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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
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2
المؤلفون: J E, Mellerio, L, Pulkkinen, J R, McMillan, B D, Lake, H M, Horn, M J, Tidman, J I, Harper, J A, McGrath, J, Uitto, R A, Eady
المصدر: British Journal of Dermatology. 139:862-871
مصطلحات موضوعية: Male, Integrins, Pathology, medicine.medical_specialty, Dermatology, Biology, Compound heterozygosity, medicine.disease_cause, Exon, Antigens, CD, medicine, Humans, Missense mutation, Child, Pylorus, Skin, Mutation, Splice site mutation, Integrin beta4, Syndrome, medicine.disease, Pedigree, Child, Preschool, Atresia, Cancer research, Epidermolysis Bullosa, Junctional, Junctional epidermolysis bullosa (veterinary medicine)
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3
المؤلفون: B. D. Lake, N. A. Hall
المصدر: Journal of Inherited Metabolic Disease. 16:263-266
مصطلحات موضوعية: Neurons, Pathology, medicine.medical_specialty, Sheep, Batten disease, Protein subunit, Infantile neuronal ceroid lipofuscinosis, Biology, medicine.disease, Immunohistochemistry, Epithelium, Proton-Translocating ATPases, Neuronal Ceroid-Lipofuscinoses, Genetics, medicine, Animals, Humans, Juvenile, Tissue Distribution, Genetics (clinical)
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4
المؤلفون: David J. Atherton, B. D. Lake, M. Glover
المصدر: Pediatric Dermatology. 9:255-258
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Biopsy, Infantile systemic hyalinosis, Dermatology, Humans, Medicine, Intestinal Mucosa, Hyaline, Skin, medicine.diagnostic_test, business.industry, Papillary dermis, Infant, Newborn, Infant, Hyperplasia, medicine.disease, Trunk, Microscopy, Electron, Diarrhea, Infantile, Gingival Hyperplasia, Pediatrics, Perinatology and Child Health, Lipoid Proteinosis of Urbach and Wiethe, Female, Bloody diarrhea, Juvenile hyaline fibromatosis, business
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5
المؤلفون: I W Booth, W M Bisset, Virpi V. Smith, B D Lake, Peter J. Milla, S P Devane, R Coombes
المصدر: Archives of Disease in Childhood. 67:218-221
مصطلحات موضوعية: Diarrhea, Torsion Abnormality, medicine.medical_specialty, Manometry, Vomiting, Enteral administration, Gastroenterology, Postoperative Complications, Internal medicine, Intestine, Small, medicine, Humans, business.industry, Intestinal Pseudo-Obstruction, Infant, Newborn, Infant, Feeding Behavior, medicine.disease, Small intestine, Surgery, medicine.anatomical_structure, El Niño, Intestinal malrotation, Child, Preschool, Pediatrics, Perinatology and Child Health, Etiology, Abnormality, medicine.symptom, Gastrointestinal Motility, business, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::505a51026016597b397f5727b9ca8fda
https://doi.org/10.1136/adc.67.2.218 -
6
المؤلفون: A D Patrick, Nazneen N. Dewji, B D Lake, Nicholas A. Hall
المصدر: Biochemical Journal. 275:269-272
مصطلحات موضوعية: Aging, congenital, hereditary, and neonatal diseases and abnormalities, Macromolecular Substances, Protein subunit, Blotting, Western, Submitochondrial Particles, engineering.material, Biochemistry, Lipofuscin, Immunoenzyme Techniques, Pathogenesis, Neuronal Ceroid-Lipofuscinoses, Lysosome, medicine, Humans, Molecular Biology, Aged, chemistry.chemical_classification, ATP synthase, biology, Brain, nutritional and metabolic diseases, Cell Biology, Middle Aged, medicine.disease, Mitochondria, Molecular Weight, Proton-Translocating ATPases, medicine.anatomical_structure, Batten, Enzyme, chemistry, engineering, biology.protein, Neuronal ceroid lipofuscinosis, Lysosomes, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2643d36cb22ca40a6ead6584a112d2f
https://doi.org/10.1042/bj2750269 -
7
المؤلفون: E P, Young, B G, Winchester, W, Peter Logan, R B, Wheeler, B D, Lake
المصدر: Prenatal diagnosis. 20(4)
مصطلحات موضوعية: Tripeptidyl-Peptidase 1, DNA Mutational Analysis, Aminopeptidases, Fatal Outcome, Chorionic Villi Sampling, Neuronal Ceroid-Lipofuscinoses, Pregnancy, Child, Preschool, Cytogenetic Analysis, Endopeptidases, Humans, Female, Chorionic Villi, Serine Proteases, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
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8
المؤلفون: John I. Harper, B. D. Lake, M. R. Judge, V. V. Smith, G. T. N. Besley
المصدر: Journal of Inherited Metabolic Disease. 14:338-340
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Formazans, Sjögren–Larsson syndrome, Histocytochemistry, business.industry, Enzyme histochemistry, Ichthyosis, Dehydrogenase, medicine.disease, Diagnosis, Differential, Alcohol Oxidoreductases, Sjogren-Larsson Syndrome, Genetics, medicine, Humans, Immunohistochemistry, Hexanols, business, Genetics (clinical), Skin, Hexanol
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9
المؤلفون: H M, Mitchison, D J, Bernard, N D, Greene, J D, Cooper, M A, Junaid, R K, Pullarkat, N, de Vos, M H, Breuning, J W, Owens, W C, Mobley, R M, Gardiner, B D, Lake, P E, Taschner, R L, Nussbaum
المصدر: Neurobiology of disease. 6(5)
مصطلحات موضوعية: Male, Mice, Knockout, Neurons, Membrane Glycoproteins, Genotype, Tripeptidyl-Peptidase 1, Reverse Transcriptase Polymerase Chain Reaction, Restriction Mapping, Proteins, Hypertrophy, Kidney, Hippocampus, Disease Models, Animal, Mice, Interneurons, Neuronal Ceroid-Lipofuscinoses, Animals, Humans, Female, Molecular Chaperones
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10
المؤلفون: Steven J. Steinberg, E. C. Logan, G. Hulman, Chandra Ward, A. R. Grant, B. D. Lake, Anthony H. Fensom
المصدر: Journal of inherited metabolic disease. 22(1)
مصطلحات موضوعية: Niemann-Pick Diseases, Pediatrics, medicine.medical_specialty, Disease, Biology, Middle Aged, medicine.disease, Human genetics, Endocrinology, Internal medicine, Genetics, medicine, Humans, Niemann–Pick disease, Genetics (clinical)