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F D Porter

Showing results (11-20 of 35) with videos related to

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American Journal of Medical Genetics|December 18, 2001
Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndromeM J Nowaczyk, V M Siu, P A Krakowiak, et al.
Biochemical and Biophysical Research Communications|April 14, 1989
Separation and identification of two phosphatidylinositol 4-kinase activities in bovine uterusY S Li, F D Porter, R M Hoffman, et al.
The Journal of Biological Chemistry|December 23, 1999
Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV miceA Forlino, F D Porter, E J Lee, et al.
American Journal of Medical Genetics|August 15, 2001
Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndromeM J Nowaczyk, L M Nakamura, B Eng, et al.
Molecular Genetics and Metabolism|November 6, 2018
Necroptosis inhibition as a therapy for Niemann-Pick disease, type C1: Inhibition of RIP kinases and combination therapy with 2-hydroxypropyl-β-cyclodextrinA Cougnoux, S Clifford, A Salman, et al.
Journal of the American Academy of Child and Adolescent Psychiatry|May 15, 2001
Smith-Lemli-Opitz syndromeA Martin, K Koenig, L Scahill, et al.
Mechanisms of Development|May 20, 1999
Characterization of Lhx9, a novel LIM/homeobox gene expressed by the pioneer neurons in the mouse cerebral cortexS Bertuzzi, F D Porter, A Pitts, et al.
American Journal of Medical Genetics. Part A|June 14, 2005
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patientsF B Scalco, L S Correa-Cerro, C A Wassif, 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.
American Journal of Medical Genetics|February 27, 2001
Behavior phenotype in the RSH/Smith-Lemli-Opitz syndromeE Tierney, N A Nwokoro, F D Porter, et al.
Pageof 4

Showing results (11-20 of 35) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics|December 18, 2001
Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndromeM J Nowaczyk, V M Siu, P A Krakowiak, et al.
Biochemical and Biophysical Research Communications|April 14, 1989
Separation and identification of two phosphatidylinositol 4-kinase activities in bovine uterusY S Li, F D Porter, R M Hoffman, et al.
The Journal of Biological Chemistry|December 23, 1999
Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV miceA Forlino, F D Porter, E J Lee, et al.
American Journal of Medical Genetics|August 15, 2001
Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndromeM J Nowaczyk, L M Nakamura, B Eng, et al.
Molecular Genetics and Metabolism|November 6, 2018
Necroptosis inhibition as a therapy for Niemann-Pick disease, type C1: Inhibition of RIP kinases and combination therapy with 2-hydroxypropyl-β-cyclodextrinA Cougnoux, S Clifford, A Salman, et al.
Journal of the American Academy of Child and Adolescent Psychiatry|May 15, 2001
Smith-Lemli-Opitz syndromeA Martin, K Koenig, L Scahill, et al.
Mechanisms of Development|May 20, 1999
Characterization of Lhx9, a novel LIM/homeobox gene expressed by the pioneer neurons in the mouse cerebral cortexS Bertuzzi, F D Porter, A Pitts, et al.
American Journal of Medical Genetics. Part A|June 14, 2005
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patientsF B Scalco, L S Correa-Cerro, C A Wassif, 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.
American Journal of Medical Genetics|February 27, 2001
Behavior phenotype in the RSH/Smith-Lemli-Opitz syndromeE Tierney, N A Nwokoro, F D Porter, et al.
Pageof 4