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S M Huson

Showing results (61-70 of 85) with videos related to

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Lancet (London, England)|April 30, 1994
Analysis of limb reduction defects in babies exposed to chorionic villus samplingH V Firth, P A Boyd, P F Chamberlain, et al.
Annals of the New York Academy of Sciences|January 1, 1986
Evidence against linkage of von Recklinghausen neurofibromatosis and chromosome 19 markersS M Huson, A L Meredith, M Sarfarazi, et al.
Clinical Genetics|December 9, 2009
Further genotype--phenotype correlations in neurofibromatosis 2S K Selvanathan, A Shenton, R Ferner, et al.
Journal of Medical Genetics|April 1, 1994
Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?M S Fewtrell, P K Tam, A H Thomson, et al.
Neuromuscular Disorders : NMD|January 1, 1995
Recurrent congenital arthrogryposis leading to a diagnosis of myasthenia gravis in an initially asymptomatic motherP R Barnes, D J Kanabar, L Brueton, et al.
Journal of Musculoskeletal & Neuronal Interactions|March 1, 2013
Vitamin D status and muscle function in children with neurofibromatosis type 1 (NF1)C W Hockett, J Eelloo, S M Huson, et al.
Journal of Medical Genetics|February 20, 2007
Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplificationD Gareth R Evans, R T Ramsden, A Shenton, et al.
Journal of Medical Genetics|December 1, 1992
A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severityD G Evans, S M Huson, D Donnai, et al.
American Journal of Medical Genetics|October 1, 1993
Mesomelic limb shortness: a previously unreported autosomal recessive typeW Reardon, C M Hall, S Slaney, et al.
American Journal of Human Genetics|October 7, 2000
Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34A H Németh, E Bochukova, E Dunne, et al.
Pageof 9

Showing results (61-70 of 85) with videos related to

Sort By:
Pageof 9
Lancet (London, England)|April 30, 1994
Analysis of limb reduction defects in babies exposed to chorionic villus samplingH V Firth, P A Boyd, P F Chamberlain, et al.
Annals of the New York Academy of Sciences|January 1, 1986
Evidence against linkage of von Recklinghausen neurofibromatosis and chromosome 19 markersS M Huson, A L Meredith, M Sarfarazi, et al.
Clinical Genetics|December 9, 2009
Further genotype--phenotype correlations in neurofibromatosis 2S K Selvanathan, A Shenton, R Ferner, et al.
Journal of Medical Genetics|April 1, 1994
Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?M S Fewtrell, P K Tam, A H Thomson, et al.
Neuromuscular Disorders : NMD|January 1, 1995
Recurrent congenital arthrogryposis leading to a diagnosis of myasthenia gravis in an initially asymptomatic motherP R Barnes, D J Kanabar, L Brueton, et al.
Journal of Musculoskeletal & Neuronal Interactions|March 1, 2013
Vitamin D status and muscle function in children with neurofibromatosis type 1 (NF1)C W Hockett, J Eelloo, S M Huson, et al.
Journal of Medical Genetics|February 20, 2007
Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplificationD Gareth R Evans, R T Ramsden, A Shenton, et al.
Journal of Medical Genetics|December 1, 1992
A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severityD G Evans, S M Huson, D Donnai, et al.
American Journal of Medical Genetics|October 1, 1993
Mesomelic limb shortness: a previously unreported autosomal recessive typeW Reardon, C M Hall, S Slaney, et al.
American Journal of Human Genetics|October 7, 2000
Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34A H Németh, E Bochukova, E Dunne, et al.
Pageof 9