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Human Genetics|April 1, 1986

Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]J W Moore, S Hyman, S E Antonarakis, et al.

American Journal of Human Genetics|April 1, 1992

Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individualsE H Mules, S Hayflick, C S Miller, et al.

American Journal of Human Genetics|June 11, 1991

A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patientsE H Mules, C E Dowling, M B Petersen, et al.

Human Mutation|January 1, 1992

Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania DutchE H Mules, S Hayflick, C E Dowling, et al.

The Journal of Cell Biology|March 27, 2001

Rab27a is required for regulated secretion in cytotoxic T lymphocytesJ C Stinchcombe, D C Barral, E H Mules, et al.

American Journal of Human Genetics|October 1, 1992

A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screeningB L Triggs-Raine, E H Mules, M M Kaback, et al.

Human Mutation|January 1, 1992

A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studiesB R Akerman, J Zielenski, B L Triggs-Raine, et al.

Proceedings of the National Academy of Sciences of the United States of America|March 29, 2000

Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesisJ C Detter, Q Zhang, E H Mules, et al.

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Showing results (11-20 of 18) with videos related to

Sort By:

Pageof 2

You have reached the last page of results.This site can display upto 18 results.

Human Genetics|April 1, 1986

Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]J W Moore, S Hyman, S E Antonarakis, et al.

American Journal of Human Genetics|April 1, 1992

Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individualsE H Mules, S Hayflick, C S Miller, et al.

American Journal of Human Genetics|June 11, 1991

A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patientsE H Mules, C E Dowling, M B Petersen, et al.

Human Mutation|January 1, 1992

Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania DutchE H Mules, S Hayflick, C E Dowling, et al.

The Journal of Cell Biology|March 27, 2001

Rab27a is required for regulated secretion in cytotoxic T lymphocytesJ C Stinchcombe, D C Barral, E H Mules, et al.

American Journal of Human Genetics|October 1, 1992

A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screeningB L Triggs-Raine, E H Mules, M M Kaback, et al.

Human Mutation|January 1, 1992

A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studiesB R Akerman, J Zielenski, B L Triggs-Raine, et al.

Proceedings of the National Academy of Sciences of the United States of America|March 29, 2000

Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesisJ C Detter, Q Zhang, E H Mules, et al.

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