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1Academic Journal
المؤلفون: Sundaramurthi, Jagadish, Bagley, Anita, Blau, Hannah, Carmody, Leigh, Crandall, Amy, Danis, Daniel, Gargano, Michael, Gustafson, Anxhela, Raney, Ellen, Shingle, Mallory, Robinson, Peter, Davids, Jon
المصدر: Cold Spring Harbor Molecular Case Studies. 9(4)
مصطلحات موضوعية: absent speech, bilateral convulsive seizures, bilateral talipes equinovarus, broad forehead, deeply set eye, intellectual disability, moderate, language impairment, moderate global developmental delay, thoracic scoliosis, torticollis, Humans, Cerebral Palsy, Intellectual Disability, Mutation, Missense, Phenotype, Nervous System Malformations, TRPM Cation Channels
وصف الملف: application/pdf
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المؤلفون: Hannah W. Moore, Jane DeLuca, Jessica A Cooley Coleman, Steven A. Skinner, Luigi Boccuto, Sara M. Sarasua
المصدر: American Journal of Medical Genetics Part A. 185:3884-3894
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Epilepsy, Inclusion (disability rights), MEF2 Transcription Factors, business.industry, MEDLINE, Haploinsufficiency, medicine.disease, Phenotype, Hypotonia, Systematic review, Absent speech, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Muscle Hypotonia, Genetic Predisposition to Disease, Chromosome Deletion, medicine.symptom, business, Stereotypic movements, Genetics (clinical)
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3Academic Journal
المؤلفون: Rinaldi, B, Vaisfeld, A, Amarri, S, Baldo, C, Gobbi, G, Magini, P, Melli, E, Neri, G, Novara, F, Pippucci, T, Rizzi, R, Soresina, A, Zuffardi, O, Crimi, M., ZAMPINI, LAURA
المساهمون: Rinaldi, B, Vaisfeld, A, Amarri, S, Baldo, C, Gobbi, G, Magini, P, Melli, E, Neri, G, Novara, F, Pippucci, T, Rizzi, R, Soresina, A, Zampini, L, Zuffardi, O, Crimi, M
مصطلحات موضوعية: Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Abnormality of the corpus callosum, Abnormality of the eye, Abnormality of the face, Abnormality of the immune system, Abnormality of the retina, Abnormality of vision, Absent speech, Aggressive behavior, Anorexia, Arthriti, Aspiration, Astigmatism, Autism, Autistic behavior, Autoimmunity, Behavioral abnormality, Best practice, Blepharophimosi, Brain atrophy, Cafe-au-lait spot, Caregiver, Cataract, Celiac disease, Coloboma, Constipation, Dehydration, Diaphragmatic weakne, Downslanted palpebral fissure
Relation: info:eu-repo/semantics/altIdentifier/pmid/28399932; info:eu-repo/semantics/altIdentifier/wos/WOS:000398962300003; volume:12; issue:1; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/10281/149247; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018464372
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4Academic Journal
المؤلفون: Division of Genetics, Department of Pediatrics, University of Florida, P.O. Box 100296, Gainesville, FL 32610, USA ( host institution ), Williams, Charles A. ( author )
مصطلحات موضوعية: Angelman syndrome, Seizures, Ataxia, UBE3A, E6AP, Ubiquitin, 15q11.2, Absent speech
وصف الملف: Pages 88-94
Relation: Brain and Development; S0387-7604(04)00105-6; BRADEV; 1520; http://ufdc.ufl.edu/LS00520770/00001
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المؤلفون: Séverine Drunat, Yoann Vial, Janvier Hitayezu, Annette Uwineza, Stephane Wenric, Sandrine Passemard, Alain Verloes, Vincent El Ghouzzi, Vincent Bours, Jean-Hubert Caberg, Leon Mutesa
المساهمون: Service de génétique, CHU du Sart-Tilman, Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Physiopathologie, conséquences fonctionnelles et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-IFR2-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Liège (CHU-Liège), UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2019, 62 (8), pp.103704. ⟨10.1016/j.ejmg.2019.103704⟩مصطلحات موضوعية: Male, Microcephaly, VPS51, Endosome, Vesicular Transport Proteins, Postnatal microcephaly, Endosomes, Biology, Nervous System Malformations, 03 medical and health sciences, EARP, 0302 clinical medicine, GARP, Dandy–Walker syndrome, Absent speech, Intellectual disability, Genetics, medicine, Golgi, Humans, Child, Genetics (clinical), Exome sequencing, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, Golgipathies, [SDV.GEN]Life Sciences [q-bio]/Genetics, Neurodevelopmental disorders, Rwanda, Brain, General Medicine, medicine.disease, Protein Transport, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Cerebellar atrophy, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], 030217 neurology & neurosurgery, trans-Golgi Network
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مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, media_common.quotation_subject, Speech sounds, Right angular gyrus, Audiology, stomatognathic diseases, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, Absent speech, Perception, otorhinolaryngologic diseases, medicine, Active listening, Psychology, 030217 neurology & neurosurgery, 030304 developmental biology, media_common, Biological motion
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7Academic Journal
المؤلفون: Millichap, J Gordon
المصدر: Pediatric Neurology Briefs; Vol 5, No 05 | May 1991; 33-33 ; 2166-6482 ; 1043-3155 ; 10.15844/pedneurbriefs-5-5
مصطلحات موضوعية: Severe Mental Retardation, Absent Speech, Hyperactive Reflexes
وصف الملف: application/xml; application/pdf
Relation: https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-5-5-1/6298; https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-5-5-1/6299; https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-5-5-1
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8
المؤلفون: Violetta Anastasiadou, George A. Tanteles, Carolina Sismani, Angelos Alexandrou, Paola Evangelidou, Marina Gavatha
المصدر: American Journal of Medical Genetics Part A
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, Disease, 03 medical and health sciences, Exon, MEF2C Gene, Absent speech, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, MEF2C, Genetic Association Studies, Genetics (clinical), 030304 developmental biology, Comparative Genomic Hybridization, 0303 health sciences, MEF2 Transcription Factors, business.industry, Siblings, 030305 genetics & heredity, Vascular malformation, Facies, Jugular fossa, medicine.disease, Phenotype, medicine.anatomical_structure, Chromosomes, Human, Pair 5, Chromosome Deletion, business, Gene Deletion
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9
المؤلفون: Daniel C, Koboldt, Theresa, Mihalic Mosher, Benjamin J, Kelly, Emily, Sites, Dennis, Bartholomew, Scott E, Hickey, Kim, McBride, Richard K, Wilson, Peter, White
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: cleft of chin, recurrent hand flapping, Adolescent, Developmental Disabilities, aplasia/hypoplasia of the corpus callosum, autism, Exome Sequencing, Humans, Abnormalities, Multiple, high, narrow palate, intellectual disability, severe, severe global developmental delay, Genetic Association Studies, clinodactyly of the 5th finger, high forehead, incisor macrodontia, hypertelorism, Siblings, absent speech, Syndrome, generalized hirsutism, short stature, Phenotype, downslanted palpebral fissures, Codon, Nonsense, prominent nasal bridge, thick eyebrow, Female, severe muscular hypotonia, broad nasal tip, Rapid Communication, Genome-Wide Association Study, Transcription Factors
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المؤلفون: Zohreh Fattahi, Zahra Kalhor, Mehrshid Faraji Zonooz, Hossein Najmabadi, Ariana Kariminejad, Hilda Yazdan, Mahmoud Reza Ashrafi, Elham Rahimian
المصدر: European journal of medical genetics. 62(9)
مصطلحات موضوعية: Male, medicine.medical_specialty, Eye contact, Nerve Tissue Proteins, Audiology, Epileptogenesis, Absent speech, Seizures, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Autistic features, Autistic Disorder, Child, Genetics (clinical), Seizure threshold, business.industry, Homozygote, General Medicine, medicine.disease, Mutation (genetic algorithm), Mutation, Autism, business
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المؤلفون: Sergio Amarri, Annarosa Soresina, Alessandro Vaisfeld, Giuseppe Gobbi, Giovanni Neri, Chiara Baldo, Tommaso Pippucci, Marco Crimi, Laura Zampini, Francesca Novara, Erto Melli, Pamela Magini, Berardo Rinaldi, Orsetta Zuffardi, Romana Rizzi
المساهمون: Rinaldi, B, Vaisfeld, A, Amarri, S, Baldo, C, Gobbi, G, Magini, P, Melli, E, Neri, G, Novara, F, Pippucci, T, Rizzi, R, Soresina, A, Zampini, L, Zuffardi, O, Crimi, M
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-11 (2017)مصطلحات موضوعية: Myoclonus, Abnormality of skin pigmentation, Brain atrophy, Autism Spectrum Disorder, Ring chromosome, Chromosome Disorders, Autoimmunity, Review, Recommendations, 030105 genetics & heredity, Optic neuropathy, 0302 clinical medicine, Ring Chromosomes, Pharmacology (medical), Pallor, Feeding difficultie, Diaphragmatic weakness, Status epilepticus, Retinal degeneration, Abnormality of the immune system, Dehydration, Focal seizure, General Medicine, Dysphagia, Recurrent infection, Abnormality of the eye, Autism spectrum disorder, Cafe-au-lait spot, Diaphragmatic weakne, Focal seizures with impairment of consciousness or awarene, Underdeveloped supraorbital ridge, Feeding difficulties, Downslanted palpebral fissures, Arthriti, Large forehead, medicine.medical_specialty, Best practices, Epicanthus, Cataract, Autistic behavior, Recurrent upper respiratory tract infection, Ring14 syndrome, Cytogenetics, 03 medical and health sciences, Microphthalmia, Humans, Scoliosi, Arthritis, lcsh:R, Absent speech, Aggressive behavior, Full cheek, Glaucoma, Guideline, Pneumonia, Recommendation, medicine.disease, Strabismus, Short stature, Ventriculomegaly, Osteoporosis, Stereotypy, Focal seizures with impairment of consciousness or awareness, Abnormality of the face, 030217 neurology & neurosurgery, Recurrent pneumonia, 0301 basic medicine, Pediatrics, Autism, Global developmental delay, Intellectual disability, lcsh:Medicine, Best practice, Encephalopathy, Respiratory failure, Epilepsy, Blepharophimosi, Behavioral abnormality, Myopia, Full cheeks, Celiac disease, Flexion contracture, Facial asymmetry, Genetics (clinical), Hypertelorism, Status epilepticu, Muscular hypotonia, Seizure, Anorexia, Coloboma, Caregivers, Ring chromosome 14 syndrome, Microcephaly, Respiratory insufficiency, Fever, Milia, Respiratory tract infection, Underdeveloped supraorbital ridges, Pain, Blepharophimosis, Hearing impairment, Focal seizures, Seizures, Strabismu, Scoliosis, Recurrent infections, medicine, Epicanthu, Thin vermilion border, Chromosomes, Human, Pair 14, Abnormality of retinal pigmentation, Growth delay, Increased body weight, business.industry, Osteopenia, Malnutrition, Osteoporosi, Abnormality of the corpus callosum, Astigmatism, Caregiver, Horizontal eyebrow, Abnormality of vision, Hyperactivity, Recurrent upper respiratory tract infections, Aspiration, Downslanted palpebral fissure, Abnormality of the retina, business, Constipation, Myoclonu
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12
المؤلفون: Hemant, Bengani, Mark, Handley, Mohsan, Alvi, Rita, Ibitoye, Melissa, Lees, Sally Ann, Lynch, Wayne, Lam, Madeleine, Fannemel, Ann, Nordgren, H, Malmgren, M, Kvarnung, Sarju, Mehta, Shane, McKee, Margo, Whiteford, Fiona, Stewart, Fiona, Connell, Jill, Clayton-Smith, Sahar, Mansour, Shehla, Mohammed, Alan, Fryer, Jenny, Morton, Detelina, Grozeva, Tara, Asam, David, Moore, Alejandro, Sifrim, Jeremy, McRae, Matthew E, Hurles, Helen V, Firth, F Lucy, Raymond, Usha, Kini, Christoffer, Nellåker, Ddd Study, David R, FitzPatrick
المصدر: Genetics in Medicine
مصطلحات موضوعية: CUT domain, Whole Genome Sequencing, Mutation, Missense, absent speech, Haploinsufficiency, Matrix Attachment Region Binding Proteins, de novo mutation, Cell Line, Cohort Studies, SATB2, Loss of Function Mutation, intellectual disability, Humans, Original Research Article, Genetic Association Studies, HeLa Cells, Protein Binding, Transcription Factors
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13
المؤلفون: Mythily Ganapathi, Volkan Okur, Wendy K. Chung, Ashley Wilson
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Adolescent, Valine-tRNA Ligase, Developmental Disabilities, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Seizures, Intellectual Disability, Exome Sequencing, Intellectual disability, medicine, Humans, Missense mutation, Exome, appendicular hypotonia, Child, Gene, Alleles, Likely pathogenic, Exome sequencing, Cortical atrophy, premature birth following premature rupture of fetal membranes, Genetics, business.industry, Siblings, absent speech, General Medicine, medicine.disease, Pedigree, intellectual disability, moderate, Phenotype, 030104 developmental biology, Neurodevelopmental Disorders, Mutation, business, Rapid Communication, 030217 neurology & neurosurgery
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المؤلفون: Annette Maughan, Kai Wang, Janet Malcolmson, Reid J. Robison, Lesa Nelson, David Tegay, Kenneth D. Ward, Gholson J. Lyon, Robert Kleyner, Glenn Maughan
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: 0301 basic medicine, Proband, Research Report, Male, short toe, Bioinformatics, 0302 clinical medicine, Gene duplication, pes planus, short philtrum, Exome sequencing, Genetics, Sanger sequencing, clinodactyly of the 5th finger, Nucleotides, General Medicine, Pedigree, developmental regression, intellectual disability, moderate, Phenotype, symbols, low CSF 5-methyltetrahydrofolate, Chromosome Deletion, Developmental regression, Heterozygote, Adolescent, autism, Single-nucleotide polymorphism, Biology, 03 medical and health sciences, symbols.namesake, Intellectual Disability, Exome Sequencing, medicine, Humans, Abnormalities, Multiple, Loss function, Bone Diseases, Developmental, Tooth Abnormalities, Facies, absent speech, medicine.disease, generalized tonic–clonic seizures on awakening, Repressor Proteins, 030104 developmental biology, bilateral single transverse palmar creases, Autism, broad nasal tip, 030217 neurology & neurosurgery, Chromosomes, Human, Pair 16
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15
المؤلفون: Erika Souche, Koenraad Devriendt, Maureen Holvoet, Leila Dardour, Valerie Race, Filip Roelens
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: Research Report, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Spastic gait, Pediatrics, medicine.medical_specialty, Hereditary spastic paraplegia, Nonsense mutation, Short stature, 03 medical and health sciences, Dysarthria, 0302 clinical medicine, Distal amyotrophy, medicine, Spastic, intellectual disability, mild, business.industry, absent speech, General Medicine, medicine.disease, progressive spastic paraplegia, nervous system diseases, 030104 developmental biology, 030220 oncology & carcinogenesis, spastic gait, medicine.symptom, Paraplegia, business
وصف الملف: Electronic-Print; application/pdf
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المصدر: Arquivos de Neuro-Psiquiatria, Volume: 55, Issue: 2, Pages: 329-333, Published: JUN 1997
Arquivos de Neuro-Psiquiatria v.55 n.2 1997
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEUROمصطلحات موضوعية: Proband, medicine.medical_specialty, business.industry, Audiology, chromosome 15, medicine.disease, Gait, genomic imprinting, Macrostomia, Neurology, Absent speech, Angelman syndrome, Clinical diagnosis, Medicine, síndrome de Angelman, imprinting genômico, Neurology (clinical), business, cromossomo 15
وصف الملف: text/html
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17
المؤلفون: Janet Malcolmson, Justine Coppinger, Reid J. Robison, Miriam H. Meisler, Robert Kleyner, Lesa Nelson, Kenneth D. Ward, Kai Wang, Gholson J. Lyon, Whit Adams, David Tegay
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: Research Report, 0301 basic medicine, dysphagia, infantile axial hypotonia, gastroesophageal reflux, blepharospasm, generalized tonic seizures, Biology, medicine.disease_cause, Bioinformatics, broad forehead, full cheeks, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, developmental stagnation at onset of seizures, medicine, neck muscle weakness, Missense mutation, appendicular hypotonia, intellectual disability, severe, obstructive sleep apnea, Exome sequencing, Bulbar palsy, G alpha subunit, generalized tonic-clonic seizures on awakening, Mutation, hypoxemia, respiratory difficulties, absent speech, gingival overgrowth, General Medicine, no social interaction, gastrostomy tube feeding in infancy, medicine.disease, failure to thrive in infancy, developmental regression, epileptic encephalopathy, 030104 developmental biology, bulbar palsy, exaggerated startle response, medicine.symptom, Infantile axial hypotonia, Developmental regression, action tremor, 030217 neurology & neurosurgery
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المؤلفون: Charles A. Williams
المصدر: American journal of medical genetics. Part C, Seminars in medical genetics. (4)
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, media_common.quotation_subject, Happiness, Laughter, Central nervous system disease, Absent speech, Angelman syndrome, Internal medicine, Happy puppet syndrome, Genetics, Medicine, Humans, Social Behavior, Genetics (clinical), Psychomotor Agitation, media_common, Ataxic movements, Behavior, business.industry, Genetic disorder, nutritional and metabolic diseases, medicine.disease, Phenotype, nervous system diseases, Endocrinology, Angelman Syndrome, business, Neuroscience
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19
المؤلفون: Stormy J. Chamberlain, Marc Lalande
المصدر: The Journal of neuroscience : the official journal of the Society for Neuroscience. 30(30)
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Chromosomes, Human, Pair 15, Ataxia, General Neuroscience, Ubiquitin-Protein Ligases, nutritional and metabolic diseases, Brain, medicine.disease, nervous system diseases, Disease Models, Animal, Genomic Imprinting, Absent speech, Angelman syndrome, Intellectual disability, medicine, Animals, Humans, Disease Focus, Inappropriate laughter, medicine.symptom, Angelman Syndrome, Genomic imprinting, Psychiatry, Psychology
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المؤلفون: Justyna Paprocka, Elzbieta Marszał, Barbara Szwed-Białozyt, Aleksandra Jezela-Stanek, Ewa Jamroz, Ilona Kopyta
المصدر: The neurologist. 13(5)
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Genotype, Drug Resistance, Speech Disorders, Epilepsy, Absent speech, Seizures, Angelman syndrome, Intellectual Disability, Medicine, Humans, Dysmorphic facial features, Child, Genetics, Behavior, Movement Disorders, business.industry, Chromosome, Infant, Electroencephalography, General Medicine, medicine.disease, Phenotype, Magnetic Resonance Imaging, Child, Preschool, Anticonvulsants, Female, Neurology (clinical), Angelman Syndrome, business