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1دورية أكاديمية
المؤلفون: Louis Viollet, Gustavo Glusman, Kelley J Murphy, Tara M Newcomb, Sandra P Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L Barbano, Candida Brown, Mary E Brunkow, Harry T Chugani, Sarah R Cheyette, Abigail Collins, Suzanne D DeBrosse, David Galas, Jennifer Friedman, Lee Hood, Chad Huff, Lynn B Jorde, Mary D King, Bernie LaSalle, Richard J Leventer, Aga J Lewelt, Mylynda B Massart, Mario R Mérida, Louis J Ptáček, Jared C Roach, Robert S Rust, Francis Renault, Terry D Sanger, Marcio A Sotero de Menezes, Rachel Tennyson, Peter Uldall, Yue Zhang, Mary Zupanc, Winnie Xin, Kenneth Silver, Kathryn J Swoboda
المصدر: PLoS ONE, Vol 10, Iss 8, p e0137370 (2015)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Louis Viollet, Gustavo Glusman, Kelley J Murphy, Tara M Newcomb, Sandra P Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L Barbano, Candida Brown, Mary E Brunkow, Harry T Chugani, Sarah R Cheyette, Abigail Collins, Suzanne D DeBrosse, David Galas, Jennifer Friedman, Lee Hood, Chad Huff, Lynn B Jorde, Mary D King, Bernie LaSalle, Richard J Leventer, Aga J Lewelt, Mylynda B Massart, Mario R Mérida, Louis J Ptáček, Jared C Roach, Robert S Rust, Francis Renault, Terry D Sanger, Marcio A Sotero de Menezes, Rachel Tennyson, Peter Uldall, Yue Zhang, Mary Zupanc, Winnie Xin, Kenneth Silver, Kathryn J Swoboda
المصدر: PLoS ONE, Vol 10, Iss 5, p e0127045 (2015)
وصف الملف: electronic resource
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3
المؤلفون: Benjamin N.R. Cheyette, Sarah R. Cheyette
المصدر: Clinical journal of gastroenterology, vol 9, iss 6
مصطلحات موضوعية: Oral, Diarrhea, Male, medicine.medical_specialty, Exacerbation, Food trigger, Administration, Oral, Context (language use), Zolmitriptan, Diagnosis, Differential, Irritable Bowel Syndrome, 03 medical and health sciences, 0302 clinical medicine, Gastrointestinal Agents, Internal medicine, Diagnosis, Morning rush, medicine, Humans, Irritable bowel syndrome, Gastrointestinal agent, business.industry, digestive, oral, and skin physiology, Gastroenterology, General Medicine, Middle Aged, medicine.disease, Pharmacotherapy, Tryptamines, Triptan, Migraine, Anesthesia, Differential, Administration, Acute Disease, 030211 gastroenterology & hepatology, medicine.symptom, Headaches, business, Relief, 030217 neurology & neurosurgery, medicine.drug
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المؤلفون: Juliet Chhay Bishop, Jacqueline G. Lu, Sarah R. Cheyette, Igor B. Zhulin, Nara Sobreira, Su Guo, Steven E. Brenner
المصدر: Molecular Case Studies. 4:a002287
مصطلحات موضوعية: 0301 basic medicine, Proband, Genetics, Sanger sequencing, Ataxia, Movement disorders, General Medicine, Neurological disorder, Biology, Paroxysmal dyskinesia, medicine.disease, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, 0302 clinical medicine, medicine, symbols, medicine.symptom, Gene, 030217 neurology & neurosurgery, PRRT2
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ebd6f5714a2ae37927507a3b3ee8c45c
https://doi.org/10.1101/mcs.a002287 -
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المؤلفون: Lee Hood, Eva Andermann, Mario R. Mérida, Bernie LaSalle, Yue Zhang, Terry D. Sanger, Harry T. Chugani, Mylynda Massart, Lynn B. Jorde, Mary E. Brunkow, Mary L. Zupanc, Gyula Acsadi, Abigail Collins, Richard L. Barbano, Mary D. King, Suzanne D. DeBrosse, Rachel B. Tennyson, Sandra P. Reyna, Frederick Andermann, Winnie Xin, Peter Uldall, Sarah R. Cheyette, Aga J. Lewelt, Francis Renault, Louis Viollet, Matthew T. Sweney, Gustavo Glusman, Kenneth Silver, Kelley J. Murphy, Chad D. Huff, Kathryn J. Swoboda, Tara M. Newcomb, Marcio A Sotero de Menezes, Robert S. Rust, Benjamin W. Nelson, Candida Brown, Jared C. Roach, Jennifer F. Friedman, Richard J. Leventer, Louis J. Ptáček, David J. Galas
المصدر: PLoS ONE
PloS one, vol 10, iss 8
PLoS ONE, Vol 10, Iss 8, p e0137370 (2015)مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, General Science & Technology, DNA Mutational Analysis, lcsh:Medicine, Hemiplegia, Cohort Studies, MD Multidisciplinary, medicine, Humans, Registries, lcsh:Science, Child, Genotype-Phenotype Correlations, Genetic Association Studies, Multidisciplinary, business.industry, Alternating hemiplegia of childhood, lcsh:R, Correction, Infant, medicine.disease, Child, Preschool, lcsh:Q, Female, Sodium-Potassium-Exchanging ATPase, business
وصف الملف: application/pdf
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6
المؤلفون: Tara M. Newcomb, Mario R. Mérida, Mary E. Brunkow, Sandra P. Reyna, Louis Viollet, Matthew T. Sweney, Lee Hood, Peter Uldall, Jennifer Friedman, Gyula Acsadi, Francis Renault, Kelley J. Murphy, Bernie LaSalle, Sarah R. Cheyette, Chad D. Huff, Frederick Andermann, Mylynda Massart, Lynn B. Jorde, Kenneth Silver, Robert S. Rust, Terry D. Sanger, Marcio A Sotero de Menezes, David J. Galas, Rachel B. Tennyson, Gustavo Glusman, Louis J. Ptáček, Kathryn J. Swoboda, Abigail Collins, Eva Andermann, Candida Brown, Jared C. Roach, Mary D. King, Winnie Xin, Harry T. Chugani, Benjamin W. Nelson, Mary L. Zupanc, Richard J. Leventer, Yue Zhang, Suzanne D. DeBrosse, Aga J. Lewelt, Richard L. Barbano
المصدر: PLoS ONE
PLoS ONE, Vol 10, Iss 5, p e0127045 (2015)مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, lcsh:Medicine, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, ATP1A3, medicine, Missense mutation, lcsh:Science, 030304 developmental biology, 0303 health sciences, Mutation, Multidisciplinary, business.industry, Alternating hemiplegia of childhood, lcsh:R, medicine.disease, Human genetics, 3. Good health, Cohort, lcsh:Q, Age of onset, business, 030217 neurology & neurosurgery, Cohort study, Research Article
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المصدر: Pediatric and Developmental Pathology. 5:54-68
مصطلحات موضوعية: Male, Cerebellum, Nerve Tissue Proteins, Biology, Nervous System Malformations, Metencephalon, Pathology and Forensic Medicine, Midbrain, 03 medical and health sciences, Fatal Outcome, 0302 clinical medicine, Mesencephalon, medicine, Humans, Homeodomain Proteins, Genes, Homeobox, Infant, Newborn, Brain, General Medicine, Anatomy, medicine.disease, Spinal cord, Magnetic Resonance Imaging, Pons, medicine.anatomical_structure, nervous system, 030220 oncology & carcinogenesis, Cerebellar cortex, Mutation, Pediatrics, Perinatology and Child Health, Cerebellar hypoplasia (non-human), Brainstem, 030217 neurology & neurosurgery
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المصدر: Epilepsia. 41:862-867
مصطلحات موضوعية: Male, Tic disorder, medicine.medical_specialty, Pediatrics, Tics, Dopamine, Glutamine, Models, Neurological, Population, Neocortex, Comorbidity, Neurological disorder, Lamotrigine, Tourette syndrome, Basal Ganglia, Central nervous system disease, Epilepsy, mental disorders, medicine, Humans, Language Development Disorders, Child, Psychiatry, education, Retrospective Studies, education.field_of_study, Triazines, Age Factors, Videotape Recording, Electroencephalography, medicine.disease, nervous system diseases, Neurology, Attention Deficit Disorder with Hyperactivity, Child, Preschool, Anticonvulsants, Female, Neurology (clinical), Psychology
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المصدر: Pediatric Neurology. 38:273-275
مصطلحات موضوعية: Male, medicine.medical_specialty, Disease, Bioinformatics, medicine.disease_cause, Levodopa, Developmental Neuroscience, Dopamine, Internal medicine, medicine, Humans, Toddler, Allele, GTP Cyclohydrolase, Gait Disorders, Neurologic, Dystonia, Mutation, business.industry, Carbidopa, medicine.disease, Gait, Penetrance, Pedigree, nervous system diseases, Drug Combinations, Endocrinology, Neurology, Dystonic Disorders, Child, Preschool, Dopamine Agonists, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, medicine.drug
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