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المؤلفون: Alfredo Cabrera-Socorro, Julien Hadoux, Carmen Cifuentes-Diaz, Marcel A. Lauterbach, Tanay Ghosh, Jérémie Teillon, Jeanne d’Arc Al Bacha, Nicolas Gervasi, Thomas Lemonnier, Pierre Corvol, David Chitayat, Susan Blaser, Kiriko Kaneko, Kohji Takei, Annelise Bennaceur-Griscelli, Marion Russeau, Komudi Siriwardena, Maria Matheus, Marc Guillon, Matthias Groszer, Valentina Emiliani, Loredana Stoica, Hiroshi Yamada, Olivier Feraud, Charles E. Schwartz, Joy Norris, Cedric Mombereau, Geneviève Nguyen, Kenton R. Holden, Sadayoshi Ito, Roberto Mendoza-Londono, Takuo Hirose
المصدر: Journal of Clinical Investigation. 129:2145-2162
مصطلحات موضوعية: Central Nervous System, Male, Pluripotent Stem Cells, 0301 basic medicine, Vacuolar Proton-Translocating ATPases, Programmed cell death, Adolescent, Cell Survival, Central nervous system, Apoptosis, Receptors, Cell Surface, Protein degradation, Biology, Mice, 03 medical and health sciences, 0302 clinical medicine, Neural Stem Cells, medicine, Animals, Humans, Induced pluripotent stem cell, Neurons, ATP6AP2, Cell Death, Neurodegeneration, Brain, Genetic Variation, Cell Differentiation, Neurodegenerative Diseases, General Medicine, medicine.disease, Neural stem cell, Cell biology, Mice, Inbred C57BL, Alternative Splicing, Proton-Translocating ATPases, HEK293 Cells, 030104 developmental biology, Proteostasis, medicine.anatomical_structure, Child, Preschool, 030220 oncology & carcinogenesis, Lysosomes, Gene Deletion, HeLa Cells, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68250e6aef889b5758625e28424bd7a3Test
https://doi.org/10.1172/jci79990Test -
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المصدر: Journal of Child Neurology. 32:712-716
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Myocarditis, Adolescent, Genes, Viral, viruses, 030231 tropical medicine, Anti-Inflammatory Agents, Irritability, medicine.disease_cause, Antiviral Agents, Virus, 03 medical and health sciences, Age Distribution, 0302 clinical medicine, medicine, Humans, Chikungunya, Child, Intensive care medicine, Retrospective Studies, Neurologic Examination, business.industry, Infant, Newborn, Infant, virus diseases, Outbreak, Meningoencephalitis, medicine.disease, Honduras, Child, Preschool, Pediatrics, Perinatology and Child Health, Chikungunya Fever, Female, Neurology (clinical), Nervous System Diseases, medicine.symptom, business, Chikungunya virus, Child, Hospitalized, Meningitis, 030217 neurology & neurosurgery, Encephalitis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::154424a9f8be4980e370b7d68079c752Test
https://doi.org/10.1177/0883073817701879Test -
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المصدر: Innovare: Revista de ciencia y tecnología. 5:49-55
مصطلحات موضوعية: education.field_of_study, Telemedicine, Latin Americans, business.industry, Population, Specialty, Teleradiology, Subspecialty, Nursing, Health care, Medicine, Rural area, business, education
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::248688d9087529d7450543688c0bcd80Test
https://doi.org/10.5377/innovare.v5i1.3184Test -
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المؤلفون: Michael J. Lyons, Barbara R. DuPont, Jordan Broman‐Fulks, Alka Chaubey, Kenton R. Holden, Michael J. Friez, Isaac Molinero, Maria Matheus, Steve A. Skinner
المصدر: Clinical Case Reports
مصطلحات موضوعية: 0301 basic medicine, Microcephaly, medicine.medical_specialty, medicine.diagnostic_test, business.industry, education, familial microcephaly, neurodevelopmental delays, Case Report, General Medicine, Case Reports, medicine.disease, 03 medical and health sciences, 10p15.3 deletion, 030104 developmental biology, 0302 clinical medicine, medicine, Global health, Etiology, Psychiatry, business, 030217 neurology & neurosurgery, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d384955fc51a1571a6e2f7720e84df4Test
http://europepmc.org/articles/PMC5054472Test -
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المؤلفون: Kenton R. Holden, Michael J. Lyons, Ramin Eskandari, Amy Chen, Catherine J Spellicy, Jennifer A. Lee, Julie R. Jones, Thomas Larrew
المصدر: Journal of child neurology. 32(14)
مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Meningomyelocele, Germline mosaicism, 030105 genetics & heredity, Biology, 03 medical and health sciences, Transgenerational epigenetics, medicine, Humans, Genetic Testing, Exome sequencing, Genetic testing, Genetics, medicine.diagnostic_test, Neural tube defect, GTPase-Activating Proteins, Inheritance (genetic algorithm), Infant, Newborn, medicine.disease, Magnetic Resonance Imaging, Pedigree, Pediatrics, Perinatology and Child Health, Etiology, Neurology (clinical), Carrier Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bb982076b9a8d6a075d795da0c7650dTest
https://pubmed.ncbi.nlm.nih.gov/29129155Test -
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المصدر: Pediatric Neurology. 50:636-639
مصطلحات موضوعية: Candidate gene, Microcephaly, Class I Phosphatidylinositol 3-Kinases, Blepharophimosis, Biology, FOXL2 Gene, Phosphatidylinositol 3-Kinases, Developmental Neuroscience, Ptosis, Intellectual Disability, Intellectual disability, medicine, Humans, Child, Gene, In Situ Hybridization, Fluorescence, Genetics, Chromosome, Microarray Analysis, medicine.disease, Neurology, Urogenital Abnormalities, Pediatrics, Perinatology and Child Health, Skin Abnormalities, Female, Chromosomes, Human, Pair 3, Neurology (clinical), Chromosome Deletion, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28151921c924365cd545378c97d1c70bTest
https://doi.org/10.1016/j.pediatrneurol.2014.01.055Test -
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المؤلفون: M. Gisele Matheus, L. Kate Clarkson, Angie W. Lichty, Yuri A. Zarate, Kristen J. Champion, Kenton R. Holden
المصدر: Journal of Child Neurology. 29:NP13-NP17
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Tomography Scanners, X-Ray Computed, Brain vasculature, External hydrocephalus, medicine.disease_cause, Magnetic resonance angiography, Neurodevelopmental disorder, Germline mutation, medicine, Humans, Child, skin and connective tissue diseases, Computed tomography angiography, Mutation, medicine.diagnostic_test, business.industry, Noonan Syndrome, Brain, medicine.disease, Magnetic Resonance Imaging, Cerebrovascular Disorders, Pediatrics, Perinatology and Child Health, Noonan syndrome, raf Kinases, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e2c01b08d5ad24cbe76a6d3a1d159b9Test
https://doi.org/10.1177/0883073813492384Test -
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المصدر: American journal of medical genetics. Part A. 170(12)
مصطلحات موضوعية: 0301 basic medicine, Male, Genotype, Offspring, Developmental Disabilities, Dwarfism, Biology, Short stature, Frameshift mutation, 03 medical and health sciences, symbols.namesake, Young Adult, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Exome, Gene, Genetics (clinical), Exome sequencing, Alleles, Genetic Association Studies, Genes, Dominant, Sanger sequencing, Facies, High-Throughput Nucleotide Sequencing, Infant, medicine.disease, DNA-Binding Proteins, 030104 developmental biology, Phenotype, Amino Acid Substitution, Mutation (genetic algorithm), Mutation, symbols, Female, medicine.symptom, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7334e2d164ced3a55c09f68d30fec0aTest
https://pubmed.ncbi.nlm.nih.gov/27570168Test -
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المصدر: European Journal of Medical Genetics. 55:307-312
مصطلحات موضوعية: medicine.medical_specialty, Epilepsy, X-linked intellectual disability, business.industry, Brain, Syndrome, General Medicine, medicine.disease, Article, Anticonvulsant therapy, Phenotype, Intellectual disability, Mental Retardation, X-Linked, Genetics, medicine, Humans, Abnormalities, Multiple, business, Psychiatry, Metabolism, Inborn Errors, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bcc723efcade073e7f64e3ab8988bb4Test
https://doi.org/10.1016/j.ejmg.2012.01.017Test -
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المؤلفون: Kenton R. Holden, Barbara R. DuPont, Gregory F. Guzauskas, Maria del Carmen Montoya, Lynn Dukes-Rimsky, Anand K. Srivastava, Rachel Griggs, Sydney Ladd
المصدر: American Journal of Medical Genetics Part A. 155:2146-2153
مصطلحات موضوعية: Adult, Male, Chromosomal translocation, Biology, Polymerase Chain Reaction, Short stature, Translocation, Genetic, Article, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Dysmorphic facial features, Child, In Situ Hybridization, In Situ Hybridization, Fluorescence, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Dysmorphic facies, medicine.diagnostic_test, Infant, Body Dysmorphic Disorders, medicine.disease, Chromosome translocations, Hypotonia, Phenotype, Child, Preschool, Muscle Hypotonia, Female, Chromosome Deletion, Chromosomes, Human, Pair 4, medicine.symptom, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a36270fce1d5febfd6709cc9e7cbf49Test
https://doi.org/10.1002/ajmg.a.34137Test