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المؤلفون: Alina A. Zubcov, Michael C. Brodsky, N. Sarvananthan, Rajiv D. Machado, M. Koch, Richard W. Hertle, Robert D. Reinecke, S. Thomas, Randy J. Read, Claire Stevens, Geoffrey Woodruff, Richard C. Trembath, Sarah O’Meara, Sarah Edkins, Michael R. Stratton, Jon W. Teague, M. Awan, F. Lucy Raymond, Adrian Parker, Steven Lisgo, Ioannis Asproudis, Andrea Langmann, Colin Veal, Richard Wooster, Chris Degg, E.O. Roberts, Susanne Lindner, M. Surendran, S. L. Jain, Cris S. Constantinescu, Christopher J. Talbot, Christina Pieh, Irene Gottlob, Patrick S. Tarpey, Richard P. Gale, Rebecca J. McLean, P. Andrew Futreal, Konstantinos Droutsas, David G. Hunter, Oliver C. Backhouse, L Baumber, Uma Mallya
المصدر: Nature Genetics. 38:1242-1244
مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Nystagmus, Congenital/*genetics, Brain/embryology/metabolism, genetic structures, Genetic Linkage, Eye disease, Eye Movements/genetics/physiology, Genes, X-Linked, Cytoskeletal Proteins/*genetics/physiology, Nystagmus, Biology, Membrane Proteins/*genetics/physiology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Genetic linkage, Internal medicine, Genetics, medicine, Humans, Mutation/physiology, X chromosome, 030304 developmental biology, Chromosomes, Human, X, Retina/metabolism, 0303 health sciences, Retina, Mutation, Chromosome Mapping, Gene Expression Regulation, Developmental, Eye movement, medicine.disease, eye diseases, Pedigree, medicine.anatomical_structure, Endocrinology, 030221 ophthalmology & optometry, Female, medicine.symptom, Congenital nystagmus
وصف الملف: application/pdf
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المؤلفون: M. L. Baumber
المصدر: The Mariner's Mirror. 82:398-408
مصطلحات موضوعية: History, Politics, Law, Political science, Public administration, Oceanography
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المؤلفون: Kirsten Timms, Victor Abkevic, Richard C. Trembath, Paola Di Meglio, Natalie J. Prescott, Alexander Gutin, Jonathan Barker, Frank O. Nestle, A. David Burden, Jerry S. Lanchbury, Christina Dunster, Francesca Capon, Joanna Szaub, L Baumber
المصدر: Human genetics. 122(2)
مصطلحات موضوعية: Interleukin-23 receptor, Adult, Male, Genotype, Molecular Sequence Data, Single-nucleotide polymorphism, Major histocompatibility complex, Genetic analysis, Polymorphism, Single Nucleotide, Genetic variation, Genetics, Interleukin 23, Humans, Psoriasis, Genetic Predisposition to Disease, Allele, Interleukin 12 receptor, beta 1 subunit, Genetics (clinical), Aged, Aged, 80 and over, biology, Base Sequence, Interleukin-12 Subunit p40, Receptors, Interleukin, Sequence Analysis, DNA, Middle Aged, Haplotypes, Immunology, biology.protein, Female
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المؤلفون: H. Harty, M. Leone, Richard C. Trembath, Christina Sjöstrand, L Baumber, Jan Hillert, Gennaro Bussone, Michael Bjørn Russell
المصدر: Neurology. 66(12)
مصطلحات موضوعية: Proband, Adult, Male, Receptors, Neuropeptide, Candidate gene, Adolescent, DNA Mutational Analysis, Cluster Headache, Biology, Risk Assessment, Receptors, G-Protein-Coupled, Cohort Studies, Orexin Receptors, Risk Factors, Genotype, Prevalence, Humans, Genetic Predisposition to Disease, Genetic Testing, Child, Genetic association, Aged, Genetics, Genetic heterogeneity, Chromosome Mapping, Genetic Variation, Middle Aged, Europe, Child, Preschool, Microsatellite, Female, Neurology (clinical), Candidate Gene Analysis, Genetic screen
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb51d52674b72ed04525bdf49535e8a7
https://pubmed.ncbi.nlm.nih.gov/16801656 -
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المؤلفون: Cristina Tufarelli, L Baumber, P King, Richard C. Trembath, Colin A. Johnson, Eamonn R. Maher, S Patel
المصدر: Journal of medical genetics. 42(5)
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, Hypoparathyroidism, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Parathyroid hormone, Genes, Recessive, Consanguinity, Biology, Internal medicine, Genetics, medicine, Missense mutation, Humans, Hypocalcaemia, Amino Acid Sequence, Gene, Genetics (clinical), Binding Sites, Familial isolated hypoparathyroidism, Neuropeptides, Nuclear Proteins, medicine.disease, Pedigree, DNA-Binding Proteins, Endocrinology, Calcium-sensing receptor, hormones, hormone substitutes, and hormone antagonists, Letter to JMG, Transcription Factors
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المؤلفون: Richard C. Trembath, L Baumber, K Goh, Edward C. Schwalbe, Alison Hill, W Karwatowski, Micheala A. Aldred
المصدر: Human genetics. 115(5)
مصطلحات موضوعية: Proband, Adult, Male, medicine.medical_specialty, genetic structures, Open angle glaucoma, Population, DNA Mutational Analysis, Ocular hypertension, Glaucoma, Biology, Ophthalmology, Internal medicine, Genetics, medicine, Prevalence, Humans, Genetic Predisposition to Disease, Genetic Testing, Risk factor, Family history, education, Eye Proteins, Genetics (clinical), Myocilin, Genetic testing, Aged, Glycoproteins, Family Health, education.field_of_study, medicine.diagnostic_test, business.industry, Case-control study, Middle Aged, medicine.disease, eye diseases, United Kingdom, Cytoskeletal Proteins, Case-Control Studies, Mutation, Female, sense organs, business, Glaucoma, Open-Angle
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المؤلفون: K Aminu, CG Woods, RF Mueller, Saghira Malik Sharif, Colin A. Johnson, Neil V. Morgan, L Baumber, Eamonn R. Maher, Deirdre Kelly, Christopher P. Bennett, Paul Gissen, Richard C. Trembath, J Sutherland
المصدر: Human genetics. 111(4-5)
مصطلحات موضوعية: Male, Candidate gene, Genetic Linkage, Population, Locus (genetics), Genes, Recessive, Biology, Gene mapping, Locus heterogeneity, Genetics, medicine, Humans, Abnormalities, Multiple, Neural Tube Defects, Allele, education, Meckel syndrome, Genetics (clinical), education.field_of_study, Polydactyly, Chromosome Mapping, Membrane Proteins, Proteins, Syndrome, medicine.disease, Pedigree, Female, Chromosomes, Human, Pair 8
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المؤلفون: Michael R. Stratton, Ioannis Asproudis, Jon W. Teague, Claire Stevens, M. Awan, Geoffrey Woodruff, E.O. Roberts, Sarah Edkins, Steven Lisgo, Chris Degg, Konstantinos Droutsas, David G. Hunter, S. Thomas, Irene Gottlob, Susanne Lindner, Michael C. Brodsky, Christina Pieh, N. Sarvananthan, Adrian G. Parker, Richard C. Trembath, F. Lucy Raymond, Sarah O’Meara, Andrea Langmann, Randy J. Read, Richard W. Hertle, S. L. Jain, Robert D. Reinecke, Colin Veal, M. Surendran, P. Andrew Futreal, Rebecca J. McLean, M. Koch, Alina A. Zubcov, Oliver C. Backhouse, Christopher J. Talbot, Richard P. Gale, Richard Wooster, Cris S. Constantinescu, Rajiv D. Machado, Uma Mallya, Patrick S. Tarpey, L Baumber
المصدر: Nature Genetics. 43:720-720
مصطلحات موضوعية: Genetics, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Biology, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Congenital nystagmus
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المؤلفون: M. L. Baumber
المصدر: The Mariner's Mirror. 75:255-268
مصطلحات موضوعية: History, Navy, Spanish Civil War, Civil defense, Political science, Law, Asymmetric warfare, Oceanography, Maritime history
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المؤلفون: M. L. Baumber
المصدر: The Mariner's Mirror. 52:233-246
مصطلحات موضوعية: History, media_common.quotation_subject, Art, Ancient history, Oceanography, Whetstone, Nephew and niece, media_common