Carmen Esmer

The Interstitial Duplication 15q11.2‐q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature

Nora Urraca, Julie Cleary, Victoria E. Brewer et al. · Autism Research · 2013 · 167 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

DEB test for Fanconi anemia detection in patients with atypical phenotypes

Carmen Esmer, Sílvia Sánchez, Sandra Ramos et al. · American Journal of Medical Genetics Part A · 2003 · 130 citations

Medicine, Hematology, Pediatrics +17

Liver fibrocystic disease and polydactyly: Proposal of a new syndrome

Carmen Esmer, Antonio Alvarez-Mendoza, Esther Lieberman et al. · American Journal of Medical Genetics · 2001 · 13 citations

Medicine, Pathology, Pediatrics +17

Patient follow‐up is a major problem at genetics clinics

Carmen Esmer, Nora Urraca, Alessandra Carnevale et al. · American Journal of Medical Genetics Part A · 2003 · 12 citations

Life Sciences, Genetics, Pediatrics +6

A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations

Antonio Bravo‐Oro, Iosif W. Lurie, Gabriela Elizondo‐Cárdenas et al. · American Journal of Medical Genetics Part A · 2015 · 10 citations

Life Sciences, Genetics, Molecular Genetics +17