Cunha, Paulina
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1

Extreme phenotypic heterogeneity in non-expansion spinocere..:

Cunha, Paulina ; Petit, Emilien ; Coutelier, Marie...
The American Journal of Human Genetics.  110 (2023)  7 - p. 1098-1109 , 2023
 
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6

Ceroid lipofuscinosis type 5: novel pathogenic variants and..:

Paiva, Anderson Rodrigues Brandão de ; Pessoa, André Luiz Santos ; Nóbrega, Paulo Ribeiro...
https://discovery.ucl.ac.uk/id/eprint/10166685/2/Lynch_ceroid%20lipofuscinosis%20type%205%2027.06.2022.pdf.  , 2023
 
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8

Arginase 1 deficiency presenting as complicated hereditary ..:

Freua, Fernando ; Almeida, Mariana Espíndola de Castro ; Nóbrega, Paulo Ribeiro...
https://discovery.ucl.ac.uk/id/eprint/10157124/1/Lynch_Arginase%201%20deficiency%20presenting%20as%20complicated%20hereditary%20spastic%20paraplegia_AAM.pdf.  , 2022
 
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