Clinical Genetics

Title

Clinical Genetics

ISSN

0009-9163

EISSN

1399-0004

Source

International

Scientific

Yes

Title

Clinical Genetics

ISSN

0009-9163

Electronic ISSN

1399-0004

Source

International

Scientific

Yes

Nomes Alternativos

Clinical Genetics desde 2010 scopus

CLINICAL GENETICS desde 2000 jcr

Clin. Genet. desde 2000 jcr_iso_abbreviated

CLIN GENET desde 2000 jcr_abbreviated

Publisher

Malden

Indexing

—

Journal Articles

Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine (2023)
Article in International Scientific Journal
Dias, A; Santos, M; Carvalho, E; Felicio, D; Silva, P; Alves, I; Pinho, T; Sousa, A; Alves-Ferreira, M; Carolina Lemos

Family dynamics in transthyretin-related familial amyloid polyneuropathy Val30Met: Does genetic risk affect family functioning? (2018)
Article in International Scientific Journal
Lopes, A; Rodrigues, C; Fonseca, I; Sousa, A; Branco, M; Coelho, T; Sequeiros, J; Freitas, P

The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry (2015)
Article in International Scientific Journal
Peixoto, A; Santos, C; Pinto, P; Pinheiro, M; Rocha, P; Pinto, C; Bizarro, S; Veiga, I; Principe, AS; Maia, S; Castro, F; Couto, R; Gouveia, A; Manuel R Teixeira

Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families (2015)
Article in International Scientific Journal
Sa, MJN; Storey, H; Flinter, F; Nagel, M; Sampaio, S; Castro, R; Araujo, JA; Gaspar, MA; Soares, C; Oliveira, A; Henriques, AC; da Costa, AG; Abreu, CP; Ponce, P; Alves, R; Pinho, L; Silva, SE; Carla Pinto Moura; Mendonca, L; Felix Carvalho...(mais 4 authors)