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المؤلفون: Abdelhak Bouharrou, A. Oulmaati, Sana Chaouki, Mark I. Rees, Mustapha Hida, Seo-Kyung Chung, F. Hmami, Sian-Elin Wood
المصدر: Epileptic Disorders. 16:354-357
مصطلحات موضوعية: Male, Reflex, Startle, Pediatrics, medicine.medical_specialty, Startle response, Neonatal intensive care unit, Mutation, Missense, Stiff-Person Syndrome, Receptors, Glycine, Muscle Hypertonia, medicine, Humans, Hyperekplexia, Sudden infant death, Asphyxia, medicine.diagnostic_test, business.industry, Infant, Newborn, General Medicine, Clonazepam, Neurology, Anesthesia, Mutation (genetic algorithm), Neurology (clinical), medicine.symptom, business, medicine.drug
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المؤلفون: Mark I. Rees, Sian-Elin Wood, C. L. Hammond, Rhys H. Thomas, Seo-Kyung Chung, Cheney Drew
مصطلحات موضوعية: Cross-Cultural Comparison, medicine.medical_specialty, Genotype, Turkish, Arabic, DNA Mutational Analysis, Ethnic group, Neurogenetics, Genes, Recessive, Stiff-Person Syndrome, Cohort Studies, Receptors, Glycine, Gene Frequency, medicine, Ethnicity, Inheritance Patterns, Humans, Point Mutation, Hyperekplexia, Psychiatry, Genes, Dominant, business.industry, Genetic Carrier Screening, Homozygote, Exons, language.human_language, Psychiatry and Mental health, Cohort, language, Surgery, Neurology (clinical), medicine.symptom, Chromosome Deletion, business, Demography
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65d946ffade1821da1d1ff34c761c586
https://cronfa.swan.ac.uk/Record/cronfa18094 -
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المؤلفون: Stephanie Matta, Jubran E. Rahme, Hanna Mandel, Emma Hobson, Zaid Afawi, Gail E. Graham, Amanda Krause, Anna Bode, Grace Vassallo, Sian-Elin Wood, Amira Masri, Samuel F. Berkovic, Sharon Aharoni, Orwain W. Howell, Cheney Drew, Vivek Jain, Alfred Peter Born, William O. Pickrell, Michael Freilinger, Jonathon G.L. Mullins, Elie G. Karam, Sue Chatfield, Jean-Francois Vanbellinghen, Gerald Bannasch, Marius Bartsch, Elizabeth Jones, Fusun Alehan, Thomas D. Cushion, Mark I. Rees, Joseph W. Lynch, Catherine Vincent-Delorme, Angelo Keramidas, Rhys H. Thomas, Seo-Kyung Chung, Bülent Kara
مصطلحات موضوعية: Male, Protein subunit, Mutation, Missense, Biology, Biochemistry, Protein Structure, Secondary, Receptors, Glycine, medicine, Humans, Hyperekplexia, Receptor, Molecular Biology, Glycine receptor, Ion channel, Genetics, Wild type, Molecular Bases of Disease, Cell Biology, Muscle Rigidity, Protein Structure, Tertiary, Amino Acid Substitution, Gene Expression Regulation, Female, medicine.symptom, Ion channel linked receptors, Cys-loop receptors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9d2d6fe988488fecbf57900d9ab98aa
https://europepmc.org/articles/PMC3837119/ -
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المؤلفون: Seo-Kyung Chung, Sian-Elin Wood, Mark I. Rees
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 85:e4.117-e4
مصطلحات موضوعية: Genetics, Direct sequencing, Disease, Biology, Psychiatry and Mental health, Recessive inheritance, medicine, Coding region, Surgery, Neurology (clinical), Hyperekplexia, medicine.symptom, Genetic diagnosis, Glycine receptor, Loss function
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المؤلفون: Seo-Kyung, Chung, Anna, Bode, Thomas D, Cushion, Rhys H, Thomas, Charlotte, Hunt, Sian-Elin, Wood, William O, Pickrell, Cheney J G, Drew, Sumimasa, Yamashita, Rita, Shiang, Steffen, Leiz, Ann-Carolyn, Longardt, Ann-Carolyn, Longhardt, Vera, Raile, Bernhard, Weschke, Ratna D, Puri, Ishwar C, Verma, Robert J, Harvey, Didi D, Ratnasinghe, Michael, Parker, Chris, Rittey, Amira, Masri, Lokesh, Lingappa, Owain W, Howell, Jean-François, Vanbellinghen, Jonathan G, Mullins, Joseph W, Lynch, Mark I, Rees
المصدر: Human Molecular Genetics. 22:2552-2552
مصطلحات موضوعية: Adult, Male, Adolescent, Protein Conformation, Molecular Sequence Data, Population, Biology, medicine.disease_cause, Glycine transporter, Structure-Activity Relationship, Exon, Receptors, Glycine, Glycine Plasma Membrane Transport Proteins, Muscle Hypertonia, medicine, Genetics, Humans, Missense mutation, Genetic Predisposition to Disease, Deletion mapping, Amino Acid Sequence, Hyperekplexia, Child, education, Glycine receptor, Molecular Biology, Genetics (clinical), Mutation, education.field_of_study, Epilepsy, Reflex, Abnormal, Homozygote, Genetic Diseases, X-Linked, General Medicine, Pedigree, Child, Preschool, Female, RNA Splice Sites, medicine.symptom
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f8bc834576699dfc2fe64665dff6ac3
https://doi.org/10.1093/hmg/ddt147