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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 - 10 of 11
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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. Lupski7 -
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PublicationCells from discarded dressings differentiate chronic from acute wounds in patients with Epidermolysis Bullosa( 2020)
;Christina Guttmann-Gruber ;Birgit Tockner ;Anja Diem ;Alfred Klausegger ;Glenda Cofré-Araneda ;Olga Figuera ;Yessia Hidalgo ;Pilar Morandé ;Raymond J. Cho ;Heather I. Rishel ;M. Peter Marinkovich ;Joyce M. C. Teng ;Timothy G. Webster ;Marco Prisco ;Luis H. Eraso ;Josefina Piñon HofbauerAndrew P. SouthScopus© Citations 17 22 -
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 -
PublicationEpidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy( 2019)
;Agnes Schwieger-Briel ;Daniele Castiglia ;Antonio Barbato ;Matthias Greutmann ;Juna Leppert ;Sabine Duchatelet ;Alain Hovnanian ;Sofia Burattini ;M. Joao Yubero ;Rodrigo Ibañez-Arenas ;Christoph Gräni ;Hagen Ott ;Martin Theiler ;Lisa Weibel ;Amy S. Paller ;Giovanna Zambruno ;Judith FischerCristina HasScopus© Citations 26 8 -
PublicationIMMUNE CELL PROFILING OF WOUNDS FROM EPIDERMOLYSIS BULLOSA PATIENTS( 2020)
;Guttmann-Gruber, Christina ;Tockner, Birgit ;Anja Diem ;Klausegger, Alfred ;Cofre-Araneda, Glenda ;Figuera, Olga ;Hidalgo, Yessia ;Morande, Pilar ;Cho, Raymond J. ;Rishel, Heather I ;Marinkovich, M. Peter ;Teng, Joyce ;Webster, Timothy G. ;Prisco, Marco ;Eraso, Luis H. ;Hofbauer, Josefina PinonSouth, Andrew P.5 -
Publication
Scopus© Citations 11 10 -
PublicationJupyter and Galaxy: Easing entry barriers into complex data analyses for biomedical researchers( 2017)
;Björn A. Grüning ;Eric Rasche ;Carl Eberhard ;Torsten Houwaart ;John Chilton ;Nate Coraor ;Rolf Backofen ;James Taylor ;Anton NekrutenkoFrancis OuelletteScopus© Citations 40 8 -
PublicationLongitudinal study of wound healing status and bacterial colonisation of Staphylococcus aureus and Corynebacterium diphtheriae in epidermolysis bullosa patients( 2022)
;Pilar Morandé ;Carmen Varela ;Karen Oróstica ;Francisco Acevedo ;Esteban ArancibiaScopus© Citations 6 19 -
PublicationStreamlined computational pipeline for genetic background characterization of genetically engineered mice based on next generation sequencing data( 2019)
;C. Farkas ;F. Fuentes-Villalobos ;F. Benavides ;A. F. CastroR. PincheiraScopus© Citations 5 10