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M E Porteous

Showing results (21-30 of 35) with videos related to

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Genetic Counseling (Geneva, Switzerland)|July 17, 1998
Presymptomatic testing for Huntington's disease by linkage and by direct mutation analysis: comparison of uptake of testing and characteristics of test applicantsS M Holloway, M E Porteous, D R Fitzpatrick, et al.
Journal of Medical Genetics|October 1, 1991
The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritanceA O Wilkie, M E Pembrey, R J Gibbons, et al.
Journal of Clinical Pathology|March 17, 2001
Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation?J N Berg, J W Walter, U Thisanagayam, et al.
Clinical Genetics|October 25, 2007
Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancerR A Barnetson, L Devlin, J Miller, et al.
Human Molecular Genetics|October 1, 1995
Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor functionK A McAllister, M A Baldwin, A K Thukkani, et al.
Clinical Genetics|October 7, 1998
Life expectancy in British Marfan syndrome populationsJ R Gray, A B Bridges, R R West, et al.
Cell|November 18, 1994
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factorN G Pasteris, A Cadle, L J Logie, et al.
American Journal of Medical Genetics|February 5, 1998
Clinical phenotype of desmosterolosisD R FitzPatrick, J W Keeling, M J Evans, et al.
American Journal of Human Genetics|July 1, 1997
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2J N Berg, C J Gallione, T T Stenzel, et al.
Genome Research|August 1, 1995
A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12D W Johnson, J N Berg, C J Gallione, et al.
Pageof 4

Showing results (21-30 of 35) with videos related to

Sort By:
Pageof 4
Genetic Counseling (Geneva, Switzerland)|July 17, 1998
Presymptomatic testing for Huntington's disease by linkage and by direct mutation analysis: comparison of uptake of testing and characteristics of test applicantsS M Holloway, M E Porteous, D R Fitzpatrick, et al.
Journal of Medical Genetics|October 1, 1991
The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritanceA O Wilkie, M E Pembrey, R J Gibbons, et al.
Journal of Clinical Pathology|March 17, 2001
Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation?J N Berg, J W Walter, U Thisanagayam, et al.
Clinical Genetics|October 25, 2007
Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancerR A Barnetson, L Devlin, J Miller, et al.
Human Molecular Genetics|October 1, 1995
Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor functionK A McAllister, M A Baldwin, A K Thukkani, et al.
Clinical Genetics|October 7, 1998
Life expectancy in British Marfan syndrome populationsJ R Gray, A B Bridges, R R West, et al.
Cell|November 18, 1994
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factorN G Pasteris, A Cadle, L J Logie, et al.
American Journal of Medical Genetics|February 5, 1998
Clinical phenotype of desmosterolosisD R FitzPatrick, J W Keeling, M J Evans, et al.
American Journal of Human Genetics|July 1, 1997
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2J N Berg, C J Gallione, T T Stenzel, et al.
Genome Research|August 1, 1995
A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12D W Johnson, J N Berg, C J Gallione, et al.
Pageof 4