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REBOLLEDO JARAMILLO, BORIS EDUARDO
Preferred name
REBOLLEDO JARAMILLO, BORIS EDUARDO
Main Affiliation
Email
brebolledo@udd.cl
ORCID
Scopus Author ID
55926164500
Now showing
1 - 4 of 4
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PublicationDecoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile( 2024)
;Catalina Lagos ;Joan Orellana ;Gabriela Moreno ;Luz M. Martín ;Gonzalo Encina ;Daniela Böhme ;Víctor Faundes ;M. Jesús Zavala ;María Trinidad Hasbún ;Sara Fischer ;Florencia Brito ;Diego Araya ;Manuel Lira ;Javiera de la Cruz ;Camila Astudillo ;Guillermo Lay-Son ;Carolina Cares ;Mariana Aracena ;Esteban San Martin ;Zeynep Coban-Akdemir ;Jennifer E. Posey ;James R. Lupski6 -
PublicationContribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome( 2021)
;Maria Gabriela Obregon ;Victoria Huckstadt ;Abel Gomez6 -
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PublicationPrevalence of filaggrin loss‐of‐function variants in Chilean population with and without atopic dermatitis( 2021)
;Geovanna V. Cárdenas ;Carolina Iturriaga ;Caroll D. Hernández ;Macarena Tejos‐Bravo ;Guillermo Pérez‐Mateluna ;Carolina Cabalin ;Marcela Urzúa ;Luis F. Venegas‐Salas ;Juan P. Fraga ;Maria C. Poli ;Paola Casanello ;José A. Castro‐RodríguezArturo BorzutzkyScopus© Citations 9 21