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Scientific Reports
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April 9, 2025
Cytogenomic characterization of karyotypes with additional autosomal material
Priscila Soares Rodrigues, Bruna Burssed, Fernanda Bellucco, et al.
Meta Gene
|
January 22, 2015
19q13.33→qter trisomy in a girl with intellectual impairment and seizures
Gianna Carvalheira, Mariana Moysés Oliveira, Sylvia Takeno, et al.
Molecular Syndromology
|
June 1, 2026
Replication-Based Mechanism Underlies a Complex dup(18p)/del(18q) Rearrangement Not Derived From Parental Inversion
Bruna Burssed, Malú Zamariolli, Bianca Pereira Favilla, et al.
Molecular Genetics and Metabolism Reports
|
July 5, 2022
Allan-Herndon-Dudley syndrome in a female patient and related mechanisms
Caroline 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-up
Vera Ayres Meloni, Sylvia Satomi Takeno, Ana Luiza Pilla, et al.
Human Genomics
|
June 13, 2024
Next-generation sequencing profiling of miRNAs in individuals with 22q11.2 deletion syndrome revealed altered expression of miR-185-5p
Anelisa Gollo Dantas, Beatriz Carvalho Nunes, Natália Nunes, 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 15
Bruna Burssed, Malú Zamariolli, Bianca Pereira Favilla, et al.
Human Genetics
|
September 9, 2008
Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation
Acácia Fernandes Lacerda de Carvalho, Fernanda Teixeira da Silva Bellucco, Leslie Domenici Kulikowski, et al.
Genes
|
February 27, 2026
Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant
Larissa Salustiano Evangelista Pimenta, Claudia Berlim de Mello, Guilherme V Polanczyk, et al.
Journal of Applied Genetics
|
August 29, 2015
Position effect modifying gene expression in a patient with ring chromosome 14
Roberta Santos Guilherme, Mariana Moysés-Oliveira, Anelisa Gollo Dantas, et al.
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Search research articles
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Showing results (11-20 of 86) with videos related to
Sort By:
Page
of 9
Scientific Reports
|
April 9, 2025
Cytogenomic characterization of karyotypes with additional autosomal material
Priscila Soares Rodrigues, Bruna Burssed, Fernanda Bellucco, et al.
Meta Gene
|
January 22, 2015
19q13.33→qter trisomy in a girl with intellectual impairment and seizures
Gianna Carvalheira, Mariana Moysés Oliveira, Sylvia Takeno, et al.
Molecular Syndromology
|
June 1, 2026
Replication-Based Mechanism Underlies a Complex dup(18p)/del(18q) Rearrangement Not Derived From Parental Inversion
Bruna Burssed, Malú Zamariolli, Bianca Pereira Favilla, et al.
Molecular Genetics and Metabolism Reports
|
July 5, 2022
Allan-Herndon-Dudley syndrome in a female patient and related mechanisms
Caroline 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-up
Vera Ayres Meloni, Sylvia Satomi Takeno, Ana Luiza Pilla, et al.
Human Genomics
|
June 13, 2024
Next-generation sequencing profiling of miRNAs in individuals with 22q11.2 deletion syndrome revealed altered expression of miR-185-5p
Anelisa Gollo Dantas, Beatriz Carvalho Nunes, Natália Nunes, 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 15
Bruna Burssed, Malú Zamariolli, Bianca Pereira Favilla, et al.
Human Genetics
|
September 9, 2008
Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation
Acácia Fernandes Lacerda de Carvalho, Fernanda Teixeira da Silva Bellucco, Leslie Domenici Kulikowski, et al.
Genes
|
February 27, 2026
Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant
Larissa Salustiano Evangelista Pimenta, Claudia Berlim de Mello, Guilherme V Polanczyk, et al.
Journal of Applied Genetics
|
August 29, 2015
Position effect modifying gene expression in a patient with ring chromosome 14
Roberta Santos Guilherme, Mariana Moysés-Oliveira, Anelisa Gollo Dantas, et al.
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of 9