Variantes en el número de copias en trastornos del neurodesarrollo, síndrome malformativo y talla baja en Perú | 2020 | Acta Médica Peruana | Perú |
High prevalence of congenital generalized lipodystrophy in Piura, Peru | 2020 | Intractable Rare Dis Res | Japón |
Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the FOXP1 Gene: Review of the Literature | 2020 | J Pediatr Genet. | Alemania |
GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature. | 2019 | Mol Syndromol | Suiza |
Homozygous Deletion of the CFTR Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis | 2019 | J Pediatr Genet | Alemania |
Factores de riesgo en las enfermedades genéticas | 2018 | Acta Médica Peruana | Perú |
A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome | 2018 | Am J Med Genet A | EEUU |
Genetics and genomics in Peru: Clinical and research perspective | 2018 | Mol Genet Genomic Med | EEUU |
Williams-Beuren syndrome in diverse populations | 2018 | Am J Med Genet A | EEUU |
Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3 | 2018 | Eur J Med Genet | Países Bajos |
Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants | 2018 | Neurology | EEUU |
Chromosomal microarray analysis in peruvian children with delayed psychomotor development or intellectual disability] | 2017 | Rev Peru Med Exp Salud Publica. | Perú |
NOONAN SYNDROME IN DIVERSE POPULATIONS | 2017 | AMERICAN JOURNAL OF MEDICAL GENETICS | EEUU |
FRECUENCIA DE LAS MUTACIONES MÁS COMUNES DEL GEN CFTR EN PACIENTES PERUANOS CON FIBROSIS QUÍSTICA MEDIANTE LA TÉCNICA ARMS-PCR | 2017 | Revista Peruana de Medicina Experimental y Salud Pública | PERÚ |
A Peruvian Child with 18p-/18q Syndrome and Persistent Microscopic Hematuria | 2017 | J Pediatr Genet | Alemania |
SÍNDROME H: PRIMER CASO PEDIÁTRICO REPORTADO EN AMÉRICA LATINA | 2016 | REVISTA CHILENA DE PEDIATRÍA | CHILE |
MICRODUPLICATIONS ENCOMPASSING THE SONIC HEDGEHOG LIMB ENHANCER ZRS ARE ASSOCIATED WITH HAAS-TYPE POLYSYNDACTYLY AND LAURIN-SANDROW SYNDROME | 2014 | CLINICAL GENETICS | REINO UNIDO |
OCULAR PTERYGIUM--DIGITAL KELOID DYSPLASIA | 2014 | AMERICAN JOURNAL OF MEDICAL GENETICS | EEUU |
LEUCOENCEFALOPATÍA MEGALENCEFÁLICA CON QUISTES SUBCORTICALES (ENFERMEDAD DE VAN DER KNAAP) | 2013 | REVISTA CUBANA DE PEDIATRÍA | CUBA |
Síndrome Pai | 2010 | Revista Peruana de Pediatría | Perú |
VARÓN XX | 2005 | REVISTA DEL CURPO MEDICO DEL HNGAI | PERU |