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1
المؤلفون: Giuseppe LaFauci, Eran Bram, W. T. Brown, Elizabeth Berry-Kravis, Tatyana Adayev, Carl Dobkin, E. Mark Mahone, Dejan B. Budimirovic, Dragana D Protic, Kristen Culp, Kimberly Nicholson, Gary J. Latham, Kevin Sharp, Stela Filipovic-Sadic, Andrew Hadd, Walter E. Kaufmann, Kamyab Javanmardi, Jon Kemppainen, Annette Schlageter, Lili Zhou
المصدر: Brain Sciences, Vol 10, Iss 694, p 694 (2020)
Brain Sciences
Volume 10
Issue 10مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, endocrine system diseases, FMR1, autism spectrum disorder, Biology, Article, lcsh:RC321-571, 03 medical and health sciences, 0302 clinical medicine, medicine, fragile X syndrome, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, 030304 developmental biology, Genetics, 0303 health sciences, General Neuroscience, Genetic disorder, Methylation, medicine.disease, Phenotype, nervous system diseases, Fragile X syndrome, genomic DNA, PCR, Autism spectrum disorder, DNA methylation, FMRP, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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2
المؤلفون: H. Zou, Ashfaq M. Sheikh, Mazhar Malik, W. T. Brown, X. Li, K. Yang, G. Wen
المصدر: Genes, Brain and Behavior. 10:834-843
مصطلحات موضوعية: Cerebellum, MAPK3, Kinase, Biology, medicine.disease, Behavioral Neuroscience, Neurodevelopmental disorder, medicine.anatomical_structure, Neurology, Downregulation and upregulation, Genetics, medicine, Autism, Signal transduction, Protein kinase A, Neuroscience
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3
المؤلفون: Kathryn K. Chadman, X. Li, Ashfaq M. Sheikh, K. Yang, G. Wen, Mazhar Malik, Y. Yu, H. Zou, W. T. Brown
المصدر: Genes, Brain and Behavior. 10:615-624
مصطلحات موضوعية: Cerebellum, MAPK3, Kinase, medicine.disease, behavioral disciplines and activities, Pathogenesis, Behavioral Neuroscience, Neurodevelopmental disorder, medicine.anatomical_structure, Neurology, Downregulation and upregulation, Genetics, medicine, Phosphorylation, Autism, Psychology, Neuroscience
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4
المؤلفون: Abha Chauhan, W T Brown, Kulbir Kaur, Ved Chauhan, Feng Gu, Musthafa Mohamed Essa, Jerzy Wegiel
المصدر: Journal of Neurochemistry. 117:209-220
مصطلحات موضوعية: Temporal cortex, medicine.medical_specialty, Cerebellum, Case-control study, Mitochondrion, medicine.disease, medicine.disease_cause, Biochemistry, Group A, Cellular and Molecular Neuroscience, Endocrinology, medicine.anatomical_structure, Internal medicine, medicine, Autism, Young adult, Psychology, Neuroscience, Oxidative stress
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5Academic Journal
المؤلفون: GALLI, MANUELA, CIMOLIN, VERONICA, D. Ferrario, P. Patti, R. Freedland, M. Gavin, M. T. Velinov, G. Heaney, W. T. Brown, G. Albertini
المساهمون: Galli, Manuela, D., Ferrario, P., Patti, R., Freedland, Cimolin, Veronica, M., Gavin, M. T., Velinov, G., Heaney, W. T., Brown, G., Albertini
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000301722400005; volume:24; firstpage:155; lastpage:165; journal:JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES; http://hdl.handle.net/11311/638927; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84858172655
الاتاحة: http://hdl.handle.net/11311/638927
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6
المؤلفون: S. M. Jazwinski, H. R. Warner, S. Helfand, M. Driscoll, D. A. Welsh, J. Faulkner, N. Barzilai, M. Breitenbach, R. McCarter, W. T. Brown, N. Greco, J. Mountz, S. J. Olshansky
المصدر: The Journals of Gerontology Series A: Biological Sciences and Medical Sciences. 60:1359-1365
مصطلحات موضوعية: Aging, Geriatrics and Gerontology
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7Academic Journal
المؤلفون: S Jiang, C Shen, J Zhong, N Zhong, M Flory, P Wang, X Tao, W T Brown, Mei Zhong, X Zhao, Yong Wang, Y Yu, Q Chen, Xiaoyan Dong, W Ju
المصدر: 10.1038/tp.2015.144 ; 26485544 ; oai:pubmedcentral.nih.gov:4930123 ; BFtp2015144 ; 1767499284 ; 10|openaire____::9e3be59865b2c1c335d32dae2fe7b254 ; openaire____::1256f046-bf1f-4afc-8b47-d0b147148b18 ; 10|openaire____::55045bd2a65019fd8e6741a755395c8c ; 10|opendoar____::eda80a3d5b344bc40f3bc04f65b7a357 ; 10|opendoar____::8b6dd7db9af49e67306feb59a8bdc52c ; 10|openaire____::081b82f96300b6a6e3d282bad31cb6e2 ; 10|doajarticles::55c591cd7491eb12cb76474ffa5ee51f ; 10|openaire____::8ac8380272269217cb09a928c8caa993 ; 10|openaire____::5f532a3fc4f1ea403f37070f59a7a53a
مصطلحات موضوعية: Original Article, envir, edu
Relation: http://www.nature.com/articles/tp2015144.pdf; https://www.nature.com/articles/tp2015144.pdf; https://dx.doi.org/10.1038/tp.2015.144; http://dx.doi.org/10.1038/tp.2015.144; http://europepmc.org/articles/PMC4930123; http://www.nature.com/articles/tp2015144; https://pubmed.ncbi.nlm.nih.gov/26485544/; https://www.nature.com/articles/tp2015144/; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930123; http://europepmc.org/abstract/MED/26485544; https://core.ac.uk/display/155713132; https://academic.microsoft.com/#/detail/1767499284
الاتاحة: http://www.nature.com/articles/tp2015144.pdf
https://www.nature.com/articles/tp2015144.pdf
https://doi.org/10.1038/tp.2015.144
http://europepmc.org/articles/PMC4930123
http://www.nature.com/articles/tp2015144
https://pubmed.ncbi.nlm.nih.gov/26485544/
https://www.nature.com/articles/tp2015144/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930123
http://europepmc.org/abstract/MED/26485544
https://core.ac.uk/display/155713132 -
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المؤلفون: Xudong Liu, Edmund C. Jenkins, Bradley N. White, Ira L. Cohen, W. T. Brown, J. J. A. Holden, Chris K. Schutz
المصدر: Clinical Genetics. 64:190-197
مصطلحات موضوعية: Genetics, biology, Intelligence quotient, business.industry, Genetic heterogeneity, medicine.disease, Genetic determinism, Developmental disorder, Genotype, biology.protein, Medicine, Autism, Monoamine oxidase A, Allele, business, Genetics (clinical)
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9
المؤلفون: P Parfrey, Dorota N. Moroziewicz, Rocksheng Zhong, N Zhong, W T Brown, J R Currie, W Ju, S Moore
المصدر: Journal of Medical Genetics. 39:822-825
مصطلحات موضوعية: Canada, medicine.medical_specialty, DNA Mutational Analysis, Population, Biology, medicine.disease_cause, Aminopeptidases, Genetic Heterogeneity, Neuronal Ceroid-Lipofuscinoses, Molecular genetics, Endopeptidases, Genetics, medicine, Humans, Missense mutation, Age of Onset, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, education, Alleles, Genetics (clinical), Family Health, Mutation, education.field_of_study, Polymorphism, Genetic, Tripeptidyl-Peptidase 1, Genetic heterogeneity, Point mutation, Infant, DNA, medicine.disease, Neuronal ceroid lipofuscinosis, Serine Proteases, Age of onset, Letter to JMG, Peptide Hydrolases
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10
المؤلفون: Thomas Wisniewski, Humi Imaki, W T Brown, Jarek Wegiel, Krzysztof Nowicki, Shuang Yong Ma, Eric London, Michael Flory, Jerzy Wegiel, Izabela Kuchna, Ira L. Cohen
المصدر: Acta Neuropathologica Communications
مصطلحات موضوعية: Adult, Male, Cerebellum, medicine.medical_specialty, Neurology, Adolescent, Number of neurons, Autism, Cell Count, Striatum, Amygdala, Pathology and Forensic Medicine, Stereotaxic Techniques, Young Adult, Cellular and Molecular Neuroscience, Region of interest, Diagnosis, medicine, Humans, Autistic Disorder, Child, 10. No inequality, Neurons, Volume, Research, Brain, Middle Aged, medicine.disease, Corpus Striatum, medicine.anatomical_structure, nervous system, Child, Preschool, Stereotaxic technique, Female, Neurology (clinical), Brainstem, Psychology, Neuroscience
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11
المؤلفون: D. Devenny, B. Canto, Edmund C. Jenkins, Nicole Schupf, Marilyn Genovese, D. Kapell, Ling Ling Ye, W. T. Brown, M. Harris, Joseph H. Lee
المصدر: American Journal of Medical Genetics. 68:147-151
مصطلحات موضوعية: Genetics, Down syndrome, Aneuploidy, Family aggregation, Physiology, Modal Chromosome Number, Biology, medicine.disease, Chromosome 17 (human), medicine, Chromosome 21, Trisomy, Genetics (clinical), X chromosome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5357aa01b431e42f36de957011cc1fcb
https://doi.org/10.1002/(sici)1096-8628(19970120)68:2<147::aid-ajmg5>3.0.co;2-m -
12
المؤلفون: Jerzy Wegiel, W. T. Brown
مصطلحات موضوعية: Postmortem studies, Autopsy, Biology, medicine.disease, Phenotype, medicine.anatomical_structure, nervous system, Gene duplication, medicine, Autism, Soma, Neuron, Neuroscience, Pathological
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13
المؤلفون: W. T. Brown, A. Logush, J. Messing, Milen Velinov, Edmund C. Jenkins, G. Y. Wen, S. Adelman, M. Gavin
المصدر: JIMD Reports ISBN: 9783642373275
مصطلحات موضوعية: medicine.medical_specialty, Batten disease, Cysteamine Bitartrate, biology, business.industry, PPT1, Neurological disorder, medicine.disease, Article, Endocrinology, Biochemistry, Internal medicine, Toxicity, medicine, biology.protein, Palmitoyl protein thioesterase, Neuronal ceroid lipofuscinosis, Substrate reduction therapy, business
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14
المؤلفون: Debra Skinner, Liane Abrams, Randi J Hagerman, Stephanie L. Sherman, Walter E. Kaufmann, Flora Tassone, Jonathan Picker, Elizabeth Berry-Kravis, Sarah M. Coffey, Robert L. Miller, W. T. Brown, Vanessa A. Johnson, Amy Cronister, Allyn McConkie-Rosell, Brenda Finucane
المصدر: Pediatrics. 130(6)
مصطلحات موضوعية: Male, DNA Mutational Analysis, Genetic Carrier Screening, Primary Ovarian Insufficiency, Polymerase Chain Reaction, Fragile X Mental Retardation Protein, Mice, Trinucleotide Repeats, Intellectual disability, Tremor, Medicine, Early childhood, Cooperative Behavior, Child, Referral and Consultation, Mice, Knockout, Fragile X syndrome, Child, Preschool, Female, medicine.symptom, Adult, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Ataxia, Adolescent, Neonatal Screening, Sex Factors, Animals, Humans, Genetic Predisposition to Disease, Allele, Autistic Disorder, Psychiatry, Alleles, Patient Care Team, Newborn screening, Models, Genetic, business.industry, Infant, Newborn, Infant, medicine.disease, FMR1, nervous system diseases, Early Diagnosis, Attention Deficit Disorder with Hyperactivity, Fragile X Syndrome, Pediatrics, Perinatology and Child Health, Interdisciplinary Communication, business
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15
المؤلفون: Manuela Galli, Glenn Heaney, Paul Patti, Giorgio Albertini, W. T. Brown, Robert Freedland, Davide L. Ferrario, Veronica Cimolin
المصدر: Journal of Intellectual Disability Research.
مصطلحات موضوعية: medicine.medical_specialty, Rehabilitation, Biomechanics, Kinematics, Trunk, Motor coordination, Developmental psychology, Psychiatry and Mental health, Physical medicine and rehabilitation, medicine.anatomical_structure, Neurology, Arts and Humanities (miscellaneous), medicine, Force platform, Neurology (clinical), Descent (aeronautics), Ankle, Psychology, Range of motion
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16
المؤلفون: M, Galli, V, Cimolin, D, Ferrario, P, Patti, G, Heaney, R, Freedland, G, Albertini, W T, Brown
المصدر: Journal of intellectual disability research : JIDR. 57(12)
مصطلحات موضوعية: Adult, Male, Leg, Middle Aged, Motor Activity, Toes, Spine, Biomechanical Phenomena, Intellectual Disability, Humans, Female, Heel, Down Syndrome, Range of Motion, Articular, Gait, Postural Balance, Ankle Joint, Psychomotor Performance
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17
المؤلفون: Manuela Galli, Giorgio Albertini, M. Gavin, Paul Patti, M. T. Velinov, W. T. Brown, Robert Freedland, Davide L. Ferrario, Glenn Heaney, Veronica Cimolin
المصدر: Politecnico di Milano-IRIS
مصطلحات موضوعية: Mutation, Pathology, medicine.medical_specialty, Batten disease, Physical Therapy, Sports Therapy and Rehabilitation, Gene mutation, medicine.disease_cause, medicine.disease, Gait, Phenotype, Lipofuscin, Gait analysis, Developmental and Educational Psychology, medicine, Juvenile, Psychology, Neuroscience
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18
المؤلفون: W. T. Brown, Carl Dobkin, Lingling Ye, Nan Zhong
المصدر: American Journal of Medical Genetics. 51:405-411
مصطلحات موضوعية: Male, Heterozygote, Linkage disequilibrium, Molecular Sequence Data, Disequilibrium, New York, DNA, Satellite, Biology, Linkage Disequilibrium, Loss of heterozygosity, Genetic Heterogeneity, Gene Frequency, medicine, Humans, Crossing Over, Genetic, Allele, Alleles, Genetics (clinical), DNA Primers, Repetitive Sequences, Nucleic Acid, Genetics, Molecular Epidemiology, Haplotype, Microsatellite instability, medicine.disease, Founder Effect, Fragile X syndrome, Haplotypes, Fragile X Syndrome, Mutation, Microsatellite, Female, medicine.symptom
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19
المؤلفون: C. S. Dobkin, Anne Glicksman, W. T. Brown, George E. Houck, Sarah L. Nolin
المصدر: American Journal of Medical Genetics. 51:509-512
مصطلحات موضوعية: Male, Fragile x, Gene Dosage, Biology, Methylation, Polymerase Chain Reaction, Deoxyribonuclease EcoRI, Restriction fragment, medicine, Humans, Deoxyribonucleases, Type II Site-Specific, Full mutation, Genetics (clinical), Repetitive Sequences, Nucleic Acid, Southern blot, Family Health, Genetics, Mosaicism, DNA, medicine.disease, Fragile X syndrome, Blotting, Southern, CpG site, Cgg repeat, Fragile X Syndrome, Mutation, Mutation (genetic algorithm), biology.protein, DNA Probes, Dinucleoside Phosphates
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المؤلفون: S. Youings, J. Tarrelton, Joanne Dixon, D. Broome, Stephanie L. Sherman, G. Filippi, Randi J Hagerman, G. S. Pai, J. L. Meyer, Karl-Henrik Gustavson, S. A. M. Taylor, E. C. Jenkins, A. P. T. Smits, Anne Maddalena, Lawrence R. Shapiro, Tessa Webb, M. Grasso, C. E. Schwartz, W. T. Brown, P A Jacobs, Sarah L. Nolin, Ingo Kennerknecht, Patricia N. Howard-Peebles, Francisco Martínez, A. J. Barnicoat, Patrick Ferreira, Louise W. Staley, Hazel Robinson, Gotthold Barbi, Peter Steinbach, B.A. van Oost, Athel Hockey
المصدر: American Journal of Medical Genetics. 51:503-506
مصطلحات موضوعية: Heterozygote, medicine.medical_specialty, Population, Gene Dosage, Gene Expression, Biology, Risk Assessment, law.invention, Predictive Value of Tests, Pregnancy, Recurrence, law, medicine, Humans, Prospective Studies, education, Prospective cohort study, Genetics (clinical), Repetitive Sequences, Nucleic Acid, Genetics, education.field_of_study, Obstetrics, Pregnancy Outcome, medicine.disease, Fragile X syndrome, Transmission (mechanics), Fragile X Syndrome, Mutation, Mutation (genetic algorithm), Gestation, Female, Sex ratio