José Antonio Nastasi-Catanese

The fifth female patient with Myhre syndrome: further delineation

Luis E. Becerra-Solano, Manuel Díaz-Rodríguez, José Antonio Nastasi-Catanese et al. · Clinical Dysmorphology · 2008 · 18 citations

Medicine, Endocrinology, Pediatrics +9

Molecular characterization of mucopolysaccharidosis type <scp>IVA</scp> patients in the Andean region of Colombia

Harry Pachajoa, Marı́a Amparo Acosta, Carlos Javier Alméciga-Díaz et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2021 · 13 citations

Life Sciences, Genetics, Molecular Genetics +17

First case reported of Turner syndrome and trisomy 14 chromosomal mosaicism in a patient

Luis E. Becerra-Solano, L. Arnaud‐López, Manuel Díaz-Rodríguez et al. · Clinical Dysmorphology · 2008 · 11 citations

Life Sciences, Genetics, Molecular Genetics +17

&lt;p&gt;A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis&lt;/p&gt;

Gabriel David Pinilla-Monsalve, Juliana Lores, Harry Pachajoa et al. · The Application of Clinical Genetics · 2020 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17