Výsledky vyhledávání - "William López-Quintero"

Akademický článek

Skin manifestations in pediatric patients with primary immunodeficiency diseases (PIDs) in a tertiary care hospital in Colombia

Autor: William López-Quintero, Daniela Cleves, Jose David Gomez-Vasco, Paola Pérez, Jaime Patiño, Diego Medina-Valencia, Harry Pachajoa, Laura Torres-Canchala, Andres Vidal, Manuela Olaya

Publikováno v: World Allergy Organization Journal, Vol 14, Iss 3, Pp 100527- (2021)

Background: The current literature describes the characteristics of some skin manifestations in the context of primary immunodeficiency diseases (PIDs), also known as inborn errors of the immune system. However, there are hardly any data on the epide

Externí odkaz: https://doaj.org/article/882d23a3e58d4decbcba9d332a960fce

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Caracterización de las manifestaciones cutáneas por infección de SARS-COV-2 en pacientes de América Latina

Autor: Oscar Eduardo Guzmán-Mendoza, María Camila Garzón-Portilla, Diego Fernando Echeverry, William López Quintero

Publikováno v: Piel. 37:S1-S6

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::550c7da9b43e6246bd1b7448c60ac6d6
https://doi.org/10.1016/j.piel.2022.02.017

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

Autor: Claudia Montoya, Sara Vanegas, William López-Quintero, Harry Pachajoa, Diana Ramirez-Montaño

Publikováno v: The Application of Clinical Genetics. 11:15-21

Introduction Mutations in ABCC9 are associated with Cantu syndrome (CS), a very rare genetic disorder characterized by congenital hypertrichosis, acromegaloid facial appearance (AFA), cardiomegaly, and skeletal anomalies. Case report We report an 8-y

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::aa37621fc5d0a4c1f600d35428041c8d
https://doi.org/10.2147/tacg.s155022

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Skin manifestations in pediatric patients with primary immunodeficiency diseases (PIDs) in a tertiary care hospital in Colombia

Autor: Harry Pachajoa, Manuela Olaya, Laura Torres-Canchala, Paola Perez, Jose David Gomez-Vasco, William López-Quintero, Diego Medina-Valencia, Jaime Patiño, Daniela Cleves, Andres Vidal

Publikováno v: The World Allergy Organization Journal
World Allergy Organization Journal, Vol 14, Iss 3, Pp 100527-(2021)

Background The current literature describes the characteristics of some skin manifestations in the context of primary immunodeficiency diseases (PIDs), also known as inborn errors of the immune system. However, there are hardly any data on the epidem

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7126e88b89082b28d8278627fbdff153
https://doi.org/10.1016/j.waojou.2021.100527

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

Autor: Harry Pachajoa, William López-Quintero, Sara Vanegas, Claudia Montoya, Diana Ramírez-Montaño

Publikováno v: The Application of Clinical Genetics. 11:75-76

Pachajoa H, López-Quintero W, Vanegas S, Montoya CL, Ramírez-Montaño D. The Application of Clinical Genetics. 2018;11:15–21.In the main title (page 15) and in the first column, third row of Table 1 (page 17), the gene name ABBC9 should be ABCC9.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29b95827732b4a102a477483170c589f
https://doi.org/10.2147/tacg.s170250

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