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발행년	- (예 : 2010-2015)

Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report.

Academic Journal

Pachajoa, Harry; Ruiz-Botero, Felipe; Meza-Escobar, Luis Enrique; Villota-Delgado, Vania Alexandra; Ballesteros, Adriana; Padilla, Ivan; Duarte, Diana

Journal of Medical Case Reports. 9/26/2016, Vol. 10, p1-6. 6p.

EBSCOHost PDF Full Text (ProQuest Central) Full Text (Gale Academic Onefile) Open Access (BioMed Central) Web of Science Scopus Find it@PNU

Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report.

Academic Journal

Ruiz-Botero, Felipe; Pachajoa, Harry

Journal of Medical Case Reports. 7/27/2016, Vol. 10, p1-7. 7p.

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Síndrome de Morquio: nueva mutación del gen GALNS en dos hermanos del sur-occidente colombiano. Análisis clínico, molecular y bioinformático.

Academic Journal

Pachajoa, Harry; Ruiz-Botero, Felipe; Hernández-Amariz, María Fernanda; Eichler, Sabrina; Castillo-Giraldo, Andrés Orlando

Revista Mexicana de Pediatria. May/Jun2016, Vol. 83 Issue 3, p85-92. 8p.

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A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.

Academic Journal

Pachajoa, Harry; Ruiz-Botero, Felipe; Isaza, Carolina

Journal of Medical Case Reports. 2014, Vol. 8 Issue 1, p1-12. 12p.

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Artrogriposis multiple congenita en gemelo monocorionico biamniotico. Reporte de caso y revision de la literatura

Academic Journal

Ruiz-Botero, Felipe; Pachajoa, Harry; Saldarriaga, Wilmar; Isaza, Carolina

Revista Colombiana de Obstetricia y Ginecología. January, 2009, Vol. 60 Issue 1, p79, 4 p.

Full Text (Gale Academic Onefile) Scopus Find it@PNU

FKBP14 kyphoscoliotic Ehlers Danlos syndrome in adolescent patient: the first Colombian report

Academic Journal

Ruiz-Botero, Felipe; Ramirez-Montano, Diana; Pachajoa, Harry

ARCHIVOS ARGENTINOS DE PEDIATRIA; JUN 2019, 117 3, pE274-pE278, 5p.

Web of Science JCR 저널정보 Scopus Find it@PNU

Síndrome de pterigium múltiple letal: reporte de caso. (Spanish)

Academic Journal

Ruiz-Botero, Felipe; Ramírez-Cheyne, Julián; Saldarriaga-Gil, Wilmar; De Lourido, Carolina Isaza

Revista Chilena de Obstetricia y Ginecología; May2013, Vol. 78 Issue 3, p236-239, 4p

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Langer-Giedion syndrome with 8q23.1-q24.12 deletion diagnosed by comparative genomic hybridization

Academic Journal

Ruiz-Botero, Felipe; Pachajoa, Harry

ARCHIVOS ARGENTINOS DE PEDIATRIA; AUG 2016, 114 4, pE228-pE232, 5p.

Web of Science JCR 저널정보 Scopus Find it@PNU

SÍNDROME DE EHLERS-DANLOS CIFOESCOLIÓTICO-FKBP14, PRIMER REPORTE COLOMBIANO.

Academic Journal

Ruiz-Botero, Felipe; Ramirez-Montaño, Diana; Pachajoa, Harry

Duazary. Revista de la Facultad de Ciencias de la Salud. 2019 Supplement, Vol. 16, p71-71. 1p.

Full Text (ProQuest Central) Web of Science JCR 저널정보 Find it@PNU

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