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1دورية أكاديمية
المؤلفون: Kristoffer Haugarvoll, Stefan Johansson, Carlos E Rodriguez, Helge Boman, Bjørn Ivar Haukanes, Ove Bruland, Francisco Roque, Inge Jonassen, Maria Blomqvist, Wenche Telstad, Jan-Eric Månsson, Per Morten Knappskog, Laurence A Bindoff
المصدر: PLoS ONE, Vol 12, Iss 1, p e0169309 (2017)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Charalampos Tzoulis, Stefan Johansson, Bjørn Ivar Haukanes, Helge Boman, Per Morten Knappskog, Laurence A Bindoff
المصدر: PLoS ONE, Vol 8, Iss 6, p e66145 (2013)
وصف الملف: electronic resource
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المؤلفون: Maria Nolano, Neil M. Nathanson, Helge Boman, Beth A. Habecker, Angelika F Hahn, Stefan Johansson, Mariarosa A. B. Melone, Per M. Knappskog, Michael J. Pellegrino
المساهمون: Melone, Mariarosa Anna Beatrice, Pellegrino, Michael J, Nolano, Maria, Habecker, Beth A, Johansson, Stefan, Nathanson, Neil M, Knappskog, Per M, Hahn, Angelika F, Boman, Helge, Melone, Mariarosa A. B., Pellegrino, Michael J., Habecker, Beth A., Nathanson, Neil M., Knappskog, Per M., Hahn, Angelika F.
المصدر: Annals of Clinical and Translational Neurology
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Leukemia inhibitory factor receptor, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Medicine, Exome sequencing, 030304 developmental biology, Isodisomy, 0303 health sciences, Heat intolerance, Mutation, Neuroscience (all), integumentary system, business.industry, General Neuroscience, Chromosome, medicine.disease, 3. Good health, Dysplasia, Cholinergic, Neurology (clinical), medicine.symptom, Brief Communications, business, 030217 neurology & neurosurgery
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المؤلفون: André Paget, Philippe Nicoud, Charline Henry, Emilie Filhol, Sabine Leh, Fan Yang, Flora Silbermann, Jan Halbritter, Alexandre Benmerah, Arthur Gutter, Friedhelm Hildebrandt, Per M. Knappskog, Anne E.C. Mellgren, Heon Yung Gee, Richard Sandford, Cecilie Bredrup, Dominique Joly, Pauline Krug, Helge Boman, Sophie Saunier, Christine Bole-Feysot, Nurcan Cengiz, Heidi Haugland, Maxence S. Macia, Marion Delous, Damien Brackmann, Nayir Ahmet, Eyvind Rødahl, Andreas W. Sailer, Edward J. Oakeley, Bolan Linghu, Daniela A. Braun, Stefan Johansson, Albane A. Bizet, Patrick Nitschke, Pierre Saint Mézard
المساهمون: Laboratoire des Maladies Rénales Héréditaires, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Harvard Medical School [Boston] (HMS), Universitätsklinikum Leipzig [Germany] (UKL), Haukeland University Hospital, University of Bergen (UiB), Molecular bases of hereditary kidney diseases: nephronophthisis and hypodysplasia (Equipe Inserm U1163), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpitaux du Pays du Mont-Blanc, Førde Central Hospital [Førde, Norway] (FCH), Istanbul University, University of Cambridge [UK] (CAM), Baskent University, Novartis Institutes for Biomedical Research [Cambridge, MA, USA], Novartis Institutes for BioMedical Research (NIBR), Benmerah, Alexandre
المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 2017, 100 (2), pp.323-333. ⟨10.1016/j.ajhg.2016.12.011⟩مصطلحات موضوعية: 0301 basic medicine, Candidate gene, 030232 urology & nephrology, Cell Cycle Proteins, [SDV.GEN] Life Sciences [q-bio]/Genetics, 030105 genetics & heredity, MAPKBP1, Kidney, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Mice, 0302 clinical medicine, Spindle Poles, Child, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Zebrafish, Genetics, Mice, Knockout, Cilium, Intracellular Signaling Peptides and Proteins, Kidney Diseases, Cystic, Phenotype, Pedigree, mitotic spindle, Signal Transduction, Adolescent, Mitosis, Late onset, Nerve Tissue Proteins, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biology, 03 medical and health sciences, Young Adult, Nephronophthisis, retinitis pigmentosa, Ciliogenesis, Report, [SDV.BDD] Life Sciences [q-bio]/Development Biology, Retinitis pigmentosa, medicine, Juvenile, Animals, Humans, digenism, Cilia, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, Gene, Alleles, WDR62, [SDV.GEN]Life Sciences [q-bio]/Genetics, Correction, Fibroblasts, medicine.disease, [SDV.MHEP.UN] Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Fibrosis, Human genetics, Ciliopathy, Disease Models, Animal, ciliopathy, 030104 developmental biology, Gene Expression Regulation, nephronophthisis, Mutation, NIH 3T3 Cells, Kidney Failure, Chronic, MAP kinase, 030217 neurology & neurosurgery, DNA Damage
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المؤلفون: Helge Boman, Cengiz Yalcinkaya, Ozgur Kasapcopur, Zehra Isik Hasiloglu, Per M. Knappskog, Beyhan Tüysüz
المصدر: Brain and Development. 35:596-601
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Adolescent, Turkey, DNA Mutational Analysis, Mutation, Missense, Sweating, Scoliosis, Fluid-attenuated inversion recovery, Nerve Fibers, Myelinated, White matter, Young Adult, Camptodactyly, Developmental Neuroscience, medicine, Humans, Hyperhidrosis, Missense mutation, Receptors, Cytokine, Kyphoscoliosis, medicine.diagnostic_test, business.industry, Siblings, Brain, Magnetic resonance imaging, General Medicine, Anatomy, medicine.disease, Magnetic Resonance Imaging, Cold Temperature, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, business
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المؤلفون: Bernarda, Lozic, Stefan, Johansson, Sanja, Lovric Kojundzic, Josko, Markic, Per Morten, Knappskog, Angelika F, Hahn, Helge, Boman
المصدر: Annals of Clinical and Translational Neurology
مصطلحات موضوعية: Brief Communication, Brief Communications
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المؤلفون: Angelika F Hahn, Helge Boman, Joško Markić, Sanja Lovric Kojundzic, Per M. Knappskog, Bernarda Lozić, Stefan Johansson
مصطلحات موضوعية: 0301 basic medicine, Nervous system, medicine.medical_specialty, Respiratory distress, business.industry, General Neuroscience, Central apnea, NALCN, sodium leak channel, infancy, Sevoflurane, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Endocrinology, Internal medicine, medicine, Missense mutation, Neurology (clinical), Global developmental delay, Circadian rhythm, Respiratory system, business, 030217 neurology & neurosurgery, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4e334e3cff90e83a8bf12b1bf0c310d
https://www.bib.irb.hr/921903 -
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المؤلفون: Torunn Fiskerstrand, Helge Boman, Jaran Apold, Khanh Pham, Siv L Tonder, Najla Arshad, Stefan Johansson, Rune Rose Tronstad, Sandhya S. Visweswariah, Nils Hovdenak, Bjørn Ivar Haukanes, Bjarte Håvik, Damien Brackman, Kabir H. Biswas, Shawn Levy, Per M. Knappskog
المصدر: New England Journal of Medicine. 366:1586-1595
مصطلحات موضوعية: Diarrhea, Male, Heterozygote, medicine.medical_specialty, Receptors, Peptide, Genetic Linkage, Mutation, Missense, Receptors, Enterotoxin, medicine.disease_cause, Polymorphism, Single Nucleotide, Inflammatory bowel disease, Cystic fibrosis, Proinflammatory cytokine, Internal medicine, medicine, Humans, Missense mutation, Cyclic GMP, Exome sequencing, Mutation, business.industry, Heterozygote advantage, General Medicine, medicine.disease, Pedigree, Endocrinology, Receptors, Guanylate Cyclase-Coupled, Chronic Disease, Female, medicine.symptom, business, Signal Transduction
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المؤلفون: Dario Brunetti, Helge Boman, Aurelio Reyes, Cristina Dallabona, Raffaele Cerutti, Per M. Knappskog, Pedro Teixeira, Carmela Preziuso, Giulia d'Amati, Carlo Viscomi, Stefan Johansson, Enrico Baruffini, Massimo Zeviani, Janniche Torsvik, Ileana Ferrero, Paweł Sztromwasser, Elzbieta Glaser, Laurence A. Bindoff, Wenche Telstad, Paola Goffrini, Erika Fernandez-Vizarra
المساهمون: Reyes Tellez, Aurelio [0000-0003-2876-2202], Viscomi, Carlo [0000-0001-6050-0566], Apollo - University of Cambridge Repository
المصدر: EMBO Molecular Medicine
مصطلحات موضوعية: 0301 basic medicine, Mice, Models, News & Views, Cognitive decline, Inner mitochondrial membrane, 2. Zero hunger, Genetics, Histocytochemistry, Amyloid beta, Mitochondrial disease, Mitochondrial targeting sequence, Neurodegeneration, Pitrilysin 1, Amyloid beta-Peptides, Animals, Brain, Disease Models, Animal, Humans, Magnetic Resonance Imaging, Metalloendopeptidases, Models, Biological, Muscle, Skeletal, Mutant Proteins, Mutation, Missense, Neurodegenerative Diseases, Saccharomyces cerevisiae, Siblings, Skeletal, 3. Good health, Spinocerebellar ataxia, Molecular Medicine, Muscle, amyloid beta, mitochondrial disease, mitochondrial targeting sequence, neurodegeneration, pitrilysin 1, Biology, 03 medical and health sciences, medicine, Animal, medicine.disease, Biological, Molecular biology, 030104 developmental biology, Proteostasis, Metabolism, Disease Models, Mutation, biology.protein, DNAJA3, Genetics, Gene Therapy & Genetic Disease, Missense, Neuroscience
وصف الملف: application/pdf
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المؤلفون: Heleen H. Arts, Nine V A M Knoers, Machteld M. Oud, Jan-Stephan F. Sanders, Marit Midtbø, Sabine Leh, Marie Matignon, Cécile Jeanpierre, Per M. Knappskog, Dorus A. Mans, Ronald Roepman, Ben C.J. Hamel, Irene Stolte-Dijkstra, Eric J. Steenbergen, Eyvind Rødahl, Cecilie Bredrup, Christian Gilissen, Damien Brackman, Emilie Filhol, Olav H. Haugen, Helge Boman, Rolph Pfundt, Torunn Fiskerstrand, Christine Bole-Feysot, Patrick Nitschké, Joris A. Veltman, Sophie Saunier, Alexander Hoischen
المساهمون: Groningen Kidney Center (GKC), Groningen Institute for Organ Transplantation (GIOT)
المصدر: American Journal of Human Genetics, 89, 5, pp. 634-43
American Journal of Human Genetics, 89, 634-43
The American Journal of Human Genetics; Vol 89
American Journal of Human Genetics, 89(5), 634-643. CELL PRESSمصطلحات موضوعية: Male, RIB-POLYDACTYLY SYNDROME, Genetics and epigenetic pathways of disease [NCMLS 6], PROTEIN, Ciliopathies, Craniofacial Abnormalities, Ectodermal Dysplasia, Genetics(clinical), Exome, Child, Genetics (clinical), Exome sequencing, Netherlands, Oligonucleotide Array Sequence Analysis, BARDET-BIEDL-SYNDROME, Genetics, 0303 health sciences, Polycystic Kidney Diseases, Norway, Cilium, 030305 genetics & heredity, Intracellular Signaling Peptides and Proteins, CRANIOECTODERMAL DYSPLASIA, DEFECTS, NEPHRONOPHTHISIS, 3. Good health, Pedigree, Sensenbrenner syndrome, Morocco, INTRAFLAGELLAR TRANSPORT, Flagella, Female, SENSENBRENNER-SYNDROME, Adult, Adolescent, Molecular Sequence Data, Mutation, Missense, PRIMARY CILIA, Biology, Short Rib-Polydactyly Syndrome, 03 medical and health sciences, Young Adult, Bardet–Biedl syndrome, Thoracic Diseases, Nephronophthisis, Intraflagellar transport, Translational research [ONCOL 3], Report, medicine, Humans, Cilia, 030304 developmental biology, Proteins, ASPHYXIATING THORACIC DYSTROPHY, Fibroblasts, medicine.disease, Cytoskeletal Proteins, Genetics and epigenetic pathways of disease Renal disorder [NCMLS 6], Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]
وصف الملف: application/pdf