المؤلفون: Anyelo Durán, Boris Rebolledo-Jaramillo, Valeria Olguin, Marcelo Rojas-Herrera, Macarena Las Heras, Juan F. Calderón, Silvana Zanlungo, David A. Priestman, Frances M. Platt, Andrés D. Klein

المصدر: Biochemistry and Biophysics Reports, Vol 28, Iss , Pp 101105- (2021)

مصطلحات موضوعية: Systems genetics, Modifier genes, β-glucocerebrosidase, Inbred strains, Gaucher disease, Parkinson's disease, Biology (General), QH301-705.5, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405580821002004; https://doaj.org/toc/2405-5808

URL الوصول: https://doaj.org/article/dff4503f41464b0aa93acc285066214e

المؤلفون: Elisa Balboa, Tamara Marín, Juan Esteban Oyarzún, Pablo S. Contreras, Robert Hardt, Thea van den Bosch, Alejandra R. Alvarez, Boris Rebolledo-Jaramillo, Andres D. Klein, Dominic Winter, Silvana Zanlungo

المصدر: Cells, Vol 10, Iss 8, p 2159 (2021)

مصطلحات موضوعية: liver damage, Niemann Pick type C disease, lysosomal storage disorder, proteomic analysis, mass spectrometry, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/10/8/2159; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/bad4e229bef34b36b08551674950517c

المؤلفون: Boris Rebolledo-Jaramillo, Annemarie Ziegler

المصدر: Frontiers in Neuroscience, Vol 12 (2018)

مصطلحات موضوعية: Teneurin/ODZ, somatic aberrations, cancer signaling pathways, data mining, tumorigenesis, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fnins.2018.00937/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/80ca4c8e99704ed68eb9890876072f19

المؤلفون: Björn A Grüning, Eric Rasche, Boris Rebolledo-Jaramillo, Carl Eberhard, Torsten Houwaart, John Chilton, Nate Coraor, Rolf Backofen, James Taylor, Anton Nekrutenko

المصدر: PLoS Computational Biology, Vol 13, Iss 5, p e1005425 (2017)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5444614?pdf=render; https://doaj.org/toc/1553-734X; https://doaj.org/toc/1553-7358

URL الوصول: https://doaj.org/article/b9ffb2544292468abd071231c8278d0e

المؤلفون: Benjamin Dickins, Boris Rebolledo-Jaramillo, Marcia Shu-Wei Su, Ian M. Paul, Daniel Blankenberg, Nicholas Stoler, Kateryna D. Makova, Anton Nekrutenko

المصدر: BioTechniques, Vol 56, Iss 3, Pp 134-141 (2014)

مصطلحات موضوعية: re-sequencing, contamination, next-generation sequencing, Galaxy, reproducibility, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0736-6205; https://doaj.org/toc/1940-9818

URL الوصول: https://doaj.org/article/6ff859dafd284ae0abcf665578016195

المؤلفون: Rodrigo Hasbún, Carolina Iturra, Soraya Bravo, Boris Rebolledo-Jaramillo, Luis Valledor

المصدر: International Journal of Genomics, Vol 2016 (2016)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2314-436X; https://doaj.org/toc/2314-4378

URL الوصول: https://doaj.org/article/9d199efbf5f3442fadafe9aee7fe6256

المؤلفون: Rena Zheng, Boris Rebolledo-Jaramillo, Yiwei Zong, Liqing Wang, Pierre Russo, Wayne Hancock, Ben Z Stanger, Ross C Hardison, Gerd A Blobel

المصدر: PLoS ONE, Vol 8, Iss 12, p e83723 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3867416?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/cc1b818cb1d9408b9cafd0956bb7a359

المؤلفون: Anyelo Durán, David A. Priestman, Macarena Las Las Heras, Boris Rebolledo-Jaramillo, Valeria Olguín, Juan F. Calderón, Silvana Zanlungo, Jaime Gutiérrez, Frances M. Platt, Andrés D. Klein

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 5; Pages: 4915

مصطلحات موضوعية: metabolism, lysosomal enzymes, glycosphingolipids, systems genetics, modifier genes

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Biology; https://dx.doi.org/10.3390/ijms24054915

الاتاحة: https://doi.org/10.3390/ijms24054915

المؤلفون: Boris Rebolledo-Jaramillo, Maria Gabriela Obregon, Victoria Huckstadt, Abel Gomez, Gabriela M. Repetto

المصدر: Genes; Volume 12; Issue 1; Pages: 92

مصطلحات موضوعية: 22q11.2 deletion syndrome, mtDNA heteroplasmy, congenital defects

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12010092

الاتاحة: https://doi.org/10.3390/genes12010092

المؤلفون: Ignacia Fuentes, María Joao Yubero, Pilar Morandé, Carmen Varela, Karen Oróstica, Francisco Acevedo, Boris Rebolledo‐Jaramillo, Esteban Arancibia, Lorena Porte, Francis Palisson

المصدر: International Wound Journal. 20:774-783

مصطلحات موضوعية: Surgery, Dermatology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5e756c29bc1fa0adb0cd392d6451f9da
https://doi.org/10.1111/iwj.13922

المؤلفون: Anyelo Durán, David A. Priestman, Macarena Las Las Heras, Boris Rebolledo-Jaramillo, Valeria Olguín, Juan F. Calderón, Silvana Zanlungo, Jaime Gutiérrez, Frances M. Platt, Andrés D. Klein

المصدر: International Journal of Molecular Sciences
Volume 24
Issue 5
Pages: 4915

مصطلحات موضوعية: Inorganic Chemistry, systems genetics, glycosphingolipids, modifier genes, lysosomal enzymes, Organic Chemistry, General Medicine, Physical and Theoretical Chemistry, metabolism, Molecular Biology, Spectroscopy, Catalysis, Computer Science Applications

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb0a4cc099311c510a882cb5f007dfcd
https://doi.org/10.21203/rs.3.rs-2362074/v1

المؤلفون: Boris Rebolledo-Jaramillo

المصدر: Genes, 12(1), 92, (2023-11-22)

Relation: https://doi.org/10.3390/genes12010092; https://zenodo.org/communities/icim-udd; https://doi.org/10.5281/zenodo.10191571; https://doi.org/10.5281/zenodo.10191572; oai:zenodo.org:10191572

الاتاحة: https://doi.org/10.5281/zenodo.10191572

المؤلفون: Carlos Juri, Pedro Chaná-Cuevas, Vasko Kramer, Rosemarie Fritsch, Claudia Ornstein, Analía Cuiza, Carlos Hernández, Katiuska Villanueva, Teresa Cordova, Jorge Mauro, Adrian Ocampo, Boris Rebolledo-Jaramillo, Gonzalo Encina, Andrea Calleja, Javiera Dinator, Juan Pablo Alcayaga, Nicolas A. Crossley, Gabriela M. Repetto

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a63b49dab131673eb7b33c7c2d6cb893
https://doi.org/10.1101/2022.05.18.22275282

المؤلفون: Soraya Gutierrez, Amjad Javed, Janet Stein, Gary Stein, Sandra Nicovani, Valentina Fernandez, Ricardo Alarcon, Marcela Stuardo, Milka Martinez, Marcela Hinojosa, Boris Rebolledo-Jaramillo

المصدر: https://www.intechopen.com/books/737.

مصطلحات موضوعية: Myeloid Leukemia - Basic Mechanisms of Leukemogenesis

Relation: https://mts.intechopen.com/articles/show/title/epigenetic-changes-associated-with-chromosomal-translocation-in-leukemia

الاتاحة: https://mts.intechopen.com/articles/show/title/epigenetic-changes-associated-with-chromosomal-translocation-in-leukemia
https://doi.org/10.5772/28486

المؤلفون: Luis H. Eraso, Alfred Klausegger, Raymond J. Cho, Heather I Rishel, Andrew P. South, Josefina Piñón Hofbauer, Boris Rebolledo-Jaramillo, Francis Palisson, Anja Diem, María Joao Yubero, Yessia Hidalgo, B. Tockner, Ignacia Fuentes, M. Peter Marinkovich, P. Morandé, Olga Figuera, Marco Prisco, Glenda Cofré-Araneda, T.G. Webster, Christina Guttmann-Gruber, Joyce M.C. Teng

المصدر: Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Cell biology, Skin wound, Molecular biology, T-Lymphocytes, Immunology, lcsh:Medicine, Diseases, Disease, Cell Separation, Article, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Immune system, Medicine, Humans, In patient, lcsh:Science, Wound Healing, Multidisciplinary, integumentary system, business.industry, lcsh:R, medicine.disease, Dermatology, Bandages, Impaired wound healing, 030104 developmental biology, Acute Disease, Chronic Disease, lcsh:Q, Epidermolysis bullosa, business, Epidermolysis Bullosa, Healthcare system, Granulocytes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2fb2f64b7c860ef74107c14235d6118
http://europepmc.org/articles/PMC7492213

المؤلفون: Boris Rebolledo-Jaramillo, María Gabriela Obregon, Abel Gomez, Gabriela M. Repetto, Huckstadt

مصطلحات موضوعية: Genetics, Mitochondrial DNA, Heart disease, Embryogenesis, Significant difference, medicine, Deletion syndrome, Biology, medicine.disease, Allele frequency, Phenotype, Heteroplasmy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1e6777c5fc64b4c9cf539ce6aec455fe
https://doi.org/10.1101/2020.05.31.20118646

المؤلفون: Asimina Andritsou, Neeraj Arora, Evaggelia Barba, Adam Binder, Nitin Chakravarti, Konstantina Chalikiopoulou, Catalina Lopez Correa, Adam Ertel, Paolo Fortina, Vassileios Fragoulakis, Konstantinos Ghirtis, Despina Giannouri, Heidi Carmen Howard, Manousos E. Kambouris, Kostas Kampourakis, Kariofyllis Karamperis, Zoe Kordou, Maria Koromina, Gaurav Kumar, Yiannis Manoussopoulos, Effrosyni Mendrinou, Anjali Mishra, Christina Mitropoulou, Emilia Niemiec, Vural Özdemir, Konstantina Papaioannou, George P. Patrinos, Konstantina Politopoulou, Pierluigi Porcu, Nicole Probst-Hensch, Boris Rebolledo-Jaramillo, Gabriela M. Repetto, Stavroula Siamoglou, Maria Skokou, Evangelia-Eirini Tsermpini, Aristea Velegraki, Athanassios Vozikis, Sam Wadge, Janet L. Williams

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::eb9c8ed4e4d9be8314f266da4e561ce0
https://doi.org/10.1016/b978-0-12-813695-9.00026-1

المؤلفون: Gabriela M. Repetto, Boris Rebolledo-Jaramillo

مصطلحات موضوعية: Data sharing, medicine.medical_specialty, Clinical diagnosis, Public health, Environmental health, Equity (finance), medicine, Genomics, Early death, Business, World population

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c206d09b5fcb433671ebaa758307c13e
https://doi.org/10.1016/b978-0-12-813695-9.00003-0

المؤلفون: Ariel F. Castro, Francisco Fuentes-Villalobos, Carlos Farkas, F. Benavides, Roxana Pincheira, Boris Rebolledo-Jaramillo

المصدر: BMC Genomics
BMC Genomics, Vol 20, Iss 1, Pp 1-20 (2019)

مصطلحات موضوعية: 0106 biological sciences, qPCR validation, 01 natural sciences, Genome, Animals, Genetically Modified, RNA-Seq variant calling, Mice, Sequencing, Exome sequencing, Mice, Knockout, 0303 health sciences, Intracellular Signaling Peptides and Proteins, High-Throughput Nucleotide Sequencing, Genetic background, SNP genotyping, DNA-Binding Proteins, Ang, Sall2, Biotechnology, Research Article, Cyclin-Dependent Kinase Inhibitor p21, Mice, 129 Strain, lcsh:QH426-470, lcsh:Biotechnology, Quantitative Trait Loci, Congenic, Locus (genetics), Computational biology, Biology, Quantitative trait locus, Congenic mouse, Polymorphism, Single Nucleotide, DNA sequencing, 03 medical and health sciences, Mice, Congenic, Knockout mouse, lcsh:TP248.13-248.65, Exome Sequencing, Genetics, Animals, Embryonic Stem Cells, 030304 developmental biology, Genomic variation, Whole genome sequencing, Cdkn1a, Genes, Modifier, Sequence Analysis, RNA, Genetic interactions, Computational Biology, Modifier genes, Mice, Inbred C57BL, lcsh:Genetics, Gene Expression Regulation, 010606 plant biology & botany, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::475493f4b4415d7d8ce3a83f51f2e0c7
http://europepmc.org/articles/PMC6373082

المؤلفون: Judith Fischer, Amy S. Paller, Matthias Greutmann, Boris Rebolledo-Jaramillo, Martin Theiler, Daniele Castiglia, Ignacia Fuentes, Lisa Weibel, Giovanna Zambruno, Juna Leppert, Francis Palisson, Antonio Barbato, M. Joao Yubero, Hagen Ott, Sofia Burattini, S. Duchatelet, Christoph Gräni, Agnes Schwieger-Briel, Cristina Has, Rodrigo Ibañez-Arenas, Alain Hovnanian

المساهمون: University of Zurich, Schwieger-Briel, Agnes

المصدر: The Journal of investigative dermatology. 139(1)

مصطلحات موضوعية: 0301 basic medicine, Adult, Cardiomyopathy, Dilated, Male, Pathology, medicine.medical_specialty, 1303 Biochemistry, Adolescent, Anetoderma, DNA Mutational Analysis, 610 Medicine & health, Dermatology, medicine.disease_cause, Biochemistry, 2708 Dermatology, 1307 Cell Biology, 03 medical and health sciences, Epidermolysis bullosa simplex, Young Adult, 0302 clinical medicine, medicine, 1312 Molecular Biology, Humans, 10220 Clinic for Surgery, Child, Molecular Biology, Hypopigmentation, Mutation, integumentary system, business.industry, Macular hyperpigmentation, Cell Biology, 10181 Clinic for Nuclear Medicine, DNA, Middle Aged, medicine.disease, Protein ubiquitination, Pedigree, Repressor Proteins, 030104 developmental biology, Hair loss, 030220 oncology & carcinogenesis, Epidermolysis Bullosa Simplex, 10209 Clinic for Cardiology, Female, Epidermolysis bullosa, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::414ca00881e4ca12f76dbb3d4f325ff3
https://pubmed.ncbi.nlm.nih.gov/30579426