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Human Mutation
|
April 24, 2001
Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection
K A O'Donnell, O Tighe, C O'Neill, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
April 22, 2008
Thyroid dysfunction in Down's syndrome and screening for hypothyroidism in children and adolescents using capillary TSH measurement
J Murphy, M Philip, S Macken, et al.
Irish Medical Journal
|
December 6, 2006
Mitochondrial cytopathies, phenotypic heterogeneity and a high incidence
E Ryan, M D King, P Rustin, et al.
Atherosclerosis
|
November 1, 1993
Cholesterol-lowering drug therapy in a patient with receptor-negative homozygous familial hypercholesterolaemia
M D Feher, J C Webb, D D Patel, et al.
Journal of Inherited Metabolic Disease
|
August 9, 2012
Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment
K P Coss, P P Doran, C Owoeye, et al.
American Journal of Medical Genetics
|
August 10, 1999
Methylenetetrahydrofolate reductase thermolabile variant and oral clefts
J L Mills, P N Kirke, A M Molloy, et al.
Heredity
|
July 30, 2009
The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations
J M Flanagan, G McMahon, S H Brendan Chia, et al.
Page
of 5
Search research articles
Search
Showing results (41-50 of 47) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 47 results.
Human Mutation
|
April 24, 2001
Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection
K A O'Donnell, O Tighe, C O'Neill, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
April 22, 2008
Thyroid dysfunction in Down's syndrome and screening for hypothyroidism in children and adolescents using capillary TSH measurement
J Murphy, M Philip, S Macken, et al.
Irish Medical Journal
|
December 6, 2006
Mitochondrial cytopathies, phenotypic heterogeneity and a high incidence
E Ryan, M D King, P Rustin, et al.
Atherosclerosis
|
November 1, 1993
Cholesterol-lowering drug therapy in a patient with receptor-negative homozygous familial hypercholesterolaemia
M D Feher, J C Webb, D D Patel, et al.
Journal of Inherited Metabolic Disease
|
August 9, 2012
Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment
K P Coss, P P Doran, C Owoeye, et al.
American Journal of Medical Genetics
|
August 10, 1999
Methylenetetrahydrofolate reductase thermolabile variant and oral clefts
J L Mills, P N Kirke, A M Molloy, et al.
Heredity
|
July 30, 2009
The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations
J M Flanagan, G McMahon, S H Brendan Chia, et al.
Page
of 5