Carlos Eduardo Steiner

Supplemental Material for: Diagnostic odyssey in a patient with Incontinentia Pigmenti elucidated by Optical Genome Mapping: a case report

figshare admin karger, Carolina Gama Nascimento-Vidotia, Luciana Vilela Gomide, Adriana Schikiera Martinelli Salathiel et autres

ch (code pays fourni par la source)

Supplemental Material for: Diagnostic odyssey in a patient with Incontinentia Pigmenti elucidated by Optical Genome Mapping: a case report

figshare admin karger, Carolina Gama Nascimento-Vidotia, Luciana Vilela Gomide, Adriana Schikiera Martinelli Salathiel et autres

ch (code pays fourni par la source)

Oncogenetics training in Brazilian medical genetics residency programs: current landscape and challenges

Amaro Freire de Queiroz Júnior, Angelina Xavier Acosta, Carlos Eduardo Steiner, C. A. Souza et autres

br, Mozambique, pt (code pays fourni par la source)

A comprehensive approach to users from a Brazilian clinical genetics service: an observational study

Déborah Domeneghetti de Francisco, Isabela Mayá Wayhs Silva, Carlos Eduardo Steiner, Vera Lúcia Gil‐da‐Silva‐Lopes

br (code pays fourni par la source)

Genome sequencing for the diagnosis of rare disorders: The Brazilian Rare Genomes Project

Antônio Victor Campos Coelho, Rafael Sales de Albuquerque, Catarina Gomes, José Bandeira do Nascimento Junior et autres

National insights into the diagnostic odyssey of Fabry disease patients in Brazil: Data from the RARAS network

Sandra O. Kyosen, GIOVANNA RAJEVSKI ALVES, Nathalia I. Alves, Marco A. Curiati et autres

Molecular characterization of Alkaptonuria in Brazilian patients

Carolina Moreno, Ruy Pires de Oliveira Sobrinho, Josep Jorente, Simone Appenzeller et autres

br (code pays fourni par la source)

From diagnosis to daily life: A comparative pilot study on healthcare access and challenges for neurofibromatosis type 1 in public systems of Brazil and Portugal

Déborah Domeneghetti de Francisco, Isabela Mayá Wayhs Silva, Jorge Manuel Andrade Saraiva, Carlos Eduardo Steiner et autres

br, pt (code pays fourni par la source)

Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses

Luise Longo Angeloni, Josep Jorente, Ruy Pires de Oliveira Sobrinho, Vera Lúcia Gil‐da‐Silva‐Lopes et autres

br (code pays fourni par la source)

Bathrocephaly and Serpentine Fibula as Underrated Features of Osteogenesis Imperfecta Type I: A Case Report

Felício de Freitas Netto, Ruy Pires de Oliveira Sobrinho, Tatiana Ferreira de Almeida, Carlos Eduardo Steiner

br (code pays fourni par la source)

Investigação das causas genéticas do atraso do desenvolvimento neuropsicomotor/deficiência intelectual, associado ou não a anomalias congênitas, em indivíduos com suspeita de distúrbios de herança recessiva

Gabriela Roldão Correia‐Costa, Vera Lúcia Gil‐da‐Silva‐Lopes, Carlos Eduardo Steiner, Têmis Maria Félix et autres

br (code pays fourni par la source)

A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project

Carlos Eduardo Steiner, Maria Beatriz Puzzi, Antonia Paula Marques‐de‐Faria, Ruy Pires de Oliveira Sobrinho et autres

br (code pays fourni par la source)