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1 . Academic Journal
Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations.
저자
by
Acosta, Sebastian Ciro
;
Díaz-Ordóñez, Lorena
;
Gutierrez-Medina, Juan David
;
Silva-Cuero, Yisther Katherine
;
Arango-Vélez, Luis Guillermo
, et al.
소스
Application of Clinical Genetics; Feb2024, Vol. 16, p23-32, 10p
Open Access (T&F)
Scopus
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7 . Academic Journal
Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A.
저자
by
Diaz-Lombana, Natalia
;
Diaz-Ordoñez, Lorena
;
David Gutierrez-Medina, Juan
;
Pachajoa, Harry
.
소스
Frontiers in Genetics; 2023, p1-8, 8p
Web of Science
Scopus
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6 . Academic Journal
Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review.
저자
by
Diaz-Ordoñez, Lorena
;
Candelo, Estephania
;
Silva-Cuero, Katherine
;
Saldarriaga, Wilmar
;
Murgašová, Lenka
, et al.
소스
JMIR Research Protocols; Jun2022, Vol. 11 Issue 6, p1-5, 5p
Scopus
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7 . Academic Journal
A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report.
저자
by
Aristizábal, Erica
;
Diaz-Ordóñez, Lorena
;
Candelo, Estephania
;
Pachajoa, Harry
.
소스
Application of Clinical Genetics; Oct2021, Vol. 14, p409-416, 8p
Open Access (T&F)
Scopus
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6 . Academic Journal
Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia.
저자
by
Pachajoa, Harry
;
Acosta, Maria Amparo
;
Alméciga‐Díaz, Carlos J.
;
Ariza, Yoseth
;
Diaz‐Ordoñez, Lorena
, et al.
소스
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics; Sep2021, Vol. 187 Issue 3, p388-395, 8p
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7 . Academic Journal
Methylation Status of GLP2R, LEP and IRS2 in Small for Gestational Age Children with and without Catch-up Growth.
저자
by
Angulo, Mario
;
Ramirez-Montaño, Diana
;
Torres-Canchala, Laura
;
García, Ximena
;
Lemus, Rodrigo
, et al.
소스
Journal of Clinical Research in Pediatric Endocrinology
. Jun2021, Vol. 13 Issue 2, p136-145. 10p.
Web of Science
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7 . Academic Journal
Evaluation of CYP2C19 Gene Polymorphisms in Patients with Acid Peptic Disorders Treated with Esomeprazole.
저자
by
Díaz-Ordóñez, Lorena
;
Ramírez-Montaño, Diana
;
Candelo, Estephania
;
González-Restrepo, Carolina
;
Silva-Peña, Sebastián
, et al.
소스
Pharmacogenomics & Personalized Medicine; Apr2021, Vol. 14, p509-520, 12p
Open Access (T&F)
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7 . Academic Journal
A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation.
저자
by
Candelo, Estephania
;
Sanz, Ana Maria
;
Ramirez-Montaño, Diana
;
Diaz-Ordoñez, Lorena
;
Granados, Ana Maria
, et al.
소스
Frontiers in Genetics; 3/19/2021, Vol. 11, pN.PAG-N.PAG, 12p
Web of Science
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7 . Periodical
Molecular characterization of mucopolysaccharidosis type IVApatients in the Andean region of Colombia
저자
by
Pachajoa, Harry
;
Acosta, Maria Amparo
;
Alméciga‐Díaz, Carlos J.
;
Ariza, Yoseth
;
Diaz‐Ordoñez, Lorena
, et al.
소스
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics; September 2021, Vol. 187 Issue: 3 p388-395, 8p
Web of Science
Scopus
JCR 저널정보
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7 . Periodical
Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report
저자
by
Duque-Cordoba, Paola Andrea
;
Diaz-Ordoñez, Lorena
;
Gutierrez-Medina, Juan David
;
Pachajoa, Harry
.
소스
Medicine; November 2023, Vol. 102 Issue: 47 pe35600-e35600, 1p
Full Text (LWW)
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