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W J Craigen

Showing results (41-50 of 53) with videos related to

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Pediatric Neurology|February 1, 1994
D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunctionW J Craigen, C Jakobs, E A Sekul, et al.
Gene|October 31, 1996
Ahch, the mouse homologue of DAX1: cloning, characterization and synteny with GyK, the glycerol kinase locusW Guo, R S Lovell, Y H Zhang, et al.
Genomics|September 15, 1996
Isolation, mapping, and functional expression of the mouse X chromosome glycerol kinase geneA H Huq, R S Lovell, M J Sampson, et al.
Human Mutation|September 27, 2002
PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13M Maheshwari, J Belmont, S Fernbach, et al.
American Journal of Human Genetics|August 1, 1997
A submicroscopic deletion in Xq26 associated with familial situs ambiguusG B Ferrero, M Gebbia, G Pilia, et al.
Clinical Chemistry|February 1, 1990
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new casesK M Gibson, C F Lee, V Kamali, et al.
Clinical Genetics|October 16, 2016
FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndromeH Dai, V W Zhang, A W El-Hattab, et al.
Journal of Medical Genetics|February 4, 2009
Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genesS M Ware, N El-Hassan, S G Kahler, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 24, 2004
Serum leptin level is a regulator of bone massF Elefteriou, S Takeda, K Ebihara, et al.
Clinical Genetics|October 6, 2007
Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridizationN Brunetti-Pierri, D K Grange, Z Ou, et al.
Pageof 6

Showing results (41-50 of 53) with videos related to

Sort By:
Pageof 6
Pediatric Neurology|February 1, 1994
D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunctionW J Craigen, C Jakobs, E A Sekul, et al.
Gene|October 31, 1996
Ahch, the mouse homologue of DAX1: cloning, characterization and synteny with GyK, the glycerol kinase locusW Guo, R S Lovell, Y H Zhang, et al.
Genomics|September 15, 1996
Isolation, mapping, and functional expression of the mouse X chromosome glycerol kinase geneA H Huq, R S Lovell, M J Sampson, et al.
Human Mutation|September 27, 2002
PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13M Maheshwari, J Belmont, S Fernbach, et al.
American Journal of Human Genetics|August 1, 1997
A submicroscopic deletion in Xq26 associated with familial situs ambiguusG B Ferrero, M Gebbia, G Pilia, et al.
Clinical Chemistry|February 1, 1990
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new casesK M Gibson, C F Lee, V Kamali, et al.
Clinical Genetics|October 16, 2016
FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndromeH Dai, V W Zhang, A W El-Hattab, et al.
Journal of Medical Genetics|February 4, 2009
Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genesS M Ware, N El-Hassan, S G Kahler, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 24, 2004
Serum leptin level is a regulator of bone massF Elefteriou, S Takeda, K Ebihara, et al.
Clinical Genetics|October 6, 2007
Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridizationN Brunetti-Pierri, D K Grange, Z Ou, et al.
Pageof 6