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F D Porter

Showing results (21-30 of 35) with videos related to

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Nature Genetics|April 1, 1997
Hypogonadism and obesity in mice with a targeted deletion of the Nhlh2 geneD J Good, F D Porter, K A Mahon, et al.
Neurology|January 6, 2011
Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional studyN Mattsson, H Zetterberg, S Bianconi, et al.
American Journal of Medical Genetics|September 20, 2001
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotypeM J Nowaczyk, S A Farrell, W L Sirkin, et al.
Cell Death & Disease|March 18, 2016
Necroptosis in Niemann-Pick disease, type C1: a potential therapeutic targetA Cougnoux, C Cluzeau, S Mitra, 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.
Neuroscience|July 31, 2010
Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndromeG J Patti, L P Shriver, C A Wassif, et al.
Journal of Inherited Metabolic Disease|February 7, 2014
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndromeS E Sparks, C A Wassif, H Goodwin, et al.
American Journal of Medical Genetics|September 20, 2000
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotypingP A Krakowiak, N A Nwokoro, C A Wassif, et al.
Clinical Genetics|June 25, 2013
Pregnancy in an individual with mild Smith-Lemli-Opitz syndromeM S Ellingson, M J Wick, W M White, et al.
Clinical Genetics|May 13, 2014
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data setsJ L Cross, J Iben, C L Simpson, et al.
Pageof 4

Showing results (21-30 of 35) with videos related to

Sort By:
Pageof 4
Nature Genetics|April 1, 1997
Hypogonadism and obesity in mice with a targeted deletion of the Nhlh2 geneD J Good, F D Porter, K A Mahon, et al.
Neurology|January 6, 2011
Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional studyN Mattsson, H Zetterberg, S Bianconi, et al.
American Journal of Medical Genetics|September 20, 2001
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotypeM J Nowaczyk, S A Farrell, W L Sirkin, et al.
Cell Death & Disease|March 18, 2016
Necroptosis in Niemann-Pick disease, type C1: a potential therapeutic targetA Cougnoux, C Cluzeau, S Mitra, 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.
Neuroscience|July 31, 2010
Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndromeG J Patti, L P Shriver, C A Wassif, et al.
Journal of Inherited Metabolic Disease|February 7, 2014
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndromeS E Sparks, C A Wassif, H Goodwin, et al.
American Journal of Medical Genetics|September 20, 2000
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotypingP A Krakowiak, N A Nwokoro, C A Wassif, et al.
Clinical Genetics|June 25, 2013
Pregnancy in an individual with mild Smith-Lemli-Opitz syndromeM S Ellingson, M J Wick, W M White, et al.
Clinical Genetics|May 13, 2014
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data setsJ L Cross, J Iben, C L Simpson, et al.
Pageof 4