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The Journal of Pediatrics
|
January 1, 1991
Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds
J C Haworth, F A Booth, A E Chudley, et al.
Molecular Genetics and Metabolism
|
February 5, 2002
Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada
C R Greenberg, A N Prasad, L A Dilling, et al.
Clinical Genetics
|
May 29, 2009
Cytogenetic microarrays in Manitoba patients with developmental delay
A J Dawson, D Riordan, M Tomiuk, et al.
Nature Genetics
|
March 18, 1999
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
G Bonne, M R Di Barletta, S Varnous, et al.
Molecular Genetics and Metabolism
|
May 15, 2001
Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community
C Prip-Buus, L Thuillier, N Abadi, et al.
American Journal of Medical Genetics. Part A
|
July 3, 2003
Bowen-Conradi syndrome: a clinical and genetic study
R B Lowry, A M Innes, F P Bernier, et al.
Molecular Genetics and Metabolism
|
May 15, 2001
Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program
C Prasad, J P Johnson, J P Bonnefont, et al.
Journal of Inherited Metabolic Disease
|
September 14, 2002
Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency
H L Levy, J E Vargas, S E Waisbren, et al.
American Journal of Human Genetics
|
September 5, 2001
Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2
L S Schmidt, M B Warren, M L Nickerson, et al.
Human Molecular Genetics
|
February 1, 1997
Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses
S S Chong, E Almqvist, H Telenius, et al.
Page
of 11
Search research articles
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Showing results (91-100 of 105) with videos related to
Sort By:
Page
of 11
The Journal of Pediatrics
|
January 1, 1991
Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds
J C Haworth, F A Booth, A E Chudley, et al.
Molecular Genetics and Metabolism
|
February 5, 2002
Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada
C R Greenberg, A N Prasad, L A Dilling, et al.
Clinical Genetics
|
May 29, 2009
Cytogenetic microarrays in Manitoba patients with developmental delay
A J Dawson, D Riordan, M Tomiuk, et al.
Nature Genetics
|
March 18, 1999
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
G Bonne, M R Di Barletta, S Varnous, et al.
Molecular Genetics and Metabolism
|
May 15, 2001
Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community
C Prip-Buus, L Thuillier, N Abadi, et al.
American Journal of Medical Genetics. Part A
|
July 3, 2003
Bowen-Conradi syndrome: a clinical and genetic study
R B Lowry, A M Innes, F P Bernier, et al.
Molecular Genetics and Metabolism
|
May 15, 2001
Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program
C Prasad, J P Johnson, J P Bonnefont, et al.
Journal of Inherited Metabolic Disease
|
September 14, 2002
Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency
H L Levy, J E Vargas, S E Waisbren, et al.
American Journal of Human Genetics
|
September 5, 2001
Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2
L S Schmidt, M B Warren, M L Nickerson, et al.
Human Molecular Genetics
|
February 1, 1997
Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses
S S Chong, E Almqvist, H Telenius, et al.
Page
of 11