-
1
المؤلفون: B. E. Kendall, B. D. Lake, Magda Erdohazi, J. Egger, E. M. Brett, J. Wilson
المصدر: Developmental Medicine & Child Neurology. 25:32-42
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Adolescent, Biopsy, Intelligence, Central nervous system, Neural Conduction, Nerve Fibers, Myelinated, Muscular Dystrophies, White matter, Atrophy, Developmental Neuroscience, medicine, Humans, Child, Myopathy, Cerebral Cortex, Brain Diseases, medicine.diagnostic_test, business.industry, Muscles, Brain biopsy, medicine.disease, Hydrocephalus, Surgery, medicine.anatomical_structure, Child, Preschool, Cerebellar cortex, Pediatrics, Perinatology and Child Health, Congenital muscular dystrophy, Female, Neurology (clinical), medicine.symptom, Tomography, X-Ray Computed, business, Follow-Up Studies
-
2
المؤلفون: E. M. Brett, T. M. Rivinus, R. M. Veall, Rosemary Stephen
المصدر: Journal of Intellectual Disability Research. 23:231-242
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Dwarfism, Short stature, Growth hormone deficiency, Child Development, Arts and Humanities (miscellaneous), Intellectual Disability, Humans, Medicine, Endocrine system, Abnormalities, Multiple, Dermatoglyphics, Child, business.industry, Rehabilitation, Börjeson-Forssman-Lehmann syndrome, Infant, Clinical appearance, Orofaciodigital Syndromes, Anthropometry, medicine.disease, Hormones, Psychiatry and Mental health, Endocrine studies, Neurology, Child, Preschool, Mental state, Neurology (clinical), medicine.symptom, business, Follow-Up Studies
-
3
المؤلفون: E. M. Brett, Robin M. Winter, Michael Baraitser
المصدر: Clinical Genetics. 24:257-265
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pediatrics, Fingers, Internal medicine, Genetics, medicine, Humans, Greig Syndrome, Abnormalities, Multiple, Syndactyly, Craniofacial, Hypertelorism, Child, Genetics (clinical), Greig cephalopolysyndactyly syndrome, Bone Diseases, Developmental, Polydactyly, business.industry, Macrocephaly, Syndrome, Toes, medicine.disease, Acrocallosal syndrome, Pedigree, Endocrinology, Face, Female, medicine.symptom, business
-
4
المؤلفون: S Lindstedt, E Holme, E M Brett, T C Gibbs, Peter E. Clayton, J Payan
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 56:1129-1132
مصطلحات موضوعية: medicine.medical_specialty, Exacerbation, Neural Conduction, 4-Hydroxyphenylpyruvate Dioxygenase, Gastroenterology, Tyrosinemia, Liver disease, Renal tubular dysfunction, Tubulopathy, Internal medicine, medicine, Humans, Amino Acid Metabolism, Inborn Errors, Cyclohexanones, Electromyography, business.industry, Peripheral Nervous System Diseases, Polyradiculoneuropathy, Hyporeflexia, medicine.disease, Surgery, Psychiatry and Mental health, Peripheral neuropathy, Child, Preschool, Nitrobenzoates, Tyrosine, Female, Neurology (clinical), medicine.symptom, business, Research Article
-
5
المؤلفون: J. Wilson, E. M. Brett, Michael Baraitser, Godfrey C, Ingrid E. Scheffer
المصدر: Neuropediatrics. 23:53-56
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Microcephaly, Pediatrics, Adolescent, Genetic counseling, Chromosome Disorders, Genes, Recessive, Genetic Counseling, macromolecular substances, Severe psychomotor retardation, Consanguinity, Intellectual Disability, Internal medicine, Diseases in Twins, medicine, Humans, Spasticity, Sibling, Chromosome Aberrations, Neurologic Examination, Psychomotor retardation, Autosomal recessive inheritance, business.industry, Brain, Infant, General Medicine, medicine.disease, Endocrinology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Atrophy, medicine.symptom, business, Neurological impairment
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fabf482820bad7e8c2aa6dee68e8b0c
https://doi.org/10.1055/s-2008-1071313 -
6
المؤلفون: Ingrid E. Scheffer, Michael Baraitser, E. M. Brett, B.E. Kendall, Brian Harding, J. Wilson
المصدر: Neuropediatrics. 22:71-78
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, X Chromosome, Genetic Linkage, Stridor, Genetic counseling, Autopsy, Nystagmus, Diagnosis, Differential, Degenerative disease, Evoked Potentials, Auditory, Brain Stem, Humans, Medicine, Child, medicine.diagnostic_test, business.industry, Brain biopsy, Leukodystrophy, Age Factors, Infant, Newborn, Brain, Infant, Pelizaeus–Merzbacher disease, Diffuse Cerebral Sclerosis of Schilder, General Medicine, medicine.disease, Magnetic Resonance Imaging, Pedigree, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af5de2233cd2beed078a7850f0a425a1
https://doi.org/10.1055/s-2008-1071420 -
7
المؤلفون: Harden A, M G Harbord, E. M. Brett, Brian Harding, Michael Baraitser
المصدر: Neuropediatrics. 21:164-168
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Ataxia, Cerebellar Ataxia, Biopsy, White matter, Consanguinity, Seizures, medicine, Humans, Brainstem auditory evoked potential, Megalencephaly, Evoked Potentials, Myelin Sheath, medicine.diagnostic_test, business.industry, Brain biopsy, Skull, Leukodystrophy, Diffuse Cerebral Sclerosis of Schilder, Electroencephalography, General Medicine, medicine.disease, Canavan disease, Alexander disease, Frontal Lobe, Microscopy, Electron, medicine.anatomical_structure, Muscle Spasticity, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, Tomography, X-Ray Computed, business, Demyelinating Diseases
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53f3cee131e09b4365cada920650e8a8
https://doi.org/10.1055/s-2008-1071487 -
8
المؤلفون: E M Brett
المصدر: BMJ. 300:1604-1606
مصطلحات موضوعية: Adult, medicine.medical_specialty, Pediatrics, Epilepsy, Adolescent, medicine.diagnostic_test, business.industry, General Engineering, Electroencephalography, General Medicine, medicine.disease, Child, Preschool, Family medicine, medicine, Humans, General Earth and Planetary Sciences, Diagnostic Errors, Child, Medical History Taking, business, Research Article, General Environmental Science
-
9
المؤلفون: M. Baraitser, E. M. Brett, P. Nicolaides
المصدر: Clinical genetics. 43(6)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Epilepsy, business.industry, Spastic Paraplegia, Hereditary, Neurological disorder, medicine.disease, nervous system diseases, Child, Preschool, Intellectual Disability, Genetics, Spastic, medicine, Progressive spasticity, Humans, Female, Spasticity, medicine.symptom, business, Paraplegia, Child, Genetics (clinical)
-
10
المؤلفون: J. Wilson, Stewart Boyd, Brian Harding, M. A. Mcshane, E. M. Brett
المصدر: Brain : a journal of neurology. 115
مصطلحات موضوعية: Male, Motor Neurons, Pediatrics, medicine.medical_specialty, Pathology, Degenerative Disorder, business.industry, Bulbar Palsy, Progressive, Cranial Nerves, Infant, Neuropathology, Disease, medicine.disease, Fazio–Londe disease, Degenerative disease, Brown–Vialetto–Van Laere syndrome, medicine, Humans, Female, Neurology (clinical), Sibling, business, Pathological
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f22e1b675d570eb51f800b393e91c82
https://pubmed.ncbi.nlm.nih.gov/1486466