author-photo

Margarida Reis-Lima

Instituto Nacional de Saúde Dr. Ricardo Jorge

25

Papers

142

Citations

Citation Trend

Filter By

Papers (19) Sort By

Journal Conference Others

CAMINHOS INVESTIGATIVOS: a metodologia em foco Coleção Caminhos investigativos – Volume I

2019
Show All
- Source
- Cite
- Save
Citations (0)
Living with inborn errors of cholesterol biosynthesis: lessons from adult patients

2014 Clinical Genetics
Show All
- Source
- Cite
- Save
Citations (3)
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population

2011 Clinical Genetics
Show All
- Source
- Cite
- Save
Citations (9)
A NONSENSE PORCN MUTATION IN SEVERE FOCAL DERMAL HYPOPLASIA WITH NATAL TEETH

2010 Fetal and Pediatric Pathology
Show All
- Source
- Cite
- Save
Citations (9)
Osteopathia striata with cranial sclerosis

2010 Acta Médica Portuguesa
Show All
- Source
- Cite
- Save
Citations (5)
Development of NIPBL Locus‐Specific Database Using LOVD: From Novel Mutations to Further Genotype–Phenotype Correlations in Cornelia de Lange Syndrome

2010 Human Mutation
Show All
- Source
- Cite
- Save
Citations (19)
Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype-Phenotype Correlations in Cornelia de Lange Syndrome

2010 Prenatal Diagnosis
Show All
- Source
- Cite
- Save
Citations (0)
Osteopathia striata with cranial sclerosis due to mutations in the WTX gene

2009 Bone
Show All
- Source
- Cite
- Save
Citations (0)
Genes, crianças e pediatras: Neurofibromatose tipo 1

2009 Nascer e Crescer
Show All
- Source
- Cite
- Save
Citations (0)
Muenke syndrome with osteochondroma.

2009 American Journal of Medical Genetics Part A
Show All
- Source
- Cite
- Save
Citations (7)