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المؤلفون: Hanna Niehues, Gijs Rikken, Ferry F.J. Kersten, Jorine M. Eeftens, Ivonne M.J.J. van Vlijmen-Willems, Diana Rodijk-Olthuis, Patrick A.M. Jansen, Wiljan J.A.J. Hendriks, Thomas H.A. Ederveen, Joost Schalkwijk, Ellen H. van den Bogaard, Patrick L.J.M. Zeeuwen
المصدر: Journal of Investigative Dermatology.
مصطلحات موضوعية: Cell Biology, Dermatology, Molecular Biology, Biochemistry
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6cd779bcc49aa5a4f61f620f41b48fbc
https://doi.org/10.1016/j.jid.2023.01.022 -
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المؤلفون: Martijn Verdoes, Ivonne M.J.J. van Vlijmen-Willems, Ferry F.J. Kersten, Sjef Verbeek, Thomas Reinheckel, Tsing Cheng, Merel A.W. Oortveld, Wiljan Hendriks, Patrick L.J.M. Zeeuwen, Piet E.J. van Erp, Joost Schalkwijk
المصدر: The Faseb Journal, 31, 4286-4294
The Faseb Journal, 31, 10, pp. 4286-4294
The FASEB Journal
FASEB Journal, 31(10), 4286-4294مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Proteases, Cathepsin L, Transgene, cysteine protease inhibitor, activity-based probes, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Biology, Biochemistry, Cathepsin B, Mice, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, epidermis, Genetics, medicine, Animals, Humans, Molecular Biology, Involucrin, Cells, Cultured, Skin, integumentary system, Cystatin M, Research, Cell Differentiation, Hair follicle, alopecia, Molecular biology, Cysteine protease, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, Hair follicle morphogenesis, 030220 oncology & carcinogenesis, proteases, Hair Follicle, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], Biotechnology
وصف الملف: application/pdf
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المؤلفون: Ferry F.J. Kersten, E. van den Bogaard, Masashi Narita, Judith G.M. Bergboer, I.M.J.J. van Vlijmen-Willems, Wiljan Hendriks, Hanna Niehues, Patrick L.J.M. Zeeuwen, Joost Schalkwijk
المصدر: British Journal of Dermatology, 174, 4, pp. 795-802
British Journal of Dermatology, 174, 795-802مصطلحات موضوعية: 0301 basic medicine, Adult, Keratinocytes, Protein family, Adolescent, Stratum granulosum, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Human skin, Dermatology, Biology, Models, Biological, Cornified envelope, 030207 dermatology & venereal diseases, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Cornified Envelope Proline-Rich Proteins, medicine, Stratum corneum, Humans, Psoriasis, Cells, Cultured, Aged, Genetics, integumentary system, Mouth Mucosa, Middle Aged, In vitro, Cell biology, 030104 developmental biology, medicine.anatomical_structure, Real-time polymerase chain reaction, Immunohistochemistry, Epidermis, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5]
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المؤلفون: Syed Tahir-A. Shah, Raheel Qamar, Alamdar Hussain, Maleeha Azam, Ferry F.J. Kersten, Hannie Kremer, Frans P.M. Cremers, Anneke I. den Hollander, Jan E.E. Keunen, Muhammad Imran Khan, Rob W.J. Collin
المصدر: Ophthalmology, 118, 1444-8
Ophthalmology, 118, 7, pp. 1444-8مصطلحات موضوعية: Adult, Genetics and epigenetic pathways of disease [NCMLS 6], Proline, genetic structures, Fundus Oculi, Genetic Linkage, Population, Intracellular Space, Mutation, Missense, Genes, Recessive, medicine.disease_cause, Polymorphism, Single Nucleotide, Consanguinity, Young Adult, Genetic linkage, Leucine, Night Blindness, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Retinitis pigmentosa, medicine, Electroretinography, otorhinolaryngologic diseases, Missense mutation, Humans, Tissue Distribution, education, Genetics, Mutation, education.field_of_study, medicine.diagnostic_test, business.industry, Tryptophan, Membrane Proteins, DNA, Glycostation disorders [IGMD 4], medicine.disease, Microarray Analysis, eye diseases, Ophthalmology, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], Audiometry, Pure-Tone, Pure tone audiometry, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], business, Erg, Retinitis Pigmentosa
وصف الملف: application/pdf
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المؤلفون: Hannie Kremer, Tina Märker, Kim I. M. Brandwijk, Ronald Roepman, Dorus A. Mans, Ferry F.J. Kersten, Theo A. Peters, Stef J.F. Letteboer, Uwe Wolfrum, Xiumin Yan, Cor W. R. J. Cremers, Erwin van Wijk, Frans P.M. Cremers, Aileen Kartono
المصدر: Human Molecular Genetics, 18, 1, pp. 51-64
Human Molecular Genetics, 18, 51-64مصطلحات موضوعية: Gene isoform, Retinal degeneration, Candidate gene, Genetics and epigenetic pathways of disease [NCMLS 6], Usher syndrome, Molecular Sequence Data, Optic Atrophy, Hereditary, Leber, Biology, In Vitro Techniques, Neuroinformatics [DCN 3], Ciliopathies, Retina, Cell Line, Mice, Ciliogenesis, Two-Hybrid System Techniques, Genetics, medicine, otorhinolaryngologic diseases, Animals, Humans, Protein Isoforms, Photoreceptor Cells, Amino Acid Sequence, Nuclear protein, Rats, Wistar, Eye Proteins, Molecular Biology, Genetics (clinical), Extracellular Matrix Proteins, Cilium, Nuclear Proteins, General Medicine, Articles, medicine.disease, Rats, Mice, Inbred C57BL, Microtubule-Associated Proteins, Sequence Alignment, Usher Syndromes, Functional Neurogenomics [DCN 2], Protein Binding
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dadf1721acf3497aa971f12fb5bcd7bd
https://hdl.handle.net/2066/80984 -
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المؤلفون: Lenka Ivings, Martin McKibbin, Uwe Wolfrum, Erwin van Wijk, Ferry F.J. Kersten, Bert van der Zwaag, Michael E. Cheetham, Tim M. Strom, G. A. Williams, Sylvia E. C. van Beersum, Chris F. Inglehearn, Sharola Dharmaraj, Marius Ueffing, Tina Sedmak, Frans P.M. Cremers, C. Geoff Woods, Joris A. Veltman, Marijke N. Zonneveld, Moin Mohamed, Karsten Boldt, Ronald Roepman, Heleen H. Arts, Irene H. Maumenee, Kerstin Nagel-Wolfrum, Irma Lopez, Hussain Jafri, Yasmin Rashid, Monika Beer, Ilse Gosens, Anneke I. den Hollander, Katherine V. Towns, Kelly Springell, Robert K. Koenekoop
المصدر: Nature Genetics, 39, 7, pp. 889-95
Nature Genetics, 39, 889-95مصطلحات موضوعية: Male, Candidate gene, Genetics and epigenetic pathways of disease [NCMLS 6], genetic structures, Molecular Sequence Data, Optic Atrophy, Hereditary, Leber, Neuroinformatics [DCN 3], Biology, medicine.disease_cause, Ciliopathies, Joubert syndrome, Cell Line, Frameshift mutation, Genomic disorders and inherited multi-system disorders [IGMD 3], Mice, Translational research [ONCOL 3], Chlorocebus aethiops, Perception and Action [DCN 1], Genetics, medicine, Neurosensory disorders [UMCN 3.3], Animals, Humans, Cilia, Rats, Wistar, Eye Proteins, Frameshift Mutation, Renal disorder [IGMD 9], Mutation, Cilium, Disease gene identification, medicine.disease, Phenotype, eye diseases, Pedigree, Rats, Mice, Inbred C57BL, Genetic defects of metabolism [UMCN 5.1], Codon, Nonsense, COS Cells, Female, sense organs, Functional Neurogenomics [DCN 2], Microtubule-Associated Proteins
وصف الملف: application/pdf
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المؤلفون: Tina Märker, Theo A. Peters, Simone Dusseljee, Ingrid M. Punte, Henk A. Spierenburg, Ronald Roepman, Elmar Krieger, Ferry F.J. Kersten, Bert van der Zwaag, Hannie Kremer, Uwe Wolfrum, Stef J.F. Letteboer, Frans P.M. Cremers, Ilse Gosens, Erwin van Wijk
المصدر: Human Molecular Genetics, 16, 1993-2003
Human Molecular Genetics, 16, 16, pp. 1993-2003مصطلحات موضوعية: Scaffold protein, animal structures, Genetics and epigenetic pathways of disease [NCMLS 6], Bioinformatics, PDZ domain, Molecular Sequence Data, Mice, Transgenic, Nerve Tissue Proteins, Neuroinformatics [DCN 3], Models, Biological, Retina, Mice, Two-Hybrid System Techniques, Cell polarity, Perception and Action [DCN 1], Genetics, Neurosensory disorders [UMCN 3.3], Basal body, Animals, Humans, Amino Acid Sequence, Rats, Wistar, Eye Proteins, Molecular Biology, Zebrafish, Genetics (clinical), Actin, Renal disorder [IGMD 9], Extracellular Matrix Proteins, Binding Sites, biology, Models, Genetic, Cell Membrane, Membrane Proteins, General Medicine, Blood Proteins, biology.organism_classification, Embryo, Mammalian, Cell biology, Protein Structure, Tertiary, Rats, Genetic defects of metabolism [UMCN 5.1], Eye disorder, sense organs, Cellular energy metabolism [UMCN 5.3], Nucleoside-Phosphate Kinase, Functional Neurogenomics [DCN 2], Neural development
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b9da5abfcb69acd6ccb1eaef5bba54f
https://doi.org/10.1093/hmg/ddm147 -
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المؤلفون: Patrick G.J.F. Starremans, Lambertus P. van den Heuvel, Nine V A M Knoers, René J. M. Bindels, Ferry F.J. Kersten
المصدر: Journal of the American Society of Nephrology, 14, 1419-26
Journal of the American Society of Nephrology, 14, 6, pp. 1419-26مصطلحات موضوعية: medicine.medical_specialty, Glycoside Hydrolases, Sodium-Potassium-Chloride Symporters, Mutant, Immunoblotting, Xenopus, Molecular Conformation, Bartter syndrome, Xenopus laevis, Renal tubular dysfunction, Mutant protein, Internal medicine, medicine, Animals, Humans, Ion transporter, Bumetanide, Solute Carrier Family 12, Member 1, biology, Reabsorption, Sodium, Bartter Syndrome, General Medicine, medicine.disease, biology.organism_classification, Immunohistochemistry, Renal disorders [UMCN 5.4], Endocrinology, Genetic defects of metabolism [UMCN 5.1], Nephrology, Mutation, Oocytes, Cellular energy metabolism [UMCN 5.3], Cotransporter, Protein Processing, Post-Translational
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa26a5e830f7e160e869d1e759b1ecf6
https://doi.org/10.1097/01.asn.0000064948.39199.a0 -
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المؤلفون: Heiko Traupe, Hans Christian Hennies, Ferry F.J. Kersten, Vinzenz Oji, Patrick A. M. Jansen, Ivonne M.J.J. van Vlijmen-Willems, Joost Schalkwijk, Corien Oostendorp, Patrick L.J.M. Zeeuwen, Ellen H. van den Bogaard
المصدر: Experimental Dermatology 21 (2012) 11
Experimental Dermatology, 21(11), 889-891
Experimental Dermatology, 21, 11, pp. 889-91
Experimental Dermatology, 21, 889-91مصطلحات موضوعية: Human skin, Dermatology, Biology, Biochemistry, Models, Biological, Auto-immunity, transplantation and immunotherapy [N4i 4], Small hairpin RNA, Congenital ichthyosis, medicine, Morphogenesis, Humans, RNA, Small Interfering, Molecular Biology, Cells, Cultured, Cell Proliferation, Skin, Artificial, Gene knockdown, Human skin equivalents, Epidermis (botany), Tissue Scaffolds, Ichthyosis, Cystatin M, Lentivirus, Pathogenesis and modulation of inflammation Infection and autoimmunity [N4i 1], medicine.disease, Tissue engineering and pathology [NCMLS 3], Phenotype, Molecular biology, Pathogenesis and modulation of inflammation [N4i 1], Epidermal Cells, Protease inhibitor, Gene Knockdown Techniques, Epidermis, Short hairpin RNA, Infection and autoimmunity [NCMLS 1]
وصف الملف: text/html; application/octet-stream; application/pdf
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المؤلفون: Ronald Roepman, Uwe Wolfrum, Lisette Hetterschijt, Mariam G Aslanyan, Erwin van Wijk, Bert van der Zwaag, Jan E.E. Keunen, Hannie Kremer, Theo A. Peters, Ferry F.J. Kersten, Katharina Bauβ
المصدر: Cilia, 1, 12-12
Cilia, 1, 2, pp. 12-12
Cilia
Cilia, Vol 1, Iss 1, p 2 (2012)
Cilia; Vol 1مصطلحات موضوعية: Retinal degeneration, Genetics and epigenetic pathways of disease [NCMLS 6], Usher syndrome, Biology, Photoreceptor cell, 03 medical and health sciences, 0302 clinical medicine, Microtubule, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Retinitis pigmentosa, medicine, otorhinolaryngologic diseases, Basal body, lcsh:QH573-671, Ganglion cell layer, 030304 developmental biology, Genetics, 0303 health sciences, Retina, lcsh:Cytology, Research, Pathogenesis and modulation of inflammation Infection and autoimmunity [N4i 1], Cell Biology, medicine.disease, Genetics and epigenetic pathways of disease Plasticity and memory [NCMLS 6], eye diseases, Cell biology, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], medicine.anatomical_structure, 030220 oncology & carcinogenesis, sense organs
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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86c376da673affab7db8b6e7c8766395
http://hdl.handle.net/2066/109883
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