A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype

অনুযায়ী Toral-López, Jaime, González-Huerta, Luz M., Messina Baas, Olga, Cuevas-Covarrubias, Sergio A.
প্রকাশিত Mol Syndromol (2016)

Cerebral hemihypoplasia and nevus flammeus in a child with oromandibular limb hypogenesis syndrome type III

অনুযায়ী Toral-López, Jaime, Córdoba-Cabeza, Tania, Villeda, Maricela, Cortes-Castillo, Gabriel, Zenteno, Juan Carlos
প্রকাশিত J Pediatr Genet (2013)

Submicroscopic 11p13 deletion including the elongator acetyltransferase complex subunit 4 gene in a girl with language failure, intellectual disability and congenital malformations...

অনুযায়ী Toral-Lopez, Jaime, Huerta, Luz María González, Messina-Baas, Olga, Cuevas-Covarrubias, Sergio A
প্রকাশিত World J Clin Cases (2020)

Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract

অনুযায়ী Messina-Baas, Olga, Gonzalez-Garay, Manuel L., González-Huerta, Luz M., Toral-López, Jaime, Cuevas-Covarrubias, Sergio A.
প্রকাশিত Mol Syndromol (2016)

Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis

অনুযায়ী Linares Chávez, Etzalli P., Toral López, Jaime, Valdés Miranda, Juan M., González Huerta, Luz M., Perez Cabrera, Adrian, del Refugio Rivera Vega, María, Messina Baas, Olga M., Cuevas-Covarrubias, Sergio A.
প্রকাশিত Mol Syndromol (2016)