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Journal of Medical Genetics
|
August 1, 1992
Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba Neonatal Screening Programme for Duchenne muscular dystrophy
C R Greenberg, H K Jacobs, T E Nylen, et al.
The Journal of Clinical Endocrinology and Metabolism
|
August 15, 2001
A comprehensive analysis of MNG1, TCO1, fPTC, PTEN, TSHR, and TRKA in familial nonmedullary thyroid cancer: confirmation of linkage to TCO1
S Bevan, T Pal, C R Greenberg, et al.
American Journal of Medical Genetics
|
October 23, 1997
Limb girdle muscular dystrophy in Manitoba Hutterites does not map to any of the known LGMD loci
T Weiler, C R Greenberg, E Nylen, et al.
The New England Journal of Medicine
|
May 8, 1998
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene
C A Stanley, Y K Lieu, B Y Hsu, et al.
Human Molecular Genetics
|
November 5, 1999
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia
G Zhou, Y Chen, L Zhou, et al.
Human Molecular Genetics
|
March 1, 1995
A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I
C R Greenberg, D Reimer, R Singal, et al.
American Journal of Human Genetics
|
March 31, 2000
Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene
L B Meira, J M Graham, C R Greenberg, et al.
Human Molecular Genetics
|
May 1, 1993
Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted
R Weksberg, I Teshima, B R Williams, et al.
Human Molecular Genetics
|
April 10, 1999
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)
T Weiler, R Bashir, L V Anderson, et al.
American Journal of Human Genetics
|
June 19, 1998
Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations
M A Carbone, N MacKay, M Ling, et al.
Page
of 11
Search research articles
Search
Showing results (81-90 of 105) with videos related to
Sort By:
Page
of 11
Journal of Medical Genetics
|
August 1, 1992
Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba Neonatal Screening Programme for Duchenne muscular dystrophy
C R Greenberg, H K Jacobs, T E Nylen, et al.
The Journal of Clinical Endocrinology and Metabolism
|
August 15, 2001
A comprehensive analysis of MNG1, TCO1, fPTC, PTEN, TSHR, and TRKA in familial nonmedullary thyroid cancer: confirmation of linkage to TCO1
S Bevan, T Pal, C R Greenberg, et al.
American Journal of Medical Genetics
|
October 23, 1997
Limb girdle muscular dystrophy in Manitoba Hutterites does not map to any of the known LGMD loci
T Weiler, C R Greenberg, E Nylen, et al.
The New England Journal of Medicine
|
May 8, 1998
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene
C A Stanley, Y K Lieu, B Y Hsu, et al.
Human Molecular Genetics
|
November 5, 1999
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia
G Zhou, Y Chen, L Zhou, et al.
Human Molecular Genetics
|
March 1, 1995
A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I
C R Greenberg, D Reimer, R Singal, et al.
American Journal of Human Genetics
|
March 31, 2000
Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene
L B Meira, J M Graham, C R Greenberg, et al.
Human Molecular Genetics
|
May 1, 1993
Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted
R Weksberg, I Teshima, B R Williams, et al.
Human Molecular Genetics
|
April 10, 1999
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)
T Weiler, R Bashir, L V Anderson, et al.
American Journal of Human Genetics
|
June 19, 1998
Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations
M A Carbone, N MacKay, M Ling, et al.
Page
of 11