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R D Steiner

Showing results (21-30 of 41) with videos related to

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American Journal of Medical Genetics|January 8, 1999
Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndromeL O Atchaneeyasakul, L M Linck, W E Connor, et al.
Developmental Neuropsychology|January 6, 2001
Interhemispheric interaction during childhood: II. Children with early-treated phenylketonuriaM T Banich, A M Passarotti, D A White, et al.
Journal of Inherited Metabolic Disease|July 24, 2008
Correlates of language impairment in children with galactosaemiaN L Potter, J-A C Lazarus, J M Johnson, et al.
The Journal of Pediatrics|December 13, 2000
Risk factors for premature ovarian failure in females with galactosemiaN V Guerrero, R H Singh, A Manatunga, et al.
Journal of Inherited Metabolic Disease|February 22, 2000
Increased urine heparan and chondroitin sulphate excretion in patients with osteopetrosisR D Steiner, M P Whyte, E Chang, et al.
Genetic Testing|January 11, 2000
A simple PCR-based assay allows detection of a common mutation, IVS8-1G-->C, in DHCR7 in Smith-Lemli-Opitz syndromeK P Battaile, C L Maslen, C A Wassif, et al.
The Journal of Pediatrics|February 1, 1996
Nonketotic hyperglycinemia: atypical clinical and biochemical manifestationsR D Steiner, D A Sweetser, J R Rohrbaugh, et al.
The Journal of Pediatrics|March 10, 2001
Ophthalmic drops causing coma in an infantR J Berlin, U T Lee, J R Samples, et al.
American Journal of Human Genetics|June 23, 1998
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndromeC A Wassif, C Maslen, S Kachilele-Linjewile, et al.
The Journal of Clinical Investigation|October 1, 1994
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal deathJ C Brackett, H F Sims, R D Steiner, et al.
Pageof 5

Showing results (21-30 of 41) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics|January 8, 1999
Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndromeL O Atchaneeyasakul, L M Linck, W E Connor, et al.
Developmental Neuropsychology|January 6, 2001
Interhemispheric interaction during childhood: II. Children with early-treated phenylketonuriaM T Banich, A M Passarotti, D A White, et al.
Journal of Inherited Metabolic Disease|July 24, 2008
Correlates of language impairment in children with galactosaemiaN L Potter, J-A C Lazarus, J M Johnson, et al.
The Journal of Pediatrics|December 13, 2000
Risk factors for premature ovarian failure in females with galactosemiaN V Guerrero, R H Singh, A Manatunga, et al.
Journal of Inherited Metabolic Disease|February 22, 2000
Increased urine heparan and chondroitin sulphate excretion in patients with osteopetrosisR D Steiner, M P Whyte, E Chang, et al.
Genetic Testing|January 11, 2000
A simple PCR-based assay allows detection of a common mutation, IVS8-1G-->C, in DHCR7 in Smith-Lemli-Opitz syndromeK P Battaile, C L Maslen, C A Wassif, et al.
The Journal of Pediatrics|February 1, 1996
Nonketotic hyperglycinemia: atypical clinical and biochemical manifestationsR D Steiner, D A Sweetser, J R Rohrbaugh, et al.
The Journal of Pediatrics|March 10, 2001
Ophthalmic drops causing coma in an infantR J Berlin, U T Lee, J R Samples, et al.
American Journal of Human Genetics|June 23, 1998
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndromeC A Wassif, C Maslen, S Kachilele-Linjewile, et al.
The Journal of Clinical Investigation|October 1, 1994
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal deathJ C Brackett, H F Sims, R D Steiner, et al.
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