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2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report

BMC pediatrics, 2022-10, Vol.22 (1), p.1-569, Article 569

2022

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Haploinsufficiency of SF3B2 causes craniofacial microsomia

Nature communications, 2021-08, Vol.12 (1), p.4680-4680, Article 4680

2021

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Williams-Beuren syndrome: Report of two cases with molecular diagnosis

Colombia médica (Cali, Colombia), 2024-07, Vol.42 (4), p.523-528

2024

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2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report

BMC pediatrics, 2024-10, Vol.24 (1), p.641-12, Article 641

2024

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Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman

Frontiers in genetics, 2023-01, Vol.13, p.1092301

2023

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Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome

Frontiers in genetics, 2023-07, Vol.14, p.1183362

2023

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Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A

Frontiers in genetics, 2023-06, Vol.14, p.1158350

2023

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

European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.280-288

2021

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Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population

Scientific reports, 2023-04, Vol.13 (1), p.6869-6869, Article 6869

2023

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FLNC Associada a Cardiomiopatia Restritiva e Hipertrabeculação, uma Associação Rara

Arquivos brasileiros de cardiologia, 2024, Vol.121 (5)

2024

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Aspectos genéticos e imagenológicos de la enfermedad quística renal en pediatría: serie de casos

Biomédica, 2024-05, Vol.44 (Sp. 1), p.27-41

2024

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Novel ATP7A gene mutation in a patient with Menkes disease

Application of clinical genetics, 2018-01, Vol.11, p.151-155

2018

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Hematopoietic Stem Cell Transplantation in Children with Inborn Errors of Immunity: a Multi-center Experience in Colombia

Journal of clinical immunology, 2020-11, Vol.40 (8), p.1116-1123

2020

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P360: Genotype-phenotype characterization of channelopathies in pediatric patients at a high-complexity hospital in Cali, Colombia, from 2015-2023

Genetics in Medicine Open, 2024, Vol.2, p.101254, Article 101254

2024

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P863: Colombian Pacific genetics initiative: A project for the diagnosis and research of genetics rare disease

Genetics in Medicine Open, 2024, Vol.2, p.101777, Article 101777

2024

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Systemic Bevacizumab for Recurrent Respiratory Papillomatosis: A Scoping Review from 2009 to 2022

Children (Basel), 2022-12, Vol.10 (1), p.54

2022

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Pandemias ficticias. Contagio: ficción o una nueva realidad

Revista de medicina y cine, 2021-02, Vol.17 (1), p.77-84

2021

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A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation

Frontiers in genetics, 2021-03, Vol.12, p.530028-530028

2021

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Schimke immuno-osseous dysplasia. A case report in Colombia

Molecular genetics and metabolism reports, 2023-12, Vol.37, p.100995, Article 100995

2023

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Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report

Iranian journal of medical sciences, 2019-07, Vol.44 (4), p.347-353

2019

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Case report: A novel COL3A1 variant in a Colombian patient with isolated cerebrovascular involvement in vascular Ehlers-Danlos syndrome

Frontiers in medicine, 2024-03, Vol.11, p.1304168

2024

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Considerations for Familial Chylomicronemia Diagnosis in the Era of Next-Generation Sequencing: A Latin American Perspective

Journal of inborn errors of metabolism and screening, 2024, Vol.12

2024

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Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization

Application of clinical genetics, 2020-09, Vol.13, p.159-164

2020

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

JMIR research protocols, 2022-06, Vol.11 (6), p.e32986-e32986

2022

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Microcephaly in Colombia before the Zika outbreak: A systematic literature review

Biomédica, 2018-08, Vol.38 (suppl 2), p.127-134

2018

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2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report

Haploinsufficiency of SF3B2 causes craniofacial microsomia

Williams-Beuren syndrome: Report of two cases with molecular diagnosis

2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report

Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman

Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome

Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A

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

Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population

FLNC Associada a Cardiomiopatia Restritiva e Hipertrabeculação, uma Associação Rara

Aspectos genéticos e imagenológicos de la enfermedad quística renal en pediatría: serie de casos

Novel ATP7A gene mutation in a patient with Menkes disease

Hematopoietic Stem Cell Transplantation in Children with Inborn Errors of Immunity: a Multi-center Experience in Colombia

P360: Genotype-phenotype characterization of channelopathies in pediatric patients at a high-complexity hospital in Cali, Colombia, from 2015-2023

P863: Colombian Pacific genetics initiative: A project for the diagnosis and research of genetics rare disease

Systemic Bevacizumab for Recurrent Respiratory Papillomatosis: A Scoping Review from 2009 to 2022

Pandemias ficticias. Contagio: ficción o una nueva realidad

A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation

Schimke immuno-osseous dysplasia. A case report in Colombia

Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report

Case report: A novel COL3A1 variant in a Colombian patient with isolated cerebrovascular involvement in vascular Ehlers-Danlos syndrome

Considerations for Familial Chylomicronemia Diagnosis in the Era of Next-Generation Sequencing: A Latin American Perspective

Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization

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

Microcephaly in Colombia before the Zika outbreak: A systematic literature review

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