Laparoscopic Hysterectomy and Bilateral Salpingectomy in a Patient with Microduplication Syndrome (20p13p12.1) and a Bicornuate Uterus: An Unreported Association

by Pachajoa H, Perafan L, Ramos I, Escobar ÁJ
Published 2020-08-01

A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report

by Aristizábal E, Diaz-Ordóñez L, Candelo E, Pachajoa H
Published 2021-10-01

A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome

by Ríos-Serna LJ, Díaz-Ordoñez L, Candelo E, Pachajoa H
Published 2018-11-01

Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype [Corrigendum]

by Pachajoa H, López-Quintero W, Vanegas S, Montoya CL, Ramírez-Montaño D
Published 2018-05-01

Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype

by Pachajoa H, López-Quintero W, Vanegas S, Montoya CL, Ramírez-Montaño D
Published 2018-03-01

Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis

by Vanegas S, Sua LF, López-Tenorio J, Ramírez-Montaño D, Pachajoa H
Published 2018-05-01

Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report

by Torres-Canchala L, Castaño D, Silva N, Gómez AM, Victoria A, Pachajoa H
Published 2020-08-01

The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report

by Candelo E, Estrada-Mesa MA, Jaramillo A, Martinez-Cajas CH, Osorio JC, Pachajoa H
Published 2021-06-01

Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization

by Pachajoa H, Claros-Hulbert A, García-Quintero X, Perafan L, Ramirez A, Zea-Vera AF
Published 2020-09-01

Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA

by Tapiero-Rodriguez SM, Acosta Guio JC, Porras-Hurtado GL, García N, Solano M, Pachajoa H, Velasco HM
Published 2018-04-01

PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country

by Forero-Delgadillo JM, Cleves D, Ochoa V, Londoño-Correa H, Restrepo JM, Nastasi-Catanese JA, Pachajoa H
Published 2020-02-01

First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities

by Candelo E, Caicedo G, Rosso F, Ballesteros A, Orrego J, Escobar L, Lapunzina P, Nevado J, Pachajoa H
Published 2019-07-01

A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis

by Pinilla-Monsalve GD, Lores J, Pachajoa H, López-Ponce de León JD, López A, Rodríguez-Rojas LX, Nastasi-Catanese JA
Published 2020-03-01

Evaluation of CYP2C19 Gene Polymorphisms in Patients with Acid Peptic Disorders Treated with Esomeprazole

by Díaz-Ordóñez L, Ramírez-Montaño D, Candelo E, González-Restrepo C, Silva-Peña S, Rojas CA, Sepulveda Copete M, Echavarria HR, Pachajoa H
Published 2021-04-01