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M E Porteous

Showing results (1-10 of 35) with videos related to

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Journal of Medical Genetics|May 1, 1990
Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitaliaM E Porteous, J Burn
Archives of Disease in Childhood|January 6, 1999
Intelligence and development in Aarskog syndromeL J Logie, M E Porteous
Journal of Medical Genetics|January 1, 1991
Aarskog syndromeM E Porteous, D R Goudie
American Journal of Medical Genetics|August 1, 1992
VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies?M E Porteous, I Cross, J Burn
Journal of Medical Genetics|August 1, 1992
Hereditary haemorrhagic telangiectasia: a clinical analysisM E Porteous, J Burn, S J Proctor
Molecular and Cellular Probes|August 1, 1994
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactylyC Hayward, M E Porteous, D J Brock
Human Mutation|January 1, 1997
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutationsC Hayward, M E Porteous, D J Brock
Human Mutation|January 1, 1994
Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniquesC Hayward, M E Porteous, D J Brock
Clinical Dysmorphology|April 1, 1993
Agnathia-holoprosencephaly: a new recessive syndrome?M E Porteous, C Wright, D Smith, et al.
Clinical Genetics|December 1, 1996
Further evidence of genetic heterogeneity in hereditary hydronephrosisD McHale, M E Porteous, J Wentzel, et al.
Pageof 4

Showing results (1-10 of 35) with videos related to

Sort By:
Pageof 4
Journal of Medical Genetics|May 1, 1990
Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitaliaM E Porteous, J Burn
Archives of Disease in Childhood|January 6, 1999
Intelligence and development in Aarskog syndromeL J Logie, M E Porteous
Journal of Medical Genetics|January 1, 1991
Aarskog syndromeM E Porteous, D R Goudie
American Journal of Medical Genetics|August 1, 1992
VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies?M E Porteous, I Cross, J Burn
Journal of Medical Genetics|August 1, 1992
Hereditary haemorrhagic telangiectasia: a clinical analysisM E Porteous, J Burn, S J Proctor
Molecular and Cellular Probes|August 1, 1994
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactylyC Hayward, M E Porteous, D J Brock
Human Mutation|January 1, 1997
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutationsC Hayward, M E Porteous, D J Brock
Human Mutation|January 1, 1994
Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniquesC Hayward, M E Porteous, D J Brock
Clinical Dysmorphology|April 1, 1993
Agnathia-holoprosencephaly: a new recessive syndrome?M E Porteous, C Wright, D Smith, et al.
Clinical Genetics|December 1, 1996
Further evidence of genetic heterogeneity in hereditary hydronephrosisD McHale, M E Porteous, J Wentzel, et al.
Pageof 4