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41
المؤلفون: Elie Harmouche, Minzhi Xing, Michael R. Terk, E I Parker, Andres Moreno-De-Luca
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Mucopolysaccharidosis I, Lyases, Review Article, Diagnosis, Differential, Mucopolysaccharidosis III, medicine, Humans, Radiology, Nuclear Medicine and imaging, Glucuronidase, Mucopolysaccharidosis II, Mucopolysaccharidosis VI, business.industry, Organ dysfunction, Mucopolysaccharidosis VII, Mucolipidoses, Mucopolysaccharidosis IV, General Medicine, medicine.disease, Lysosomal Storage Diseases, Radiological weapon, Cystinosis, medicine.symptom, Differential diagnosis, business, Metabolism, Inborn Errors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c3e0ecebdc1fed6f3550bc1b9fc4c52Test
https://europepmc.org/articles/PMC3898971Test/ -
42
المصدر: Behavioural brain research. 263
مصطلحات موضوعية: Male, Time Factors, Adolescent, media_common.quotation_subject, Population, Empathy, Neuropsychological Tests, behavioral disciplines and activities, Functional Laterality, Behavioral Neuroscience, Young Adult, Sex Factors, Social cognition, Face perception, Neural Pathways, medicine, Humans, education, media_common, education.field_of_study, Fusiform gyrus, medicine.diagnostic_test, Brain, Electroencephalography, medicine.disease, Magnetic Resonance Imaging, Temporal Lobe, Social Perception, Autism spectrum disorder, Face, Visual Perception, Evoked Potentials, Visual, Female, Occipital Lobe, Psychology, Functional magnetic resonance imaging, Photic Stimulation, Cognitive psychology, Social behavior
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78073720efbba9ebd45556b5eb13f52fTest
https://pubmed.ncbi.nlm.nih.gov/24462962Test -
43Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence
المؤلفون: David W. Evans, David H. Ledbetter, Daniel Moreno-De-Luca, Thomas D. Challman, Scott M. Myers, Andres Moreno-De-Luca
مصطلحات موضوعية: Proband, Genetics, Brain Diseases, Brain dysfunction, Healthy population, Developmental Disabilities, Phenotype, Penetrance, Article, Trait, Animals, Humans, Genetic Predisposition to Disease, Neurology (clinical), Copy-number variation, Autistic Disorder, Nervous System Diseases, Psychology, Brain function
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fef8ba9cffb8447b51d9253c848575b5Test
https://europepmc.org/articles/PMC4013791Test/ -
44
المؤلفون: Andrea J. Gonzalez-Mantilla, Christa Lese Martin, David H. Ledbetter, Andres Moreno-De-Luca
المصدر: JAMA Psychiatry. 73:275
مصطلحات موضوعية: 0301 basic medicine, Candidate gene, Bipolar Disorder, Developmental Disabilities, Neurogenetics, Genomics, Biology, Genome, Article, 03 medical and health sciences, Humans, Genetic Predisposition to Disease, Autistic Disorder, Alleles, Exome sequencing, Genetics, Brain Diseases, Genome, Human, Genetic heterogeneity, Phenotype, Psychiatry and Mental health, 030104 developmental biology, Attention Deficit Disorder with Hyperactivity, Candidate Disease Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c2c7c2decd73be1751a75baef4996a6Test
https://doi.org/10.1001/jamapsychiatry.2015.2692Test -
45
المؤلفون: Erica Werner, Avanti Gokhale, Christa Lese-Martin, Andres Moreno-De-Luca, Victor Faundez, Jennifer L. Larimore, Lomon So, Vladimir Lupashin, Yoland Smith
المصدر: The Journal of neuroscience : the official journal of the Society for Neuroscience. 32(11)
مصطلحات موضوعية: Proteomics, Biogenesis of lysosome-related organelles complex 1, Quantitative proteomics, Mice, Transgenic, Nerve Tissue Proteins, Biology, Article, Mice, Stable isotope labeling by amino acids in cell culture, Cell Line, Tumor, Animals, Humans, Genetic Predisposition to Disease, Copy-number variation, Gene, Genetic Association Studies, Genetics, Mice, Knockout, General Neuroscience, Dysbindin, Mice, Inbred C57BL, HEK293 Cells, Dystrophin-Associated Proteins, Schizophrenia, Carrier Proteins, Biogenesis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9688e741855b26b9ab9ea7e1d808fc8bTest
https://pubmed.ncbi.nlm.nih.gov/22423091Test -
46
المؤلفون: Ariana P. Mullin, Subhabrata Sanyal, Victor Faundez, Avanti Gokhale, Andres Moreno-De-Luca, John L. Waddington
المصدر: Translational Psychiatry
مصطلحات موضوعية: BLOC-1, Proteome, Developmental Disabilities, dysbindin, autism spectrum disorder, Disease, Computational biology, Review, Biology, DTNBP1, Genome, Developmental psychology, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Intellectual Disability, Intellectual disability, medicine, Humans, Biological Psychiatry, 030304 developmental biology, 0303 health sciences, medicine.disease, AP-3, 3. Good health, schizophrenia, Psychiatry and Mental health, Schizophrenia, Autism spectrum disorder, Child Development Disorders, Pervasive, Risk allele, Identification (biology), 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0b85d2a4188d405034485b5e49ce964Test
http://europepmc.org/articles/PMC4030327Test -
47
المصدر: The Lancet Neurology. (3):283-292
مصطلحات موضوعية: Asphyxia, Heterogeneous group, Physical disability, business.industry, Clinical Neurology, Psychological intervention, medicine.disease, Bioinformatics, Cerebral palsy, Clinical diagnosis, Intellectual disability, medicine, Autism, Neurology (clinical), medicine.symptom, business, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8db86c92bc2579dc7decbfb9f5f64581Test