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L Brueton

Showing results (11-20 of 22) with videos related to

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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.
Human Molecular Genetics|January 1, 1997
Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24A Gladwin, D Donnai, K Metcalfe, et al.
Irish Journal of Medical Science|June 4, 2008
Pregnancy and perinatal outcomes after assisted reproduction: a comparative studyC Allen, S Bowdin, R F Harrison, et al.
American Journal of Human Genetics|January 1, 1995
Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldismK Ezoe, S A Holmes, L Ho, et al.
American Journal of Medical Genetics|January 30, 1995
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X)R J Gibbons, L Brueton, V J Buckle, et al.
Clinical Dysmorphology|November 14, 1997
Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndromeJ Clayton-Smith, B Kerr, H Brunner, et al.
European Journal of Human Genetics : EJHG|January 1, 1996
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locusL J Pulleyn, W Reardon, D Wilkes, et al.
American Journal of Human Genetics|October 16, 1999
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasiaI Quack, B Vonderstrass, M Stock, et al.
Human Molecular Genetics|December 6, 2001
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophyV Viprakasit, R J Gibbons, B C Broughton, et al.
Molecular Genetics and Metabolism|October 1, 2011
Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like diseaseE Meyer, M A Kurian, N V Morgan, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
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.
Human Molecular Genetics|January 1, 1997
Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24A Gladwin, D Donnai, K Metcalfe, et al.
Irish Journal of Medical Science|June 4, 2008
Pregnancy and perinatal outcomes after assisted reproduction: a comparative studyC Allen, S Bowdin, R F Harrison, et al.
American Journal of Human Genetics|January 1, 1995
Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldismK Ezoe, S A Holmes, L Ho, et al.
American Journal of Medical Genetics|January 30, 1995
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X)R J Gibbons, L Brueton, V J Buckle, et al.
Clinical Dysmorphology|November 14, 1997
Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndromeJ Clayton-Smith, B Kerr, H Brunner, et al.
European Journal of Human Genetics : EJHG|January 1, 1996
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locusL J Pulleyn, W Reardon, D Wilkes, et al.
American Journal of Human Genetics|October 16, 1999
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasiaI Quack, B Vonderstrass, M Stock, et al.
Human Molecular Genetics|December 6, 2001
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophyV Viprakasit, R J Gibbons, B C Broughton, et al.
Molecular Genetics and Metabolism|October 1, 2011
Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like diseaseE Meyer, M A Kurian, N V Morgan, et al.
Pageof 3