المؤلفون: Cecilie F. Rustad, Paul Hoff Backe, Chunsheng Jin, Else Merckoll, Kristian Tveten, Marissa Lucy Maciej‐Hulme, Niclas Karlsson, Trine Prescott, Elise Sandås Sand, Berit Woldseth, Katja Benedikte Prestø Elgstøen, Øystein L. Holla

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)

مصطلحات موضوعية: medical genetics, monogenic disorder, skeletal dysplasia, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/dc7662c3d97b439ab41d265a01d9ab8e

المؤلفون: Kristin Ørstavik, Kjell Arne Arntzen, Per Mathisen, Paul Hoff Backe, Trine Tangeraas, Magnhild Rasmussen, Erle Kristensen, Marijke Van Ghelue, Christoffer Jonsrud, Yngve Thomas Bliksrud

المصدر: JIMD Reports, Vol 63, Iss 3, Pp 193-198 (2022)

مصطلحات موضوعية: HADHB, MTP, mutation, neuropathy, weakness, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/69e9d0a6cc444bf09dbe51d2f46778ba

المؤلفون: Arash Ahmadi, Katharina Till, Paul Hoff Backe, Pernille Blicher, Robin Diekmann, Mark Schüttpelz, Kyrre Glette, Jim Tørresen, Magnar Bjørås, Alexander D. Rowe, Bjørn Dalhus

المصدر: Communications Biology, Vol 4, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2399-3642

URL الوصول: https://doaj.org/article/dc979ac48443432c9defb5314d98f0c6

المؤلفون: Xin Liu, Sanne Risbakk, Patricia Almeida Carvalho, Mingyi Yang, Paul Hoff Backe, Magnar Bjørås, Truls Norby, Athanasios Chatzitakis

المصدر: Electrochemistry Communications, Vol 135, Iss , Pp 107221- (2022)

مصطلحات موضوعية: FeFe-hydrogenase, Bio-inorganic electrode, Enzyme immobilization, Direct electron transfer, TiO2 nanotubes, Black TiO2, Industrial electrochemistry, TP250-261, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1388248122000236; https://doaj.org/toc/1388-2481

URL الوصول: https://doaj.org/article/773a6d60a86d4592b0b5544750d00753

المؤلفون: Toril Ranneberg-Nilsen, Halvor Rollag, Ragnhild Slettebakk, Paul Hoff Backe, Øyvind Olsen, Luisa Luna, Magnar Bjørås

المصدر: PLoS ONE, Vol 7, Iss 3, p e34119 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3313996?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/5690b87f313346c2892d37ec875213f6

المؤلفون: Trine Tangeraas, Juliana R Constante, Paul Hoff Backe, Alfonso Oyarzábal, Julia Neugebauer, Natalie Weinhold, Francois Boemer, François G Debray, Burcu Ozturk-Hism, Gumus Evren, Eminoglu F Tuba, Oncul Ummuhan, Emma Footitt, James Davison, Caroline Martinez, Clarissa Bueno, Irene Machado, Pilar Rodríguez-Pombo, Nouriya Al-Sannaa, Mariela De Los Santos, Jordi Muchart López, Hatice Ozturkmen-Akay, Meryem Karaca, Mustafa Tekin, Sonia Pajares, Aida Ormazabal, Stephanie D Stoway, Rafael Artuch, Marjorie Dixon, Lars Mørkrid, Angeles García-Cazorla

المصدر: Brain.

مصطلحات موضوعية: Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9ea24ee9aad654a9ff2783e846f89ea0
https://doi.org/10.1093/brain/awad010

المؤلفون: Ying Sheng, Yuri Uchiyama, Clara Hammarström, Ane-Marte Øye, Jan Cezary Sitek, Paul Hoff Backe, Hanne Sagsveen Hjorthaug, Anne M. Comi, Kaja Kristine Selmer, Olav Sundnes, Jonathan Pevsner, Magnus Dehli Vigeland, Roar Fjær, Katarzyna Marciniak, Naomichi Matsumoto, Guttorm Haraldsen, Johanna Hol Fosse, Tor Espen Stav-Noraas

المصدر: Human Molecular Genetics

مصطلحات موضوعية: AcademicSubjects/SCI01140, Adult, Models, Molecular, 0301 basic medicine, MAPK/ERK pathway, Adolescent, Protein Conformation, Somatic cell, DNA Mutational Analysis, Mutant, Nortriptyline, Biology, medicine.disease_cause, Structure-Activity Relationship, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Gene Frequency, GTP-Binding Proteins, Sturge-Weber Syndrome, Exome Sequencing, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Child, Molecular Biology, Genetic Association Studies, Genetics (clinical), Mutation, General Medicine, Middle Aged, Cell biology, Protein Subunits, Phenotype, 030104 developmental biology, Ectopic expression, General Article, 030217 neurology & neurosurgery, GNAQ

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d7c61c5297f73b08fd675f71ce76088
https://doi.org/10.1093/hmg/ddab144

المؤلفون: Maria Eugenia Chollet, Heidi Glosli, Paul Hoff Backe, Bernd Thiede, Elisabeth Andersen, Nina Iversen, Carola E. Henriksson, Benedicte Stavik, Marit Sletten, Ellen Skarpen

المصدر: Thrombosis and Haemostasis. 121:1588-1598

مصطلحات موضوعية: Models, Molecular, Proband, Arginine, Mutation, Missense, CHO Cells, Factor VIIa, 030204 cardiovascular system & hematology, Biology, Frameshift mutation, 03 medical and health sciences, Exon, chemistry.chemical_compound, Cricetulus, 0302 clinical medicine, hemic and lymphatic diseases, 0502 economics and business, Animals, Humans, Missense mutation, Genetic Predisposition to Disease, Age of Onset, chemistry.chemical_classification, Hemostasis, Factor VII, Coagulants, Homozygote, 05 social sciences, Exons, Hematology, Endoplasmic Reticulum Stress, Molecular biology, Recombinant Proteins, Amino acid, HEK293 Cells, Phenotype, Treatment Outcome, Protein destabilization, chemistry, Codon, Nonsense, 050211 marketing, Intracranial Hemorrhages

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b86d33f0941a2294ac27f97619ec98fc
https://doi.org/10.1055/a-1450-8568

المؤلفون: Vibeke Sundvold-Gjerstad, Stine Granum, Anne Spurkland, Thorny Cecilie Bie Andersen, B. Göran Karlsson, Morten Sørli, Amy H. Andreotti, Paul Hoff Backe, Per Eugen Kristiansen, Maria U. Johansson, D. Bruce Fulton, Zsuzsa Huszenicza, Hanna Kjelstrup, Ramakrishna Prabhu Gopalakrishnan, Scott E. Boyken

المصدر: Journal of Biological Chemistry
J Biol Chem
15480-15494

مصطلحات موضوعية: 0301 basic medicine, Amino Acid Motifs, chemical and pharmacologic phenomena, SRC Family Tyrosine Kinase, SH2 domain, Proto-Oncogene Mas, Biochemistry, SH3 domain, Protein–protein interaction, src Homology Domains, 03 medical and health sciences, Humans, Protein phosphorylation, Phosphorylation, Molecular Biology, Adaptor Proteins, Signal Transducing, 030102 biochemistry & molecular biology, Chemistry, Signal transducing adaptor protein, hemic and immune systems, Cell Biology, Protein-Tyrosine Kinases, Cell biology, 030104 developmental biology, HEK293 Cells, Lymphocyte Specific Protein Tyrosine Kinase p56(lck), Proto-oncogene tyrosine-protein kinase Src, Protein Binding, Signal Transduction

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09cfc7a81c034588204a3cbfa7ade9bf

المؤلفون: Dulika Sumathipala, Petter Strømme, Zohreh Fattahi, Torben Lüders, Ying Sheng, Kimia Kahrizi, Ingunn Holm Einarsen, Jennifer L Sloan, Hossein Najmabadi, Lambert van den Heuvel, Ron A Wevers, Sergio Guerrero-Castillo, Lars Mørkrid, Vassili Valayannopoulos, Paul Hoff Backe, Charles P Venditti, Clara D van Karnebeek, Hilde Nilsen, Eirik Frengen, Doriana Misceo

المساهمون: Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Paediatrics, Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Brain, 145, 7, pp. 2602-2616
Brain, 145(7), 2602-2616. Oxford University Press
Brain, 145, 2602-2616

مصطلحات موضوعية: Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], chromatin immunoprecipitation (ChIP)-sequencing, malonic aciduria, RNA-sequencing, Brain, Humans, methylmalonic aciduria, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Neurology (clinical), ZBTB11, Nervous System Malformations, Amino Acid Metabolism, Inborn Errors, Metabolism, Inborn Errors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acbedb4cd7bdb802bcd7b638b2735663
https://pubmed.ncbi.nlm.nih.gov/35104841

المؤلفون: Ul, Toril Ranneberg-nilsen, Halvor Rollag, Ragnhild Slettebakk, Paul Hoff Backe, Øyvind Olsen

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/25/99/PLoS_One_2012_Mar_27_7(3)_e34119.tar.gz

وصف الملف: application/zip

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.270.8928

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.270.8928

المؤلفون: Kaiqi Xu, Junwang Tang, Athanasios Chatzitakis, Qiushi Ruan, Frode Rise, Magnar Bjørås, Paul Hoff Backe, Truls Norby

المصدر: 296:120349
Applied Catalysis B: Environmental

مصطلحات موضوعية: biology, Chemistry, Process Chemistry and Technology, 02 engineering and technology, Photoelectrochemical cell, Nicotinamide adenine dinucleotide, 010402 general chemistry, 021001 nanoscience & nanotechnology, Electrochemistry, Formate dehydrogenase, 7. Clean energy, 01 natural sciences, Combinatorial chemistry, Catalysis, Cofactor, 0104 chemical sciences, chemistry.chemical_compound, biology.protein, NAD+ kinase, 0210 nano-technology, Selectivity, Faraday efficiency, General Environmental Science

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ac42ad01d7e5097dc4e05aae0234ed2
https://doi.org/10.1016/j.apcatb.2021.120349

المؤلفون: Maria Eugenia Chollet, Elisabeth Andersen, Per Morten Sandset, Ellen Skarpen, Benedicte Stavik, Paul Hoff Backe, Christiane Filion Myklebust, Nina Iversen, Marit Sletten, Carola E. Henriksson, Heidi Glosli

المصدر: Blood. 136:21-22

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Factor VII, business.industry, Immunology, Cell Biology, Hematology, Biochemistry, chemistry.chemical_compound, chemistry, hemic and lymphatic diseases, medicine, cardiovascular diseases, business, Intracranial bleeding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d46f3551e7799f58a71f9d83e136bce8
https://doi.org/10.1182/blood-2020-139219

المؤلفون: Magnar Bjørås, Athanasios Chatzitakis, Kaiqi Xu, Sanne Risbakk, Paul Hoff Backe, Mingyi Yang, Mathieu Grandcolas, Truls Norby

المصدر: Catalysis Today

مصطلحات موضوعية: Materials science, Hydrogen, chemistry.chemical_element, Tantalum nitride, 02 engineering and technology, 010402 general chemistry, 01 natural sciences, Catalysis, chemistry.chemical_compound, Electrodeposition, Photocurrent, Nanotubes, Toxicity, General Chemistry, Solar illumination, 021001 nanoscience & nanotechnology, 0104 chemical sciences, Chemical engineering, chemistry, Electrode, Water splitting, 0210 nano-technology, Mesoporous material, Photoelectrochemical water splitting

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e810c153b9a7d1c320aafc857fd6b8c
https://hdl.handle.net/11250/2760514

المؤلفون: Kefah Al-Qa'qa', Ali Al-Hawamdeh, Wajdi Amayreh, Buthaina Al Rababah, Hebah Deebajah, Saied A. Jaradat, Maha Karam, Paul Hoff Backe, Batool Al-Zoubi

المصدر: Meta Gene. 10:81-85

مصطلحات موضوعية: 0301 basic medicine, Proband, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, Maple syrup urine disease, nutritional and metabolic diseases, BCKDHB, BCKDHA, Biology, medicine.disease, medicine.disease_cause, 03 medical and health sciences, Exon, 030104 developmental biology, medicine, Missense mutation, Gene, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e67c2856e6c57aeecae2429df43c6d4
https://doi.org/10.1016/j.mgene.2015.10.002

المؤلفون: Robert Lyle, Hanne Sørmo Sorte, Richard A. Gibbs, Paul Hoff Backe, Zeynep Coban Akdemir, Asbjørg Stray-Pedersen, Shalini N. Jhangiani, Pål Aukrust, Liv T. N. Osnes, Olaug K. Rødningen, Ole B Kittang, Torstein Øverland, Pubudu S. Samarakoon, Børre Fevang, Tore G. Abrahamsen, Hans Christian Erichsen, Magnus Dehli Vigeland, Tomasz Gambin, Donna M. Muzny, James R. Lupski

المصدر: Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: 0301 basic medicine, TMC6, Biology, primary immunodeficiency, molluscum contagiosum, 03 medical and health sciences, 0302 clinical medicine, Immunophenotyping, Absence of heterozygosity, warts, Genetics, medicine, Missense mutation, Molecular Biology, Exome, Genetics (clinical), Exome sequencing, Molluscum contagiosum, founder variant, Haplotype, RLTPR, Original Articles, CARMIL2, medicine.disease, Virology, 3. Good health, lymphocyte function, 030104 developmental biology, 030220 oncology & carcinogenesis, Immunology, Primary immunodeficiency, lymphocyte subpopulation, Original Article, exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f678c838780cd138a58e538e42d72e8b
http://europepmc.org/articles/PMC5118205

المؤلفون: Guy Froyen, Matthias Altmeyer, Barbara van Loon, F. Lucy Raymond, Matthias Bosshard, Enni Markkanen, Rossana Aprigliano, Cristina Gattiker, Stefania Pellegrino, Grigory L. Dianov, Paul Hoff Backe, Vuk Palibrk, Magnar Bjørås

المصدر: Scientific Reports, Vol 8, Iss 1, Pp 1-1 (2018)
Scientific Reports

مصطلحات موضوعية: DNA Repair, X-linked intellectual disability, Ubiquitin-Protein Ligases, MEDLINE, lcsh:Medicine, 010402 general chemistry, medicine.disease_cause, 01 natural sciences, Genomic Instability, Cell Line, Genes, X-Linked, Intellectual Disability, Humans, Medicine, lcsh:Science, DNA Polymerase beta, Multidisciplinary, 010405 organic chemistry, business.industry, Tumor Suppressor Proteins, lcsh:R, medicine.disease, Publisher Correction, 0104 chemical sciences, Oxidative Stress, Mutation, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, lcsh:Q, business, Oxidative stress, Clinical psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f7ba587c83d1c0aa21a115029655951
https://doi.org/10.1038/s41598-018-24189-2

المؤلفون: Ane-Marte Øye, Paul Hoff Backe, Kjell Arne Kvistad, Roar Fjær, Kaja Kristine Selmer, Eylert Brodtkorb, Ying Sheng, Magnus Dehli Vigeland

المصدر: European Journal of Medical Genetics. 58:624-628

مصطلحات موضوعية: Adult, Male, Molecular Sequence Data, Mutation, Missense, PDGFRB, Receptors, Nicotinic, Biology, Basal Ganglia, Epilepsy, symbols.namesake, Genetics, medicine, Humans, Missense mutation, Amino Acid Sequence, Generalized epilepsy, Genetics (clinical), Exome sequencing, Sanger sequencing, PDGFB, Sodium-Phosphate Cotransporter Proteins, Type III, Calcinosis, General Medicine, Phenotypic trait, Middle Aged, medicine.disease, Pedigree, symbols, Epilepsy, Generalized, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0b6f16acbb7b5416ffbdd137ab15a55
https://doi.org/10.1016/j.ejmg.2015.10.005

المؤلفون: Tomasz Gambin, Stylianos E. Antonarakis, Jennifer McEvoy-Venneri, Najmeh Ahangari, Kiely N. James, Justyna Iwaszkiewicz, Amera Elbadawy, Shalini N. Jhangiani, Zeynep Coban Akdemir, Asbjørg Stray-Pedersen, Valentina Stanley, Federico Santoni, Vincent Zoete, Paul Hoff Backe, Reza Maroofian, Damir Musaev, Denice Belandres, Joseph G. Gleeson, Arvid Heiberg, Periklis Makrythanasis, James R. Lupski, Iman G Mahmoud, Mohammad Doosti, Laila Selim, Maha S. Zaki, Hanan Hamamy, Fatemeh Tara, Michel Guipponi, Ehsan Ghayoor Karimiani, Hanne Sørmo Sorte

المصدر: European Journal of Human Genetics
European journal of human genetics, vol. 26, no. 3, pp. 330-339

مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Mutation, Missense, Kinesins, Biology, medicine.disease_cause, Article, 03 medical and health sciences, 0302 clinical medicine, Protein Domains, Loss of Function Mutation, Child, Child, Preschool, Female, Humans, Intellectual Disability/genetics, Intellectual Disability/pathology, Kinesin/chemistry, Kinesin/genetics, Kinesin/metabolism, Microcephaly/genetics, Microcephaly/pathology, Oncogene Proteins/chemistry, Oncogene Proteins/genetics, Oncogene Proteins/metabolism, Pedigree, Phenotype, Syndrome, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Mitosis, Genetics (clinical), Oncogene Proteins, Mutation, medicine.disease, 3. Good health, 030104 developmental biology, Kinesin, Spindle localization, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ac4519c9762812054ab57ca69ceebe8
http://hdl.handle.net/10852/71698

المؤلفون: Paul Hoff Backe, F. Lucy Raymond, Matthias Altmeyer, Magnar Bjørås, Vuk Palibrk, Stefania Pellegrino, Guy Froyen, Barbara van Loon, Rossana Aprigliano, Matthias Bosshard, Cristina Gattiker, Grigory L. Dianov, Enni Markkanen

المساهمون: Raymond, Lucy [0000-0003-2652-3355], Apollo - University of Cambridge Repository, University of Zurich, van Loon, Barbara

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, DNA Repair, DNA repair, X-linked intellectual disability, Ubiquitin-Protein Ligases, lcsh:Medicine, medicine.disease_cause, Article, Genomic Instability, Cell Line, 03 medical and health sciences, Neurodevelopmental disorder, Genes, X-Linked, Intellectual Disability, Gene duplication, medicine, Humans, lcsh:Science, Gene, DNA Polymerase beta, Genetics, 1000 Multidisciplinary, Mutation, Multidisciplinary, biology, Tumor Suppressor Proteins, lcsh:R, medicine.disease, 10226 Department of Molecular Mechanisms of Disease, Ubiquitin ligase, Oxidative Stress, 030104 developmental biology, biology.protein, 570 Life sciences, lcsh:Q, Oxidative stress

وصف الملف: application/pdf; 41598_2017_Article_15380.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18d573b2be69ff623ad67a88617f91d6
https://doi.org/10.1038/s41598-017-15380-y