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المؤلفون: Ruth, Daniels, Wim, Van der Elst, Nele, Dieltjens, Tinne, Appels, Chi K, So, Thomas, Nys, Liesbeth, Voeten, Philip, Breugelmans, Marijke W A, Molenaar-de Backer, Eelo, Gitz, Stephen, Poole, Mehul, Patel
المصدر: ALTEX.
مصطلحات موضوعية: Endotoxins, Pharmacology, Medical Laboratory Technology, Pyrogens, Leukocytes, Mononuclear, Animals, Antibodies, Monoclonal, Rabbits, General Medicine, Animal Testing Alternatives, Monocytes
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb2285c90ce7a9670533d046a5cd1a1f
https://doi.org/10.14573/altex.2111301 -
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المؤلفون: Richard J.H. Smith, Alessandra Murgia, István Sziklai, Pierangela Castorina, Małgorzata Mueller-Malesińska, Nele Hilgert, Ewa Nowakowska, Graça Fialho, Alessandro Martini, Erdmute Kunstmann, Ignacio del Castillo, Lut Van Laer, Felipe Moreno, Doris Nekahm-Heis, Cyril Goizet, Carla Nishimura, Guy Van Camp, Elena Mennucci, Agata Skórka, Stephen Vlaeminck, Paul Van de Heyning, Mustafa Tekin, Michael B. Petersen, Ashley Q. Thorburn, Virginia W. Norris, Petr Janoušek, Anne Françoise Roux, Jerzy Bal, Nele Dieltjens, Guenaëlle Lancelot, Delphine Feldmann, Tímea Tóth, Pavel Seeman, Andreas R. Janecke, Eva Orzan, Jaroslaw Waligora, Karianne Hostmark, Matthew J. Huentelman, Klemens Frei, Ingeborg Dhooge, Catherine Blanchet, Paul J. Govaerts, Vasiliki Vivian Iliadou, Erik Fransen, Umberto Ambrosetti, Karen Grønskov, Agnieszka Pollak, Kathleen S. Arnos, Françoise Denoyelle, Paola Primignani, Armagan Incesulu, Ouyang Xiaomei, Rafał Płoski, Sandrine Marlin, Arti Pandya, Xue Zhong Liu, Helena Caria
المصدر: European journal of immunogenetics
مصطلحات موضوعية: Single-nucleotide polymorphism, Genome-wide association study, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Connexins, Article, 03 medical and health sciences, 0302 clinical medicine, Polymorphism (computer science), Genetic variation, Genotype, Genetics, medicine, Humans, Polymorphism, Hearing Loss, 030223 otorhinolaryngology, Gene, Genetics (clinical), 030304 developmental biology, Connexin 26, Genetic Variation, Genome-Wide Association Study, Homozygote, Mutation, Phenotype, 0303 health sciences, Single Nucleotide, Major gene
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المؤلفون: J. D. Favero, D. Goossens, Dominique Weil, Tao Yang, Barbara Pawlik, Sedigheh Delmaghani, Bernd Wollnik, Oya Uyguner, E. Pandelia, Nele Hilgert, Fatemeh Alasti, Richard J.H. Smith, Michael B. Petersen, G. Van Camp, Nele Dieltjens, E. Danis, Christine Petit, Mohammad Hossein Sanati
المصدر: Clinical genetics
مصطلحات موضوعية: Candidate gene, Genetic Linkage, Hearing loss, DNA Mutational Analysis, Gene Dosage, Locus (genetics), Deafness, Biology, Gene dosage, Article, Genetic linkage, otorhinolaryngologic diseases, Genetics, medicine, Humans, Family, Copy-number variation, Hearing Loss, Gene, Genetics (clinical), Membrane Proteins, Exons, medicine.disease, Mutation, Sensorineural hearing loss, Human medicine, medicine.symptom
وصف الملف: pdf
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المؤلفون: Kathleen Vanderstraeten, Emna Mnif, Melissa Thys, Insaf Bel Hadj Ali, Nele Dieltjens, Guy Van Camp, Saïda ben Arab, Ghazi Besbes, Najeh Beltaief, Isabelle Schrauwen, S. Hachicha
المصدر: American journal of medical genetics : part A
مصطلحات موضوعية: Adult, Male, Tunisia, Adolescent, Genotype, DNA Mutational Analysis, Locus (genetics), Biology, Collagen Type I, Genetic linkage, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetics (clinical), Aged, Family Health, Genetic heterogeneity, Chromosome Mapping, Middle Aged, medicine.disease, Penetrance, Pedigree, Conductive hearing loss, Collagen Type I, alpha 1 Chain, Otosclerosis, Chromosomes, Human, Pair 6, Female, Sensorineural hearing loss, Collagen, Lod Score, Carrier Proteins, Microsatellite Repeats
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المؤلفون: Ingeborg Dhooge, Thomas Somers, Robert Vincent, Wenjie Chen, Cor R W J Cremers, Mireille Claustres, Richard J.H. Smith, Frank Declau, Kathleen Vanderstraeten, Melissa Thys, Paul Van de Heyning, Isabelle Schrauwen, Megan Ealy, Guy Van Camp, Katrien Janssens, Erik Fransen, J. Claes, Erwin Offeciers, Kris Van Den Bogaert, Nele Dieltjens
المصدر: Human Molecular Genetics, 16, 17, pp. 2021-30
Human Molecular Genetics, 16, 2021-30
Human molecular geneticsمصطلحات موضوعية: Genotype, Population, Single-nucleotide polymorphism, Disease, Biology, Models, Biological, Polymorphism, Single Nucleotide, White People, Transforming Growth Factor beta1, Spectroscopy of Solids and Interfaces, Perception and Action [DCN 1], Genetics, medicine, Humans, Neurosensory disorders [UMCN 3.3], SNP, education, Molecular Biology, Genetics (clinical), education.field_of_study, Haplotype, Genetic Variation, Sequence Analysis, DNA, General Medicine, Odds ratio, medicine.disease, Genetics, Population, Otosclerosis, Phenotype, Amino Acid Substitution, Haplotypes, Genetic defects of metabolism [UMCN 5.1], Case-Control Studies, Multiple comparisons problem, Disease Susceptibility, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fd879cecf6a1126ce64ce48d878a15b
https://doi.org/10.1093/hmg/ddm150 -
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المؤلفون: Melissa Thys, Richard J.H. Smith, Maria Grigoriadou, Guy Van Camp, Michael B. Petersen, Nele Dieltjens, Robert J. Pauw, Cor R W J Cremers, Kris Van Den Bogaert, Vassiliki Iliadou, Isabelle Schrauwen, Wenjie Chen, Kathleen Vanderstraeten, Nikolaos Eleftheriades
المصدر: European Journal of Human Genetics, 15, 3, pp. 362-8
European Journal of Human Genetics, 15, 362-8
European journal of human geneticsمصطلحات موضوعية: Male, Locus (genetics), Biology, Gene mapping, Genetic linkage, Spectroscopy of Solids and Interfaces, Perception and Action [DCN 1], Genetics, medicine, Humans, Neurosensory disorders [UMCN 3.3], Allele, Genetics (clinical), Chromosome Mapping, Autosomal dominant trait, medicine.disease, Penetrance, Pedigree, Otosclerosis, Genetic defects of metabolism [UMCN 5.1], Genetic marker, Chromosomes, Human, Pair 6, Female, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
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المؤلفون: G. Van Camp, Nele Dieltjens, Richard J.H. Smith, Nele Hilgert, Hossein Najmabadi, Niloofar Bazazzadegan, Kimia Kahrizi
المصدر: Journal of medical genetics
مصطلحات موضوعية: Male, Hearing loss, Usher syndrome, DNA Mutational Analysis, Consanguinity, Biology, Iran, Article, Frameshift mutation, Receptors, G-Protein-Coupled, Retinitis pigmentosa, otorhinolaryngologic diseases, Genetics, medicine, Humans, Genetics (clinical), Family Health, Genetic heterogeneity, Haplotype, medicine.disease, Pedigree, Mutation testing, Female, Human medicine, medicine.symptom, Usher Syndromes, Gene Deletion
وصف الملف: pdf
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المؤلفون: Kathleen Vanderstraeten, Melissa Thys, Robert Vincent, Erik Fransen, Megan Ealy, P. Van de Heyning, Isabelle Schrauwen, G. Van Camp, E.E. Offeciers, Nele Dieltjens, Richard J.H. Smith, C.W.R.J. Cremers
المصدر: Annals of Human Genetics, 73, 171-5
Annals of Human Genetics, 73, 2, pp. 171-5
Annals of human geneticsمصطلحات موضوعية: Nonsynonymous substitution, Male, Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Mutation, Missense, Single-nucleotide polymorphism, Biology, Transforming Growth Factor beta1, Exon, Genetics, medicine, SNP, Missense mutation, Humans, Genetic Predisposition to Disease, Allele, Gene, Genetics (clinical), medicine.disease, Europe, Otosclerosis, Case-Control Studies, Female, Human medicine, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf; pdf
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المؤلفون: Nele Dieltjens, Kathleen Vanderstraeten, Emna Mnif, Saida Ben Arab, Nele Hilgert, Guy Van Camp, Isabelle Schrauwen, Ghazi Besbes, S. Hachicha, Melissa Thys, Najeh Beltaief, Insaf Bel Hadj Ali
المصدر: Human genetics
مصطلحات موضوعية: Adult, Genetic Markers, Male, Adolescent, Genotype, Genetic Linkage, Centromere, Locus (genetics), Chromosome 9, Biology, Genetic linkage, Short Tandem Repeat Polymorphism, Genetics, medicine, Humans, Genetics (clinical), Aged, Genes, Dominant, Polymorphism, Genetic, Haplotype, Autosomal dominant trait, Chromosome Mapping, Middle Aged, medicine.disease, Penetrance, Pedigree, Otosclerosis, Haplotypes, Tandem Repeat Sequences, Female, Lod Score, Chromosomes, Human, Pair 9
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المؤلفون: Robert Vincent, Melissa Thys, Kathleen Vanderstraeten, Megan Ealy, Frank Declau, Guy Van Camp, Erik Fransen, Cor R W J Cremers, Erwin Offeciers, Isabelle Schrauwen, Jeroen R. Huyghe, Mireille Claustres, Paul Van de Heyning, Thomas Somers, Richard J.H. Smith, Ingeborg Dhooge, Nele Dieltjens
المصدر: Journal of bone and mineral research
مصطلحات موضوعية: Male, Candidate gene, animal structures, Endocrinology, Diabetes and Metabolism, Bone Morphogenetic Protein 2, Single-nucleotide polymorphism, Bone Morphogenetic Protein 4, Biology, Polymorphism, Single Nucleotide, Polymorphism (computer science), Transforming Growth Factor beta, medicine, SNP, Humans, Orthopedics and Sports Medicine, Allele, Hearing Loss, Genetics, Case-control study, Original Articles, medicine.disease, Penetrance, Otosclerosis, Case-Control Studies, embryonic structures, Bone Morphogenetic Proteins, Female