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R J Pomponio

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Nucleic Acids Research|August 11, 1991
Molecular diagnosis of sex chromosome aneuploidy using quantitative PCRG L Mutter, R J Pomponio
Fertility and Sterility|February 1, 1993
The sex ratio of normal and manipulated human sperm quantitated by the polymerase chain reactionS M Lobel, R J Pomponio, G L Mutter
Pediatric Research|July 10, 1999
Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic childrenK J Norrgard, R J Pomponio, J Hymes, et al.
Journal of Inherited Metabolic Disease|May 9, 2000
Novel mutations in children with profound biotinidase deficiency from Saudi ArabiaR J Pomponio, P T Ozand, M Al Essa, et al.
Molecular Genetics and Metabolism|August 15, 1998
Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiencyR J Pomponio, A Yamaguchi, S Arashima, et al.
Nucleic Acids Research|June 11, 1991
Testis-specific expression of the human MYCL2 geneN G Robertson, R J Pomponio, G L Mutter, et al.
American Journal of Human Genetics|November 1, 1993
Oppositely imprinted genes H19 and insulin-like growth factor 2 are coexpressed in human androgenetic trophoblastG L Mutter, C L Stewart, M L Chaponot, et al.
American Journal of Obstetrics and Gynecology|May 1, 1993
Sex chromosome composition of complete hydatidiform moles: relationship to metastasisG L Mutter, R J Pomponio, R S Berkowitz, et al.
Nature Genetics|September 1, 1995
Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiencyR J Pomponio, T R Reynolds, H Cole, et al.
Molecular Genetics and Metabolism|September 28, 2005
Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populationsR J Pomponio, M A Cabrera-Salazar, O Y Echeverri, et al.
Pageof 3

Showing results (1-10 of 25) with videos related to

Sort By:
Pageof 3
Nucleic Acids Research|August 11, 1991
Molecular diagnosis of sex chromosome aneuploidy using quantitative PCRG L Mutter, R J Pomponio
Fertility and Sterility|February 1, 1993
The sex ratio of normal and manipulated human sperm quantitated by the polymerase chain reactionS M Lobel, R J Pomponio, G L Mutter
Pediatric Research|July 10, 1999
Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic childrenK J Norrgard, R J Pomponio, J Hymes, et al.
Journal of Inherited Metabolic Disease|May 9, 2000
Novel mutations in children with profound biotinidase deficiency from Saudi ArabiaR J Pomponio, P T Ozand, M Al Essa, et al.
Molecular Genetics and Metabolism|August 15, 1998
Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiencyR J Pomponio, A Yamaguchi, S Arashima, et al.
Nucleic Acids Research|June 11, 1991
Testis-specific expression of the human MYCL2 geneN G Robertson, R J Pomponio, G L Mutter, et al.
American Journal of Human Genetics|November 1, 1993
Oppositely imprinted genes H19 and insulin-like growth factor 2 are coexpressed in human androgenetic trophoblastG L Mutter, C L Stewart, M L Chaponot, et al.
American Journal of Obstetrics and Gynecology|May 1, 1993
Sex chromosome composition of complete hydatidiform moles: relationship to metastasisG L Mutter, R J Pomponio, R S Berkowitz, et al.
Nature Genetics|September 1, 1995
Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiencyR J Pomponio, T R Reynolds, H Cole, et al.
Molecular Genetics and Metabolism|September 28, 2005
Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populationsR J Pomponio, M A Cabrera-Salazar, O Y Echeverri, et al.
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