Salomé de Almeida

AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34

Anil K. Agarwal, Elif Arioǧlu, Salomé de Almeida et al. · Nature Genetics · 2002 · 518 citations

Life Sciences, Genetics, Molecular Genetics +6

Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family

Salomé de Almeida, Edgar Almeida, Dorien J.M. Peters et al. · Human Genetics · 1995 · 113 citations

Medicine, Genetics, Molecular Genetics +14

Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

Bert Callewaert, Chi-Ting Su, Tim Van Damme et al. · Human Mutation · 2012 · 83 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

Ying Hu, I‐Ping Chen, Salomé de Almeida et al. · PLoS ONE · 2013 · 75 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal

Frank J. Kaiser, Paola Brega, Michael L. Raff et al. · European Journal of Human Genetics · 2003 · 58 citations

Life Sciences, Genetics, Molecular Genetics +7