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المؤلفون: P. R. J. Barnes, A. Roberts, David Hilton-Jones, G. Norbury, S. M. Huson
مصطلحات موضوعية: Genetics, Psychiatry and Mental health, business.industry, Medicine, Surgery, Neurology (clinical), business, medicine.disease, Genetic analysis, Myotonic dystrophy, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a84979cd3a97c6e6d29a882507a7eafe
https://doi.org/10.1136/jnnp.57.5.662 -
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المؤلفون: Dipak J. Kanabar, John Newsom-Davis, Nicholas P. Mann, Louise Brueton, David Hilton-Jones, S. M. Huson, P. R. J. Barnes
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pediatrics, Genetic counseling, medicine.medical_treatment, Neuromuscular Junction, Asymptomatic, Pregnancy, Recurrence, Myasthenia Gravis, medicine, Elbow, Humans, Family, Knee, Sex Distribution, Genetics (clinical), Arthrogryposis, business.industry, Infant, Newborn, Muscle weakness, Infant, medicine.disease, Myasthenia gravis, Surgery, Pregnancy Complications, Neurology, Pediatrics, Perinatology and Child Health, Plasmapheresis, Female, Neurology (clinical), medicine.symptom, business, Complication
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1b96ee95fea2a920ad76941abdb0834
https://ora.ox.ac.uk/objects/uuid:9695cb6d-6a86-4403-adc8-56e0141cb8bf -
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المؤلفون: Louise Brueton, P. R. J. Barnes, Julie Price, Phillip Cox, Angela Vincent, John Newsom-Davis, S. M. Huson, I. Shirley, Elizabeth M. Thompson
مصطلحات موضوعية: Arthrogryposis multiplex congenita, biology, Offspring, business.industry, Pena-Shokeir phenotype, fungi, medicine.disease, Phenotype, Asymptomatic, Myasthenia gravis, Hypokinesia, Immunology, biology.protein, medicine, Antibody, medicine.symptom, business, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f5929790d119b122b6a25d1f19bc860
https://ora.ox.ac.uk/objects/uuid:0bfac4a7-6228-4516-a3f8-8a2c91caaa43 -
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المؤلفون: D Cockburn, A Seller, John Nixon, S. M. Huson, J Hopkin
المصدر: Clinical Genetics. 62:29-38
مصطلحات موضوعية: Genetics, Pregnancy, biology, business.industry, Genetic counseling, Duchenne muscular dystrophy, Point mutation, medicine.disease, Genetic linkage, Gene duplication, biology.protein, medicine, Mutation testing, Dystrophin, business, Genetics (clinical)
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المؤلفون: Andrea H. Németh, A. Malcolm R. Taylor, Eimear Dunne, Matthew Jackson, John S. Elston, S. M. Huson, Mohammed A. Hannan, Cyril J. Chapman, Elena G. Bochukova
المصدر: The American Journal of Human Genetics. 67:1320-1326
مصطلحات موضوعية: Male, genetic structures, Genetic Linkage, Choreoathetosis, Cell Cycle Proteins, Ataxia Telangiectasia Mutated Proteins, Consanguinity, 0302 clinical medicine, Chromosome instability, Pakistan, Genetics(clinical), Lymphocytes, Oculomotor apraxia, Genetics (clinical), Genetics, MRE11 Homologue Protein, 0303 health sciences, Homozygote, Chromosome Mapping, Nuclear Proteins, Autosomal recessive cerebellar ataxia, Syndrome, Disease gene identification, Acid Anhydride Hydrolases, Pedigree, 3. Good health, DNA-Binding Proteins, Female, medicine.symptom, Chromosomes, Human, Pair 9, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Cerebellar Ataxia, Apraxias, Genes, Recessive, Biology, Protein Serine-Threonine Kinases, Ataxia Telangiectasia, 03 medical and health sciences, Report, medicine, Humans, RNA, Messenger, 030304 developmental biology, Cerebellar ataxia, Tumor Suppressor Proteins, X-Rays, medicine.disease, DNA Repair Enzymes, Ataxia-telangiectasia, Lod Score, 030217 neurology & neurosurgery, DNA Damage
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المؤلفون: S M Huson, P Gregory, E Maher, Anne Slavotinek, P Rowlandson
المصدر: Journal of Medical Genetics. 34:857-861
مصطلحات موضوعية: Adult, Male, Proband, Derivative chromosome, Chromosomes, Human, Pair 22, Chromosomal rearrangement, Biology, Genetics, Humans, Genetics (clinical), Chromosome Aberrations, Infant, Chromosome, Karyotype, Pedigree, Phenotype, Chromosome Band, Child, Preschool, Female, Chromosome Deletion, Chromosome 21, Hand Deformities, Congenital, Chromosome 22, Chromosomes, Human, Pair 7, Research Article
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المؤلفون: I. P. M. Tomlinson, S. M. Huson, Walter F. Bodmer, Eddie Maher, Angela F. Davies, David Markie
المصدر: Human Genetics. 98:125-128
مصطلحات موضوعية: Adult, Chromosome Aberrations, Genetic Markers, Male, Yeast artificial chromosome, Genetics, Breakpoint, Peutz-Jeghers Syndrome, Chromosome Mapping, Chromosome, Biology, Gene mapping, Genetic marker, Molecular Probes, Humans, Chromosomes, Human, Pair 6, Molecular probe, Chromosome 21, Chromosomes, Artificial, Yeast, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosomal inversion
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المؤلفون: R. Charlton, M. Mckinley, Zoe Christodoulou, Kay E. Davies, S. F. Slaney, S. M. Huson, J. Pointon, M. C. Hirst, Andrew O.M. Wilkie
المصدر: Archives of Disease in Childhood. 72:33-37
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Genetic counseling, Chromosomal fragile site, Genetic Carrier Screening, Locus (genetics), medicine.disease, FMR1, Fragile X syndrome, El Niño, Pediatrics, Perinatology and Child Health, medicine, business, Psychiatry, X chromosome
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المؤلفون: D G, Evans, N, Bowers, S M, Huson, A, Wallace
المصدر: Clinical genetics. 83(6)
مصطلحات موضوعية: Neurofibromatosis 2, Neurofibromin 2, Phenotype, Genotype, DNA Mutational Analysis, Mutation, Mutation, Missense, Humans, Genetic Predisposition to Disease, RNA Splice Sites, Frameshift Mutation, Severity of Illness Index, Gene Deletion
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المؤلفون: D. B. Grant, Andrew O.M. Wilkie, M. Mullarkey, S. M. Huson, F. M. Campbell, Piers E.F. Daubeney, R. J. Daniels, M. Fitchett, Nabeel A. Affara
المصدر: American Journal of Medical Genetics. 46:597-600
مصطلحات موضوعية: Male, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Sex Differentiation, Gonad, Chromosomes, Human, Pair 10, Disorders of Sex Development, Infant, Newborn, Infant, Karyotype, Micropenis, Sex reversal, Biology, medicine.disease, Phenotype, medicine.anatomical_structure, Hypospadias, Male pseudohermaphroditism, medicine, Humans, Sex organ, Chromosome Deletion, Genetics (clinical)
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