List of works - Harry Pachajoa

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

scientific article published on 26 March 2020

Congenital arthrogryposis multiplex and gastroschisis in the same patient

scientific article published in October 2010

Down's Syndrome in pre-Hispanic pottery of the Colombia- Ecuador Pacific coast (2000 years ago) ⬇️

scientific article published on July 27, 2011

Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations

scientific article published in 2024

First case of Moebius-Poland syndrome in child prenatally exposed to misoprostol

article

Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review

scientific article published in 2022

Hutchinson-Gilford Progeria Syndrome: Clinical and Molecular Characterization

scientific article published on 04 September 2020

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

scientific article published on 25 August 2020

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy

scientific article published on 24 September 2020

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

scientific article published on 13 February 2020

Possible case of sirenomelia in the Tumaco-Tolita pottery pre-Columbian culture, 2000 years before the epidemic focus of sirenomelia in Cali-Colombia

scientific article published on 03 August 2011

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

scientific article published on 11 August 2020

Sirenomelia and cyclopia in the same patient after a cluster of cyclopia and sirenomelia in Cali (South America)

scientific article published on 24 May 2012

The Human Phenotype Ontology in 2024: phenotypes around the world

scientific article published in 2023

[Isotretinoin embryopathy with microtia-anotia and congenital heart disease: case report]

scientific article published on 01 May 2012

[Molar tooth sign: a characteristic image in Joubert syndrome]

scientific article published on 01 March 2010

List of works by Harry Pachajoa