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1
المؤلفون: Dawn S. Milliner, Choni Rinat, Daniella Magen, Eric Seboun, Sofia Feinstein, Efrat Ben-Shalom, Celine Charon, Irith Weissman, Ruth Belostotsky, Carla G. Monico, Yaacov Frishberg, Rachel Becker-Cohen, Gregory H. Idelson
المصدر: The American Journal of Human Genetics. 87:392-399
مصطلحات موضوعية: Male, DNA Mutational Analysis, 030232 urology & nephrology, medicine.disease_cause, Compound heterozygosity, Gastroenterology, Primary hyperoxaluria, Loss of heterozygosity, 0302 clinical medicine, Missense mutation, Genetics(clinical), Child, Genetics (clinical), Genetics, Oxalates, 0303 health sciences, Mutation, Oxo-Acid-Lyases, Pedigree, 3. Good health, Hydroxyproline, Child, Preschool, Female, Metabolic Networks and Pathways, SNP array, medicine.medical_specialty, Urology, Molecular Sequence Data, Biology, 03 medical and health sciences, Report, Internal medicine, medicine, Humans, Family, Amino Acid Sequence, Alleles, Glyoxylate reductase, 030304 developmental biology, Base Sequence, business.industry, Haplotype, Infant, Newborn, Infant, Proteins, medicine.disease, Jews, Hyperoxaluria, Primary, Primary Hyperoxaluria Type III, business
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2
المؤلفون: Eric Seboun, Charles E. Jackson, Arnaud Lemainque
المصدر: American Journal of Medical Genetics Part A. :290-294
مصطلحات موضوعية: Male, Consanguinity, Biology, Short stature, Gene mapping, Genetic linkage, Ethnicity, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Growth Disorders, Genetics (clinical), Family Health, Linkage (software), Brittle hair, Gene map, Haplotype, Chromosome Mapping, Syndrome, Pedigree, Haplotypes, Infertility, Female, Lod Score, medicine.symptom, Chromosomes, Human, Pair 7, Hair, Microsatellite Repeats
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3
المؤلفون: Jonathan L. Haines, Jackie B. Rimmler, O. Boesplug-Tanguy, Margaret A. Pericak-Vance, A. Dautigny, Melissa E. Garcia, Sabine Fauré, C. Gartioux, Cécile Fizames, Florence Ribierre, Robin R. Lincoln, R. Carsique, Stephen L. Hauser, Antony Rombos, Jorge R. Oksenberg, Eric Seboun, R. Fitoussi, Cecile Reyes, D. Pham-Dinh, Koishiro Usuku, Gabor Gyapay, Donald E. Goodkin, Jean Weissenbach, Michael Wong
المصدر: neurogenetics. 2:155-162
مصطلحات موضوعية: Genetic Markers, Multiple Sclerosis, Proteolipid protein 1, Genotype, Genetic Linkage, Population, GPI-Linked Proteins, White People, Myelin oligodendrocyte glycoprotein, Cellular and Molecular Neuroscience, Myelin, Genetic linkage, Genetics, Demyelinating disease, medicine, Humans, Myelin Proteolipid Protein, education, Genetics (clinical), DNA Primers, Family Health, education.field_of_study, biology, Myelin Basic Protein, medicine.disease, Myelin basic protein, Myelin-Associated Glycoprotein, Oligodendrocyte-Myelin Glycoprotein, medicine.anatomical_structure, nervous system, biology.protein, Myelin-Oligodendrocyte Glycoprotein, Myelin Proteins
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4
المؤلفون: Jacques S. Beckmann, Eric Seboun, Charles E. Jackson, Sean M. Garvey, Michael A. Hauser, Jan Senderek
المصدر: Annals of Human Genetics. 70:414-416
مصطلحات موضوعية: Genetics, Candidate gene, Pathology, medicine.medical_specialty, Cord, Single-nucleotide polymorphism, Biology, medicine.disease, medicine, Myotilin, medicine.symptom, Muscular dystrophy, Myopathy, Gene, Genetics (clinical), Southern blot
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5
المؤلفون: Stéphane Blanche, Patrick Revy, Jean-Laurent Casanova, Jean-François Emile, Melanie J. Newport, Eric Seboun, Alain Fischer, Michael Levin, Frédéric Altare, Emmanuelle Jouanguy, S Lamhamedi
المصدر: New England Journal of Medicine. 335:1956-1962
مصطلحات موضوعية: medicine.medical_treatment, complex mixtures, Fatal Outcome, Antigens, CD, Interferon-gamma receptor, Immunopathology, medicine, Humans, Tuberculosis, Interferon gamma, Frameshift Mutation, Receptors, Interferon, Mycobacterium bovis, Base Sequence, biology, business.industry, Infant, General Medicine, Immunotherapy, biology.organism_classification, Virology, Pedigree, Vaccination, Interferon gamma receptor 1, Immunology, BCG Vaccine, Female, business, BCG vaccine, medicine.drug
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6
المؤلفون: Eric Seboun
المصدر: Annales de l'Institut Pasteur / Actualités. 7:37-41
مصطلحات موضوعية: Immunopathology, General Medicine, Biology, Microbiology, Molecular biology
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7
المؤلفون: Robin Lincoln, Koichiro Usuku, Janardan P. Pandey, Stephen L. Hauser, Luca Massacesi, John S. Yu, Eric Seboun
المصدر: Journal of Neuroimmunology. 42:113-116
مصطلحات موضوعية: Male, Genetics, Multiple Sclerosis, Genes, Immunoglobulin, biology, Multiple sclerosis, Immunology, Immunogenetics, medicine.disease, Allotype, Nuclear Family, Neurology, medicine, biology.protein, Humans, Immunology and Allergy, Immunoglobulin heavy chain, Female, Neurology (clinical), Sibling, Restriction fragment length polymorphism, Antibody, Immunoglobulin Constant Regions, Immunoglobulin Heavy Chains, Gene
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8
المؤلفون: Michael A. Hauser, Carsten Bergmann, Claudia Stendel, M. Krieger, Eric Seboun, A Uritzberea, Velina Guergueltcheva, Peter Hedera, Andreas Roos, Howard Feit, Sabine Rudnik-Schöneborn, J. Tramonte, Sean M. Garvey, V. Mihailova, Charles E. Jackson, Jacques S. Beckmann, Hanns Lochmüller, Miriam Elbracht, I. Tournev, Jan Senderek, Joachim Weis, Klaus Zerres
المصدر: Aktuelle Neurologie. 36
مصطلحات موضوعية: Genetics, Vacuolar myopathy, Mutation (genetic algorithm), Neurology (clinical), Biology, Nuclear matrix
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ee2bd9bfb9a77b08e16afe935725f09c
https://doi.org/10.1055/s-0029-1238491 -
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المؤلفون: Joachim Weis, Klaus Zerres, Violeta Mihailova, Eric Seboun, Michael A. Hauser, Sabine Rudnik-Schöneborn, M. Krieger, Jan Senderek, Sean M. Garvey, Jacques S. Beckmann, Carsten Bergmann, Hanns Lochmüller, Miriam Elbracht, Andoni Urtizberea, Andreas Roos, Jeff Tramonte, Charles E. Jackson, Velina Guergueltcheva, Kristy Crooks, Howard Feit, Claudia Stendel, Peter Hedera, Ivailo Tournev
المصدر: American journal of human genetics. 84(4)
مصطلحات موضوعية: Adult, Male, Molecular Sequence Data, Mutation, Missense, Biology, Nuclear Matrix-Associated Proteins, Report, medicine, Genetics, Missense mutation, Humans, Genetics(clinical), Nuclear Matrix, Amino Acid Sequence, Nuclear protein, Age of Onset, Myopathy, Bulgaria, Muscle, Skeletal, Genetics (clinical), Genes, Dominant, Base Sequence, Sequence Homology, Amino Acid, Haplotype, Skeletal muscle, RNA-Binding Proteins, DNA, Syndrome, Middle Aged, Nuclear matrix, Dysphonia, Pedigree, Distal Myopathies, MATR3 Gene, medicine.anatomical_structure, Amino Acid Substitution, Female, medicine.symptom, Deglutition Disorders
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10
المؤلفون: Robert M. Sklar, Eric Seboun, T. Hayashi, John S. Yu, Teresa H. Doolittle, Stephen L. Hauser
المصدر: Journal of the Neurological Sciences. 103:209-215
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Multiple Sclerosis, In situ hybridization, Biology, Proto-Oncogene Mas, Lesion, White matter, Downregulation and upregulation, Proto-Oncogene Proteins, medicine, Humans, Northern blot, Brain, Nucleic Acid Hybridization, RNA, Blotting, Northern, DNA-Binding Proteins, medicine.anatomical_structure, Neurology, Neurology (clinical), medicine.symptom, Cell activation, Proto-Oncogene Proteins c-fos, Astrocyte