MC
Carminho Amaro Rodrigues, Maria Teresa
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Immunodeficiency and lymphoma in Jacobsen syndrome | Journal of investigational allergology & clinical immunology |  | 2022 | 238 | 116 | ||
| Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients | Human Mutation | | 2021 | 289 | 141 | ||
| Benefits of exome sequencing in children with suspected isolated hearing loss | Genes | | 2021 | 227 | 162 | ||
| Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders | Genetics in medicine | | 2021 | 56 | 11 | ||
| LARS2-Perrault syndrome: a new case report and literature review | BMC Medical Genetics | | 2020 | 337 | 201 | ||
| Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome) | American Journal of Medical Genetics. A |  | 2020 | 257 | 1 |
