Elizabeth Lemos Silveira

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

Laura van Berge, Eline M. Hamilton, Tarja Linnankivi et al. · Brain · 2014 · 105 citations · Full text

Acheiropodia Is Caused by a Genomic Deletion in C7orf2, the Human Orthologue of the Lmbr1 Gene

Peter Ianakiev, Marijke J. van Baren, Mark J. Daly et al. · The American Journal of Human Genetics · 2001 · 100 citations · Full text

Biology, Genomic Deletion, Mendelian Disorder +9

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Sarah M. Nikkel, Andrew Dauber, Sonja de Munnik et al. · Orphanet Journal of Rare Diseases · 2013 · 83 citations · Full text

Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia

Aki Ushiki, Yichi Zhang, Chenling Xiong et al. · Nature Communications · 2021 · 68 citations · Full text

The Actual Incidence of Congenital Adrenal Hyperplasia in Brazil May Not be as High as Inferred - An Estimate Based on a Public Neonatal Screening Program in the State of Goiás

Elizabeth Lemos Silveira, Ε.Ρ Santos, Tânia A.S.S. Bachega et al. · Journal of Pediatric Endocrinology and Metabolism · 2008 · 37 citations

Gynecology, Cyp21 D, Adrenal Gland +16