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 · 516 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

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

Mendelian Disorder, Portuguese Family, Medicine +11

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

Inflammatory Lung Disease, Lung Inflammation, Recessive Cutis Laxa +22

A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

Ying Hu, I‐Ping Chen, Salomé de Almeida et al. · PLoS ONE · 2013 · 73 citations · Full text

Developmental Biology, Mendelian Disorder, Gap Junctions +13

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 · Full text

Transcriptional Regulation, Molecular Physiology, Medicine +11