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M E Porteous

Showing results (11-20 of 35) with videos related to

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Journal of Medical Genetics|August 3, 2000
A family with hereditary port wine stainJ N Berg, A A Quaba, A Georgantopoulou, et al.
Headache|March 1, 1993
An association between migrainous aura and hereditary haemorrhagic telangiectasiaJ G Steele, P U Nath, J Burn, et al.
Journal of Medical Genetics|March 1, 1996
Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?J N Berg, A E Guttmacher, D A Marchuk, et al.
Human Molecular Genetics|February 1, 1994
Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patientsC Hayward, A L Rae, M E Porteous, et al.
Journal of Medical Genetics|December 1, 1994
Genetic heterogeneity in hereditary haemorrhagic telangiectasiaM E Porteous, A Curtis, O Williams, et al.
Journal of Medical Genetics|May 23, 1998
Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2M E Porteous, L Strain, L J Logie, et al.
Archives of Disease in Childhood|May 1, 1994
Alpha thalassaemia mental retardation (ATR-X): an atypical familyL J Logie, R J Gibbons, D R Higgs, et al.
Familial Cancer|April 5, 2008
Cascade genetic testing for mismatch repair gene mutationsR J Mitchell, R K Ferguson, A Macdonald, et al.
Genomics|October 1, 1992
The gene for Aarskog syndrome is located between DXS255 and DXS566 (Xp11.2-Xq13)M E Porteous, A Curtis, S Lindsay, et al.
Prenatal Diagnosis|June 1, 1994
Prenatal diagnosis of fragile X syndrome: management of the male fetus with a premutationL Strain, M E Porteous, C M Gosden, et al.
Pageof 4

Showing results (11-20 of 35) with videos related to

Sort By:
Pageof 4
Journal of Medical Genetics|August 3, 2000
A family with hereditary port wine stainJ N Berg, A A Quaba, A Georgantopoulou, et al.
Headache|March 1, 1993
An association between migrainous aura and hereditary haemorrhagic telangiectasiaJ G Steele, P U Nath, J Burn, et al.
Journal of Medical Genetics|March 1, 1996
Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?J N Berg, A E Guttmacher, D A Marchuk, et al.
Human Molecular Genetics|February 1, 1994
Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patientsC Hayward, A L Rae, M E Porteous, et al.
Journal of Medical Genetics|December 1, 1994
Genetic heterogeneity in hereditary haemorrhagic telangiectasiaM E Porteous, A Curtis, O Williams, et al.
Journal of Medical Genetics|May 23, 1998
Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2M E Porteous, L Strain, L J Logie, et al.
Archives of Disease in Childhood|May 1, 1994
Alpha thalassaemia mental retardation (ATR-X): an atypical familyL J Logie, R J Gibbons, D R Higgs, et al.
Familial Cancer|April 5, 2008
Cascade genetic testing for mismatch repair gene mutationsR J Mitchell, R K Ferguson, A Macdonald, et al.
Genomics|October 1, 1992
The gene for Aarskog syndrome is located between DXS255 and DXS566 (Xp11.2-Xq13)M E Porteous, A Curtis, S Lindsay, et al.
Prenatal Diagnosis|June 1, 1994
Prenatal diagnosis of fragile X syndrome: management of the male fetus with a premutationL Strain, M E Porteous, C M Gosden, et al.
Pageof 4