David L. Rimoin
Cohn, Daniel H., Shapiro, Larry J., Kaback, Michael M.
Published in American journal of human genetics (07.09.2012)
Published in American journal of human genetics (07.09.2012)
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Journal Article
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals
Struewing, Jeffery P, Abeliovich, Dvorah, Peretz, Tamar, Avishai, Naaman, Kaback, Michael M, Collins, Francis S, Brody, Lawrence C
Published in Nature genetics (01.10.1995)
Published in Nature genetics (01.10.1995)
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Journal Article
20. Screening and prevention in Tay-Sachs disease: Origins, update, and impact
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Book Chapter
Journal Article
Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA
Wicklow, Brandy A., Ivanovich, Jennifer L., Plews, Margot M., Salo, Timothy J., Noetzel, Michael J., Lueder, Gregg T., Cartegni, Luca, Kaback, Michael M., Sandhoff, Konrad, Steiner, Robert D., Triggs-Raine, Barbara L.
Published in American journal of medical genetics. Part A (01.06.2004)
Published in American journal of medical genetics. Part A (01.06.2004)
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Journal Article
Eight novel mutations in the HEXA gene
Mcginniss, Matthew J., Brown, David H., Fulwiler, Andrea, Marten, Molly, Lim-Steele, Joyce S.T., Kaback, Michael M.
Published in Genetics in medicine (01.05.2002)
Published in Genetics in medicine (01.05.2002)
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Journal Article
Metachromatic leukodystrophy without arylsulfatase A deficiency
Shapiro, L J, Aleck, K A, Kaback, M M, Itabashi, H, Desnick, R J, Brand, N, Stevens, R L, Fluharty, A L, Kihara, H
Published in Pediatric research (01.10.1979)
Published in Pediatric research (01.10.1979)
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Journal Article
1. Tay-Sachs disease: From clinical description to molecular defect
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Book Chapter
Journal Article
SOME INFLUENCES ON PUBLIC PARTICIPATION IN A GENETIC SCREENING PROGRAM
Becker, Marshall H., Kaback, Michael M., Rosenstock, Irwin M., Ruth, Mary V.
Published in Journal of community health (01.10.1975)
Published in Journal of community health (01.10.1975)
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Journal Article