Isabela Mayá Wayhs Silva
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View article: Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil
Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil Open
Irrespective of the center of origin, the data highlight delayed diagnosis and challenges in accessing genetic tests for the syndromic group. Given the widespread reliance on the public health system by most of the Brazilian population, di…
View article: Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil
Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil Open
View article: Comprehensive Insights into Health Services Accessibility and Quality of Life of Families with Individuals with 22q11.2 Deletion Syndrome in Brazil
Comprehensive Insights into Health Services Accessibility and Quality of Life of Families with Individuals with 22q11.2 Deletion Syndrome in Brazil Open
Background The 22q11.2 Deletion Syndrome (22q11.2 DS) presents unique healthcare challenges for affected individuals, families, and healthcare systems. Despite its rarity, 22q11.2 DS is the most common microdeletion syndrome in humans, emp…
View article: Exploring Health Literacy in 22q11.2 Deletion Syndrome: A Comprehensive Study on Access to Information, Teleorientation, and Social Media Engagement in Brazil
Exploring Health Literacy in 22q11.2 Deletion Syndrome: A Comprehensive Study on Access to Information, Teleorientation, and Social Media Engagement in Brazil Open
Background Health literacy enables individuals to access, comprehend, and utilize essential health information and services to make informed decisions about their well-being. In Brazil, disparities in access to education persist, raising c…
View article: Exploring Instagram and Facebook as tools for 22q11.2 deletion syndrome literacy (Preprint)
Exploring Instagram and Facebook as tools for 22q11.2 deletion syndrome literacy (Preprint) Open
BACKGROUND Health-related data available online is the most used source of information. In Brazil, more than 80% of its population uses the Internet for this purpose, particularly those diagnosed with a rare multisystem genetic disease, s…
View article: An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis
An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis Open
View article: An Overview of the Trajectory of Brazilian Individuals with 22q11.2 Deletion Syndrome Until Diagnosis.
An Overview of the Trajectory of Brazilian Individuals with 22q11.2 Deletion Syndrome Until Diagnosis. Open
Background: 22q11.2 Deletion Syndrome (22q11.2DS) is a rare disease that has as an important characteristic the clinical heterogeneity. The diversity of organs, regions, and systems of the body that can be affected requires periodic updati…
View article: InDels e CNVs pequenas em pacientes com Transtorno do Espectro Autista
InDels e CNVs pequenas em pacientes com Transtorno do Espectro Autista Open
\n O Transtorno do Espectro Autista (TEA) é uma doença do neurodesenvolvimento. É caracterizado por déficits significativos e persistentes na comunicação e na interação social e por padrões restritos e repetitivos de comportamento, interes…
View article: Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH)
Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH) Open