The interstitial duplication 15q11. 2‐q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature N Urraca, J Cleary, V Brewer, EK Pivnick, K McVicar, RL Thibert, ... Autism Research 6 (4), 268-279, 2013 | 166 | 2013 |
DEB test for Fanconi anemia detection in patients with atypical phenotypes C Esmer, S Sanchez, S Ramos, B Molina, S Frias, A Carnevale American Journal of Medical Genetics Part A 124 (1), 35-39, 2004 | 75 | 2004 |
μ opioid receptor gene as a candidate for the study of obsessive compulsive disorder with and without tics N Urraca, B Camarena, L Gómez‐Caudillo, MC Esmer, H Nicolini American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 127 …, 2004 | 54 | 2004 |
Tamiz metabólico neonatal por espectrometría de masas en tándem: dos años de experiencia en Nuevo León, México MR Torres-Sepúlveda, LE Martínez-de Villarreal, C Esmer, ... Salud pública de México 50 (3), 200-206, 2008 | 43 | 2008 |
Autistic Behavior Checklist (ABC) and its applications AB Oro, ME Navarro-Calvillo, C Esmer Comprehensive guide to autism, 2787-2798, 2014 | 27 | 2014 |
Genética y la enfermedad de Parkinson: Revisión de actualidades G Elizondo-Cárdenas, MA Déctor-Carrillo, HR Martínez-Rodríguez, ... Med. Univer 13 (51), 96-100, 2011 | 17 | 2011 |
Patient follow‐up is a major problem at genetics clinics C Esmer, N Urraca, A Carnevale, V Del Castillo American Journal of Medical Genetics Part A 125 (2), 162-166, 2004 | 17 | 2004 |
Cloverleaf skull and multiple congenital anomalies in a girl exposed to cocaine in utero: case report and review of the literature MC Esmer, G Rodriguez-Soto, D Carrasco-Daza, ML Iracheta, ... Child's Nervous System 16, 176-179, 2000 | 17 | 2000 |
Manifestaciones iniciales de los trastornos del espectro autista. Experiencia en 393 casos atendidos en un centro neurológico infantil AB Oro, JV Briseno, CAC García, RFC Sepúlveda, AMH Villalobos, ... Neurología 27 (7), 414-420, 2012 | 15 | 2012 |
Expanded newborn screening using tandem mass spectrometry: two years’ experience in Nuevo Leon, Mexico M del Rosario Torres-Sepulveda, LE Martinez-de Villarreal, C Esmer, ... Salud Pública de México 50 (3), 200-206, 2008 | 14 | 2008 |
A novel interstitial deletion of 2q22. 3 q23. 3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations A Bravo‐Oro, IW Lurie, G Elizondo‐Cárdenas, C Peña‐Zepeda, ... American Journal of Medical Genetics Part A 167 (8), 1865-1871, 2015 | 12 | 2015 |
Autism spectrum disorders in Mexico A Bravo Oro, C Esmer, ME Navarro-Calvillo Comprehensive guide to autism, 2469-2482, 2014 | 11 | 2014 |
A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease C Esmer, R Becerra-Becerra, C Peña-Zepeda, A Bravo-Oro Acta Myologica 32 (2), 95, 2013 | 10 | 2013 |
Liver fibrocystic disease and polydactyly: proposal of a new syndrome C Esmer, A Alvarez‐Mendoza, E Lieberman, V Del Castillo, ... American journal of medical genetics 101 (1), 12-16, 2001 | 9 | 2001 |
Diagnóstico y tratamiento en la enfermedad de Pompe A Bravo-Oro, B de la Fuente-Cortez, A Molina-García, V Romero-Díaz, ... Revista Médica del Instituto Mexicano del Seguro Social 51 (5), 536-551, 2013 | 8 | 2013 |
Prevalencia del polimorfismo 677T del gen MTHFR en una muestra de la población de Nuevo León, México AA Aguirre-Rodríguez, LE Martínez-de Villarreal, MR Velazco-Campos, ... salud pública de méxico 50, 5-6, 2008 | 8 | 2008 |
Severe consequences of carbamazepine exposure in utero A Bravo, D Hernandez, L Martinez-Villarreal, G Elizondo, C Esmer Case Reports 2011, bcr0520114243, 2011 | 7 | 2011 |
Llethal keratitis, ichthyosis, and deafness syndrome due to the A88V connexin 26 Mutation C Esmer, JC Salas-Alanis, OR Fajardo-Ramirez, B Ramírez, R Hua, ... Revista de investigación clínica 68 (3), 143-146, 2016 | 6 | 2016 |
Secuelas neurológicas en tres pacientes con fenilcetonuria clásica diagnosticada tardíamente A Sánchez-Peña, L Martínez-de Villarreal, G Arteaga-Alcaraz, ... Boletín médico del Hospital Infantil de México 65 (3), 191-195, 2008 | 6 | 2008 |
Clasificación y abordaje de la ambigüedad de genitales MC Esmer Sánchez Instituto Nacional de Pediatría, 2019 | 5 | 2019 |