Concepedia

Author

Salomé de Almeida

Unidade Local de Saúde de São JoséORCID

Also Known As

Salome De Almeida, Salome de Almeida, Salomé Almeida, Salomé de Almeida

10

Publications

873

Citations

6

H-Index

33

Concepts

All Affiliations

Unidade Local de Saúde de São JoséHospital de Dona Estefânia
SD

About

Salomé de Almeida is an author at Unidade Local de Saúde de São José specializing in genetics, medicine, and molecular genetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

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867

2

Molecular Genetics

5

5

754

3

Natural Sciences

1

1

58

4

Molecular Biology

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58

5

Molecular Medicine

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73

Salomé de Almeida

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6

Publications

867

Citations

6

H-Index

YearCitations

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

Anil K. Agarwal, Elif Arioǧlu, Salomé de Almeida,

Nature Genetics

2002

516

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,

Human Genetics

1995

113

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

Bert Callewaert, Chi-Ting Su, Tim Van Damme,

Human Mutation

2012

83

A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

Ying Hu, I‐Ping Chen, Salomé de Almeida,

PLoS ONE

2013

73

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

Frank J. Kaiser, Paola Brega, Michael L. Raff,

European Journal of Human Genetics

2003

58

Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects

Fernando Cristo, José M. Inácio, Salomé de Almeida,

BMC Medical Genetics

2017

24

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