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T E Kelly

Showing results (91-100 of 103) with videos related to

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Clinical Genetics|March 1, 1977
Ganglioside GM2 N-acetyl-beta-D-galactosaminidase and asialo GM2 (GA2) N-acetyl-beta-D-galactosaminidase; studies in human skin fibroblastsJ S O'Brien, G W Norden, A L Miller, et al.
Pediatrics|February 1, 1983
Familial Hirschsprung's disease and type D brachydactyly: a report of four affected males in two generationsJ F Reynolds, J C Barber, B A Alford, et al.
American Journal of Diseases of Children (1960)|August 1, 1981
Mucolipidosis I (acid neuraminidase deficiency). Three cases and delineation of the variability of the phenotypeT E Kelly, L Bartoshesky, D J Harris, et al.
Neurology|February 1, 1982
Dandy-walker syndrome diagnosed in utero by ultrasonographyG C Newman, A I Buschi, N K Sugg, et al.
Cytogenetics and Cell Genetics|January 1, 1984
X;Y translocation in a female with streak gonads, H-Y- phenotype, and some features of Turner's syndromeT E Kelly, S S Wachtel, L Cahill, et al.
American Journal of Human Genetics|September 1, 1980
Interstitial 3p deletion in a child due to paternal paracentric inserted inversionH E Wyandt, R Kasprzak, J Ennis, et al.
American Journal of Human Genetics|June 1, 1996
Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversionV Shashi, W L Golden, P S Allinson, et al.
American Journal of Medical Genetics|September 1, 1983
Trisomy 18/trisomy 13 mosaicism in an adult with profound mental retardation and multiple malformationsW G Wilson, M A Shires, K A Willson, 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.
Nature Genetics|January 4, 2001
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3C L Bennett, J Christie, F Ramsdell, et al.
Pageof 11

Showing results (91-100 of 103) with videos related to

Sort By:
Pageof 11
Clinical Genetics|March 1, 1977
Ganglioside GM2 N-acetyl-beta-D-galactosaminidase and asialo GM2 (GA2) N-acetyl-beta-D-galactosaminidase; studies in human skin fibroblastsJ S O'Brien, G W Norden, A L Miller, et al.
Pediatrics|February 1, 1983
Familial Hirschsprung's disease and type D brachydactyly: a report of four affected males in two generationsJ F Reynolds, J C Barber, B A Alford, et al.
American Journal of Diseases of Children (1960)|August 1, 1981
Mucolipidosis I (acid neuraminidase deficiency). Three cases and delineation of the variability of the phenotypeT E Kelly, L Bartoshesky, D J Harris, et al.
Neurology|February 1, 1982
Dandy-walker syndrome diagnosed in utero by ultrasonographyG C Newman, A I Buschi, N K Sugg, et al.
Cytogenetics and Cell Genetics|January 1, 1984
X;Y translocation in a female with streak gonads, H-Y- phenotype, and some features of Turner's syndromeT E Kelly, S S Wachtel, L Cahill, et al.
American Journal of Human Genetics|September 1, 1980
Interstitial 3p deletion in a child due to paternal paracentric inserted inversionH E Wyandt, R Kasprzak, J Ennis, et al.
American Journal of Human Genetics|June 1, 1996
Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversionV Shashi, W L Golden, P S Allinson, et al.
American Journal of Medical Genetics|September 1, 1983
Trisomy 18/trisomy 13 mosaicism in an adult with profound mental retardation and multiple malformationsW G Wilson, M A Shires, K A Willson, 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.
Nature Genetics|January 4, 2001
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3C L Bennett, J Christie, F Ramsdell, et al.
Pageof 11