Search Results - "Moreno Giraldo, Lina Johanna" :: K.UTB vyhledávací portál

Role of gene interactions in the pathophysiology of skeletal dysplasias: A case report in Colombia

by Madrid, Nathalie Yepes, Giraldo, Lina Johanna Moreno
Published in Journal of Genetic Engineering and Biotechnology (01.03.2024)

Get full text

Journal Article

Loading…

Determination of the Population Allelic Frequency of the Variants of the MPS Complex in Southwestern Colombia

by Giraldo, Lina Johanna Moreno, Satizabal, José María, Gómez, Adalberto Sánchez
Published in Journal of inborn errors of metabolism and screening (2021)

Get full text

Journal Article

Loading…

Molecular Characterization of the GBA Gene in Patients from Southwest of Colombia with Gaucher Disease

by Terranova, Daniela Arturo, Giraldo, Lina Johanna Moreno, Idrobo, Henry, Satizabal, José María
Published in Journal of inborn errors of metabolism and screening (2021)

Get full text

Journal Article

Loading…

Otorhinolaryngological Findings in Patients from Southwestern Colombia with Clinical, Enzymatic and Molecular Diagnosis of Mucopolysaccharidosis II, IV-A and VI

by Giraldo, Lina Johanna Moreno, Arturo-Terranova, Daniela, Soto, José María Satizábal
Published in Journal of inborn errors of metabolism and screening (2020)

Get full text

Journal Article

Loading…

Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation

by Moreno Giraldo, Lina Johanna, Escudero Rodríguez, Ángela María, Sánchez Gómez, Adalberto, Satizabal Soto, José María
Published in Molecular genetics and metabolism reports (01.09.2018)

Get full text

Journal Article

Loading…

Genomic factors involved in neurodevelopment disorders

by Forero Ladino, Angélica María, Moreno Giraldo, Lina Johanna
Published in Interdisciplinary Journal of Epidemiology and Public Health (30.06.2021)

Get full text

Journal Article

Loading…

Celiac disease in children with Down syndrome

by Velasco-Benítez, Carlos Alberto, Moreno-Giraldo, Lina Johanna
Published in Revista chilena de pediatria (01.12.2019)

Get more information

Journal Article

Loading…

Correlation between bone manifestations and variants of the GBA gene in Gaucher disease: A systematic review

by Terranova, Daniela Arturo, Giraldo, Lina Johanna Moreno, Satizabal-Soto, Jose Maria
Published in Molecular genetics and metabolism (01.02.2023)

Get full text

Journal Article

Loading…

Reclasificación de variante del gen TRPV4 en un paciente con displasia esquelética: reporte de caso

by Posada-Bernal, David, Moreno-Giraldo, Lina Johanna
Published in Médicas UIS (26.04.2024)

Get full text

Journal Article

Loading…

Impacto de la caracterización genómica en pacientes con atrofia muscular espinal no 5q

by Moreno Giraldo, Lina Johanna, Ponce Ramírez, María Alejandra
Published in Revista med (29.12.2023)

Get full text

Journal Article

Loading…

Variante patogénica en el dominio RhoGAP del gen ARHGAP6 asociada a neurofibromatosis tipo 1

by Moreno Giraldo, Lina Johanna, Celorio Murillo, Winnie Joanne
Published in Piel (01.10.2021)

Get full text

Journal Article

Loading…

Variantes del Complejo MPS en población Colombiana

by Moreno Giraldo, Lina Johanna, Satizábal, José María, Sánchez Gómez, Adalberto
Published in Revista de la Asociación Colombiana de Ciencias Biológicas (10.12.2020)

Get full text

Journal Article

Loading…

Role of gene interactions in the pathophysiology of skeletal dysplasias: A case report in Colombia

by Madrid, Nathalie Yepes, Giraldo, Lina Johanna Moreno
Published in Journal, genetic engineering & biotechnology (01.03.2024)

Get more information

Journal Article

Loading…

Análisis clínico, molecular y bioinformático de paciente con enfermedad de Cori-Forbes en el Suroccidente Colombiano

by Moreno-Giraldo, Lina Johanna, Estela-Zape, José Luis, Arturo-Terranova, Daniela, Satizábal-Soto, José María
Published in Revista de la Asociación Colombiana de Ciencias Biológicas (01.06.2022)

Get full text

Journal Article

Loading…

Variantes del gen GBA en el Suroccidente Colombiano

by Arturo-Terranova, Daniela, Moreno Giraldo, Lina Johanna, Idrobo, Henry, Satizabal, José María
Published in Revista de la Asociación Colombiana de Ciencias Biológicas (20.11.2020)

Get full text

Journal Article

Loading…

Integración de la Bioinformática en la caracterización Clínica y Genómica de Retinitis Pigmentosa, Síndrome de Noonan y Síndrome de Retraso Mental Martin-Probs, en un mismo individuo. Reporte de un Caso

by Moreno-Giraldo, Lina Johanna, Arturo-Terranova, Daniela, Satizábal-Soto, José María
Published in Revista de la Asociación Colombiana de Ciencias Biológicas (23.06.2020)

Get full text

Journal Article

Loading…

Biología molecular de cardiopatías congénitas

by Moreno-Giraldo, Lina Johanna, Herrera-Mafla, Cristian David, Satizábal-Soto, José María
Published in Revista de la Asociación Colombiana de Ciencias Biológicas (11.10.2019)

Get full text

Journal Article

Loading…

Abordaje de las genodermatosis desde la medicina de precisión: reporte de casos

by Zúñiga-Espitia, Iván Darío, Moreno Giraldo, Lina Johanna, Satizábal Soto, José María
Published in Revista de la Asociación Colombiana de Dermatología y Cirugía Dermatológica (30.07.2024)

Get full text

Journal Article

Loading…

Teratogénesis y exposición a retinoides

by Ingara Cristina James, Monica Lizet Perez Sanchez, José Fernando Gómez Urrego, Lina Johanna Moreno Giraldo
Published in Interdisciplinary Journal of Epidemiology and Public Health (01.06.2023)

Get full text

Journal Article

Loading…

Enfermedad celíaca en niños con síndrome de Down

by Velasco-Benítez, Carlos Alberto, Moreno-Giraldo, Lina Johanna
Published in Revista Chilena de pediatría (01.12.2019)

Get full text

Journal Article

Refine Results

Format

Subject Area

Topic

Language

Year of Publication

Database