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Molecular Genetics and Metabolism
|
April 5, 2001
Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH)
J R Toone, D A Applegarth, M B Coulter-Mackie, et al.
The Biochemical Journal
|
December 15, 1992
Purification and structure of human liver aspartylglucosaminidase
J W Rip, M B Coulter-Mackie, C A Rupar, et al.
Journal of Medical Genetics
|
November 1, 1991
A genetic study of neurofibromatosis 1 in south-western Ontario. I. Population, familial segregation of phenotype, and molecular linkage
D I Rodenhiser, M B Coulter-Mackie, J H Jung, et al.
Molecular Genetics and Metabolism
|
June 30, 2000
Biochemical and molecular investigations of patients with nonketotic hyperglycinemia
J R Toone, D A Applegarth, M B Coulter-Mackie, et al.
Human Mutation
|
January 4, 2001
Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia
J R Toone, D A Applegarth, M B Coulter-Mackie, et al.
Pediatric Neurology
|
October 6, 2000
Variable onset of metachromatic leukodystrophy in a Vietnamese family
L T Arbour, K Silver, P Hechtman, et al.
Human Genetics
|
April 1, 1991
A method for transforming lymphocytes from very small blood volumes suitable for paediatric samples
J Elliott, M B Coulter-Mackie, J H Jung, et al.
Journal of Medical Genetics
|
May 1, 1993
A genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II. A PCR based approach to molecular and prenatal diagnosis using linkage
D I Rodenhiser, P J Ainsworth, M B Coulter-Mackie, et al.
Journal of Medical Genetics
|
June 1, 1997
Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene
M B Coulter-Mackie, L Gagnier, M J Beis, et al.
Clinical and Investigative Medicine. Medecine Clinique Et Experimentale
|
June 17, 1998
Aspartylglucosaminuria in a Canadian family
B A Gordon, C A Rupar, J W Rip, et al.
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of 2
Search research articles
Search
Showing results (11-20 of 20) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 20 results.
Molecular Genetics and Metabolism
|
April 5, 2001
Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH)
J R Toone, D A Applegarth, M B Coulter-Mackie, et al.
The Biochemical Journal
|
December 15, 1992
Purification and structure of human liver aspartylglucosaminidase
J W Rip, M B Coulter-Mackie, C A Rupar, et al.
Journal of Medical Genetics
|
November 1, 1991
A genetic study of neurofibromatosis 1 in south-western Ontario. I. Population, familial segregation of phenotype, and molecular linkage
D I Rodenhiser, M B Coulter-Mackie, J H Jung, et al.
Molecular Genetics and Metabolism
|
June 30, 2000
Biochemical and molecular investigations of patients with nonketotic hyperglycinemia
J R Toone, D A Applegarth, M B Coulter-Mackie, et al.
Human Mutation
|
January 4, 2001
Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia
J R Toone, D A Applegarth, M B Coulter-Mackie, et al.
Pediatric Neurology
|
October 6, 2000
Variable onset of metachromatic leukodystrophy in a Vietnamese family
L T Arbour, K Silver, P Hechtman, et al.
Human Genetics
|
April 1, 1991
A method for transforming lymphocytes from very small blood volumes suitable for paediatric samples
J Elliott, M B Coulter-Mackie, J H Jung, et al.
Journal of Medical Genetics
|
May 1, 1993
A genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II. A PCR based approach to molecular and prenatal diagnosis using linkage
D I Rodenhiser, P J Ainsworth, M B Coulter-Mackie, et al.
Journal of Medical Genetics
|
June 1, 1997
Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene
M B Coulter-Mackie, L Gagnier, M J Beis, et al.
Clinical and Investigative Medicine. Medecine Clinique Et Experimentale
|
June 17, 1998
Aspartylglucosaminuria in a Canadian family
B A Gordon, C A Rupar, J W Rip, et al.
Page
of 2