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Molecular Cytogenetics
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June 14, 2022
Mechanisms of structural chromosomal rearrangement formation
Bruna Burssed, Malú Zamariolli, Fernanda Teixeira Bellucco, 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 Disease
Kelin Chen, Malú Zamariolli, Maria de Fátima de Faria Soares, 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.
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.
European Journal of Medical Genetics
|
January 30, 2022
CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants
Natália Nunes, Malú Zamariolli, Anelisa Gollo Dantas, et al.
Molecular Genetics & Genomic Medicine
|
August 31, 2019
Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS)
Malú Zamariolli, Mileny Colovati, Mariana Moysés-Oliveira, et al.
Cytogenetic and Genome Research
|
June 15, 2020
Disruption of PCDH10 and TNRC18 Genes due to a Balanced Translocation
Malú Zamariolli, Adriana Di-Battista, Mariana Moysés-Oliveira, et al.
American Journal of Human Genetics
|
January 27, 2023
The impact of 22q11.2 copy-number variants on human traits in the general population
Malú Zamariolli, Chiara Auwerx, Marie C Sadler, et al.
American Journal of Human Genetics
|
July 7, 2023
Response to Bassett et al
Malú Zamariolli, Chiara Auwerx, Marie C Sadler, et al.
Cytogenetic and Genome Research
|
November 15, 2016
Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy
Silvia Bragagnolo, Mileny E S Colovati, Roberta S Guilherme, et al.
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Search research articles
Search
Showing results (1-10 of 18) with videos related to
Sort By:
Page
of 2
Molecular Cytogenetics
|
June 14, 2022
Mechanisms of structural chromosomal rearrangement formation
Bruna Burssed, Malú Zamariolli, Fernanda Teixeira Bellucco, 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 Disease
Kelin Chen, Malú Zamariolli, Maria de Fátima de Faria Soares, 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.
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.
European Journal of Medical Genetics
|
January 30, 2022
CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants
Natália Nunes, Malú Zamariolli, Anelisa Gollo Dantas, et al.
Molecular Genetics & Genomic Medicine
|
August 31, 2019
Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS)
Malú Zamariolli, Mileny Colovati, Mariana Moysés-Oliveira, et al.
Cytogenetic and Genome Research
|
June 15, 2020
Disruption of PCDH10 and TNRC18 Genes due to a Balanced Translocation
Malú Zamariolli, Adriana Di-Battista, Mariana Moysés-Oliveira, et al.
American Journal of Human Genetics
|
January 27, 2023
The impact of 22q11.2 copy-number variants on human traits in the general population
Malú Zamariolli, Chiara Auwerx, Marie C Sadler, et al.
American Journal of Human Genetics
|
July 7, 2023
Response to Bassett et al
Malú Zamariolli, Chiara Auwerx, Marie C Sadler, et al.
Cytogenetic and Genome Research
|
November 15, 2016
Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy
Silvia Bragagnolo, Mileny E S Colovati, Roberta S Guilherme, et al.
Page
of 2