magnus Dias da Silva, et al.
Molecular Syndromology|February 28, 2022
Multicentric Carpotarsal Osteolysis Syndrome in a Mother and Daughter with a <i>MAFB</i> Missense Variant and Natural History of the DiseaseKelin Chen, Malú Zamariolli, Maria de Fátima de Faria Soares, et al.
Meta Gene|January 22, 2015
19q13.33→qter trisomy in a girl with intellectual impairment and seizuresGianna Carvalheira, Mariana Moysés Oliveira, Sylvia Takeno, et al.
Molecular Genetics and Metabolism Reports|July 5, 2022
Allan-Herndon-Dudley syndrome in a female patient and related mechanismsCaroline Olivati, Bianca Pereira Favilla, Erika Lopes Freitas, et al.
Molecular Cytogenetics|September 4, 2014
Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-upVera Ayres Meloni, Sylvia Satomi Takeno, Ana Luiza Pilla, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|February 24, 2023
Fold-back mechanism originating inv-dup-del rearrangements in chromosomes 13 and 15Bruna Burssed, Malú Zamariolli, Bianca Pereira Favilla, et al.
Journal of Applied Genetics|August 29, 2015
Position effect modifying gene expression in a patient with ring chromosome 14Roberta Santos Guilherme, Mariana Moysés-Oliveira, Anelisa Gollo Dantas, et al.
European Journal of Medical Genetics|January 30, 2022
CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variantsNatália Nunes, Malú Zamariolli, Anelisa Gollo Dantas, et al.
American Journal of Medical Genetics. Part A|April 29, 2021
Spread of X-chromosome inactivation into autosomal regions in patients with unbalanced X-autosome translocations and its phenotypic effectsBianca Pereira Favilla, Vera Ayres Meloni, Ana Beatriz Perez, et al.
Molecular Syndromology|June 14, 2019
Deletion of Chromosome 13 due to Different Rearrangements and Impact on PhenotypeFernanda T Bellucco, Hélio Rodrigues de Oliveira-Júnior, Roberta Santos Guilherme, et al.
Pageof 3

Showing results (1-10 of 24) with videos related to

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Pageof 3
American Journal of Medical Genetics. Part A|September 9, 2016
Unusual X-chromosome inactivation pattern in patients with Xp11.23-p11.22 duplication: Report and reviewAdriana Di-Battista, Vera Ayres Meloni, Magnus Dias da Silva, et al.
Molecular Syndromology|February 28, 2022
Multicentric Carpotarsal Osteolysis Syndrome in a Mother and Daughter with a <i>MAFB</i> Missense Variant and Natural History of the DiseaseKelin Chen, Malú Zamariolli, Maria de Fátima de Faria Soares, et al.
Meta Gene|January 22, 2015
19q13.33→qter trisomy in a girl with intellectual impairment and seizuresGianna Carvalheira, Mariana Moysés Oliveira, Sylvia Takeno, et al.
Molecular Genetics and Metabolism Reports|July 5, 2022
Allan-Herndon-Dudley syndrome in a female patient and related mechanismsCaroline Olivati, Bianca Pereira Favilla, Erika Lopes Freitas, et al.
Molecular Cytogenetics|September 4, 2014
Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-upVera Ayres Meloni, Sylvia Satomi Takeno, Ana Luiza Pilla, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|February 24, 2023
Fold-back mechanism originating inv-dup-del rearrangements in chromosomes 13 and 15Bruna Burssed, Malú Zamariolli, Bianca Pereira Favilla, et al.
Journal of Applied Genetics|August 29, 2015
Position effect modifying gene expression in a patient with ring chromosome 14Roberta Santos Guilherme, Mariana Moysés-Oliveira, Anelisa Gollo Dantas, et al.
European Journal of Medical Genetics|January 30, 2022
CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variantsNatália Nunes, Malú Zamariolli, Anelisa Gollo Dantas, et al.
American Journal of Medical Genetics. Part A|April 29, 2021
Spread of X-chromosome inactivation into autosomal regions in patients with unbalanced X-autosome translocations and its phenotypic effectsBianca Pereira Favilla, Vera Ayres Meloni, Ana Beatriz Perez, et al.
Molecular Syndromology|June 14, 2019
Deletion of Chromosome 13 due to Different Rearrangements and Impact on PhenotypeFernanda T Bellucco, Hélio Rodrigues de Oliveira-Júnior, Roberta Santos Guilherme, et al.
Pageof 3