Carlos Jorge Pereira Bessa


AuthID: R-000-JPP

Confirmed Publications: 4



1
TITLE: Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2  Full Text
AUTHORS: Jiadi Wen; Fatima Lopes; Gabriela Soares; Sandra A Farrell; Cara Nelson; Ying Qiao; Sally Martell; Chansonette Badukke; Carlos Bessa ; Bauke Ylstra; Suzanne Lewis; Nina Isoherranen; Patricia Maciel ; Evica Rajcan Separovic;
PUBLISHED: 2013, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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2
TITLE: Using C-elegans to Decipher the Cellular and Molecular Mechanisms Underlying Neurodevelopmental Disorders  Full Text
AUTHORS: Carlos Bessa ; Patricia Maciel ; Ana Joao Rodrigues;
PUBLISHED: 2013, SOURCE: MOLECULAR NEUROBIOLOGY, VOLUME: 48, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 32
IN MY: ORCID
3
TITLE: The Neuronal Ceroid Lipofuscinosis Protein CLN5: New Insights into Cellular Maturation, Transport, and Consequences of Mutations  Full Text
AUTHORS: Mia Lisa Schmiedt; Carlos Bessa ; Claudia Heine; Maria Gil Ribeiro; Anu Jalanko; Aija Kyttala;
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
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4
TITLE: Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis  Full Text
AUTHORS: Teixeira, CA; Espinola, J; Huo, L; Kohlschutter, J; Sawin, DAP; Minassian, B; Bessa, CJP ; Guimaraes, A; Stephan, DA; Miranda, MCS ; MacDonald, ME; Ribeiro, MG; Boustany, RMN;
PUBLISHED: 2003, SOURCE: HUMAN MUTATION, VOLUME: 21, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID

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