المؤلفون: Sailan Wang, Pernilla Nikamo, Leena Laasonen, Bjorn Gudbjornsson, Leif Ejstrup, Lars Iversen, Ulla Lindqvist, Jessica J Alm, Jesper Eisfeldt, Xiaowei Zheng, Sergiu-Bogdan Catrina, Fulya Taylan, Raquel Vaz, Mona Ståhle, Isabel Tapia-Paez

المصدر: EMBO Molecular Medicine, Vol 16, Iss 3, Pp 596-615 (2024)

مصطلحات موضوعية: NADPH Oxidase 4 (NOX4), Psoriatic Arthritis Mutilans, Reactive Oxygen Species (ROS), Hydrogen Peroxide, Osteoclast Differentiation, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/d7a494fdd8c144ae87005d0481ad98df

المؤلفون: Sailan Wang, Julia K. Elmgren, Jesper Eisfeldt, Samina Asad, Marlene Ek, Kassahun Bilcha, Annisa Befekadu, Carl-Fredrik Wahlgren, Magnus Nordenskjöld, Fulya Taylan, Isabel Tapia-Paez, Maria Bradley

المصدر: JID Innovations, Vol 4, Iss 4, Pp 100284- (2024)

مصطلحات موضوعية: Atopic dermatitis, FLG2, Genetic association, NOD2, Whole-genome sequencing, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2667026724000316; https://doaj.org/toc/2667-0267

URL الوصول: https://doaj.org/article/75bdc359543b4bccb2e07264566ac53b

المؤلفون: Isabel Tapia-Paez

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6466a2af3dc98da2abadd1dba007f941
https://doi.org/10.26226/m.6437c123ed69430011f2f543

المؤلفون: Andrea Bieder, Gayathri Chandrasekar, Arpit Wason, Steffen Erkelenz, Jay Gopalakrishnan, Juha Kere, Isabel Tapia-Páez

المصدر: BMC Molecular and Cell Biology, Vol 24, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Cilia, Centrosome, Dyslexia, Genetic interaction, Zebrafish, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2661-8850

URL الوصول: https://doaj.org/article/5a629c5f0dd84427b3b6480a114b3a49

المؤلفون: Andrea Bieder, Hong Jiao, Jingwen Wang, Satu Massinen, Isabel Tapia Paez, Juha Kere, Krista Laivuori

المساهمون: Research Programs Unit, Juha Kere / Principal Investigator, Research Programme of Molecular Medicine, Research Programme for Molecular Neurology

المصدر: Massinen, S, Wang, J, Laivuori, K, Bieder, A, Tapia Paez, I, Jiao, H & Kere, J 2016, ' Genomic sequencing of a dyslexia susceptibility haplotype encompassing ROBO1 ', Journal Of Neurodevelopmental Disorders, vol. 8, no. 1, 4 . https://doi.org/10.1186/s11689-016-9136-y
Journal of Neurodevelopmental Disorders

مصطلحات موضوعية: 0301 basic medicine, EXPRESSION, Candidate gene, DATABASE, Cognitive Neuroscience, Locus (genetics), CHROMOSOME-3, Biology, VARIANTS, Genome, Pathology and Forensic Medicine, Dyslexia, 03 medical and health sciences, 0302 clinical medicine, ROBO1, WIDE ASSOCIATION, TRANSCRIPTION FACTOR, Allele, Gene, Whole genome sequencing, Genetics, GUIDANCE, Research, Haplotype, 3112 Neurosciences, GENE, FAMILY, 030104 developmental biology, Pediatrics, Perinatology and Child Health, DEVELOPMENTAL DYSLEXIA, Neurology (clinical), 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e3c4a47bf6b0983bfe55167c9a37286
https://kclpure.kcl.ac.uk/en/publications/9f3319d8-c5e5-401d-8e81-3c5a87b55e53

المؤلفون: Ilkka Sipilä, Timo Otonkoski, Guy A. Rutter, Andrew P. Halestrap, Nina Kaminen-Ahola, Isabel Tapia-Paez, Ertan Mayatepek, Juha Kere, Laura E. Parton, Roel Quintens, Frans Schuit, Hong Jiao, Mohammed S. Ullah, Thomas Meissner

المصدر: The American Journal of Human Genetics. 81:467-474

مصطلحات موضوعية: Male, Monocarboxylic Acid Transporters, medicine.medical_specialty, medicine.medical_treatment, Molecular Sequence Data, Electrophoretic Mobility Shift Assay, 030209 endocrinology & metabolism, Biology, medicine.disease_cause, Article, Mice, 03 medical and health sciences, 0302 clinical medicine, Insulin-Secreting Cells, Internal medicine, Genetics, medicine, Animals, Humans, Gene silencing, Genetics(clinical), Gene Silencing, Promoter Regions, Genetic, Exercise, Gene, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, Base Sequence, Symporters, Insulin, medicine.disease, Hypoglycemia, Pedigree, medicine.anatomical_structure, Endocrinology, Monocarboxylate transporter 1, Symporter, biology.protein, Female, Pancreas, Hyperinsulinism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cae76664e270cd975412f7b416e8755
https://doi.org/10.1086/520960

المؤلفون: Britt-Marie Anderlid, Juha Kere, Valtteri Wirta, Lena Samuelsson, Magnus Nordenskjöld, Isabel Tapia Paez, Francesco Vezzi, Wolfgang Hofmeister, Alexandra Topa, Elisabeth Syk Lundberg, Fahimeh Darki, Hans Matsson, Anna Lindstrand, Torkel Klingberg, Daniel Nilsson

المصدر: Journal of medical genetics. 52(2)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Candidate gene, Delta Catenin, Adolescent, Green Fluorescent Proteins, Molecular Sequence Data, Biology, Polymorphism, Single Nucleotide, Translocation, Genetic, 03 medical and health sciences, Chromosome Breakpoints, Young Adult, 0302 clinical medicine, Cognition, Molecular genetics, Intellectual Disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, Child, Zebrafish, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Base Sequence, Breakpoint, Dyslexia, Chromosome, Catenins, Exons, Sequence Analysis, DNA, Zebrafish Proteins, medicine.disease, biology.organism_classification, White Matter, Introns, Pedigree, Reading, Genetic Loci, Mutation, Medical genetics, Female, Haploinsufficiency, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cf78501d8e7601e1f2c5d4a4c1a3023
https://pubmed.ncbi.nlm.nih.gov/25473103

المؤلفون: Buckley, Patrick, Mantripragada, Kiran, Benetkiewicz, Magdalena, Isabel, Tapia-Paez, Diaz de Ståhl, Teresita, Rosenquist, Magnus, Haider, Ali, Jarbo, Caroline, de Bustos, Cecilia, Hirvelä, Carina

المصدر: Human Molecular Genetic. 11(25):3221-3229

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-93930

المؤلفون: Andrea Bieder, Elisabet Einarsdottir, Hans Matsson, Harriet E. Nilsson, Jesper Eisfeldt, Anca Dragomir, Martin Paucar, Tobias Granberg, Tie-Qiang Li, Anna Lindstrand, Juha Kere, Isabel Tapia-Páez

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: Developmental dyslexia, Situs inversus, Primary ciliary dyskinesia, L-R asymmetry defects, Whole genome sequencing, SNVs, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-020-01020-2; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/5544082e59974e9a9eb410d7ba08276a

المؤلفون: Samina Asad, Isabel Tapia-Páez, Andrea Montano Montes, Carl-Fredrik Wahlgren, Kassahun D. Bilcha, Magnus Nordenskjöld, Maria Bradley

المصدر: Acta Dermato-Venereologica, Vol 99, Iss 1, Pp 101-102 (2018)

مصطلحات موضوعية: Dermatology, RL1-803

وصف الملف: electronic resource

Relation: https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3051; https://doaj.org/toc/0001-5555; https://doaj.org/toc/1651-2057

URL الوصول: https://doaj.org/article/29291ca9472f483787a84d451de87573