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American Journal of Medical Genetics. Part A
|
August 3, 2016
Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings
Cynthia Silveira, Gabriela F Leal, Denise P Cavalcanti
Msystems
|
July 2, 2026
Bacteriophage replication strategies are associated with organic matter energy content on coral reefs
Natascha S Varona, Lisa Schellenberg, Will Barnes, et al.
Msystems
|
October 16, 2025
High microbial diversity, functional redundancy, and prophage enrichment support the success of the yellow pencil coral, <i>Madracis mirabilis,</i> in Curaçao's coral reefs
Bailey A Wallace, Natascha S Varona, Alexandra K Stiffler, et al.
American Journal of Medical Genetics. Part A
|
October 17, 2023
A mesomelic skeletal dysplasia, Kantaputra-like, not related to HOXD cluster region, and with phenotypic gender differences
Maria Dora Jazmin Lacarrubba-Flores, Karina da Costa Silveira, Cynthia Silveira, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
September 16, 2021
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias
Karina C Silveira, Thatiane Y Kanazawa, Cynthia Silveira, et al.
Molecular Biology of the Cell
|
June 17, 2026
Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms
Amila Šemić, Kazette Yuen Yu Chan, Pricila Bernardi, et al.
Biorxiv : the Preprint Server for Biology
|
April 10, 2026
Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms
Amila Šemić, Kazette Yuen Yu Chan, Pricila Bernardi, et al.
Journal of Neurology
|
August 5, 2025
Spinal cord structural changes in SPG4: insights from a large cohort using advanced neuroimaging
Carelis González-Salazar, Luciana R Pimentel-Silva, Thiago J R Rezende, et al.
Cerebellum (London, England)
|
November 22, 2025
Survival in Brazilian Patients with Friedreich´s Ataxia
Daiana Suelen Machado, Cynthia Silveira, Adriana Mendes Vinagre, et al.
Molecular Syndromology
|
January 20, 2023
SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation
Cynthia Silveira, Karina da Costa Silveira, Maria D Lacarrubba-Flores, et al.
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Search research articles
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Showing results (1-10 of 19) with videos related to
Sort By:
Page
of 2
American Journal of Medical Genetics. Part A
|
August 3, 2016
Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings
Cynthia Silveira, Gabriela F Leal, Denise P Cavalcanti
Msystems
|
July 2, 2026
Bacteriophage replication strategies are associated with organic matter energy content on coral reefs
Natascha S Varona, Lisa Schellenberg, Will Barnes, et al.
Msystems
|
October 16, 2025
High microbial diversity, functional redundancy, and prophage enrichment support the success of the yellow pencil coral, <i>Madracis mirabilis,</i> in Curaçao's coral reefs
Bailey A Wallace, Natascha S Varona, Alexandra K Stiffler, et al.
American Journal of Medical Genetics. Part A
|
October 17, 2023
A mesomelic skeletal dysplasia, Kantaputra-like, not related to HOXD cluster region, and with phenotypic gender differences
Maria Dora Jazmin Lacarrubba-Flores, Karina da Costa Silveira, Cynthia Silveira, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
September 16, 2021
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias
Karina C Silveira, Thatiane Y Kanazawa, Cynthia Silveira, et al.
Molecular Biology of the Cell
|
June 17, 2026
Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms
Amila Šemić, Kazette Yuen Yu Chan, Pricila Bernardi, et al.
Biorxiv : the Preprint Server for Biology
|
April 10, 2026
Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms
Amila Šemić, Kazette Yuen Yu Chan, Pricila Bernardi, et al.
Journal of Neurology
|
August 5, 2025
Spinal cord structural changes in SPG4: insights from a large cohort using advanced neuroimaging
Carelis González-Salazar, Luciana R Pimentel-Silva, Thiago J R Rezende, et al.
Cerebellum (London, England)
|
November 22, 2025
Survival in Brazilian Patients with Friedreich´s Ataxia
Daiana Suelen Machado, Cynthia Silveira, Adriana Mendes Vinagre, et al.
Molecular Syndromology
|
January 20, 2023
SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation
Cynthia Silveira, Karina da Costa Silveira, Maria D Lacarrubba-Flores, et al.
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of 2