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Neuromuscular Disorders : NMD
|
May 5, 1998
Impaired cerebral glucose metabolism in myotonic dystrophy: a triplet-size dependent phenomenon
D Annane, M Fiorelli, B Mazoyer, et al.
American Journal of Human Genetics
|
May 1, 1982
Assignment of the human pro alpha 2(I) collagen structural gene (COLIA2) to chromosome 7 by molecular hybridization
C Junien, D Weil, J C Myers, et al.
Pharmacogenetics
|
August 16, 2001
Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinoma
C Gallou, S Longuemaux, C Deloménie, et al.
Cancer Research
|
June 26, 1999
Candidate genetic modifiers of individual susceptibility to renal cell carcinoma: a study of polymorphic human xenobiotic-metabolizing enzymes
S Longuemaux, C Deloménie, C Gallou, et al.
Journal of Medical Genetics
|
November 25, 2003
Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome
N Diaz-Meyer, C D Day, K Khatod, et al.
The Journal of Clinical Investigation
|
October 14, 1998
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia
V Verkarre, J C Fournet, P de Lonlay, et al.
Human Mutation
|
July 17, 1999
Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC
C Gallou, D Joly, A Méjean, et al.
Human Molecular Genetics
|
December 1, 2001
Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities
H Seznec, O Agbulut, N Sergeant, et al.
The New England Journal of Medicine
|
April 15, 1999
Clinical features of 52 neonates with hyperinsulinism
P de Lonlay-Debeney, F Poggi-Travert, J C Fournet, et al.
The American Journal of Pathology
|
June 8, 2001
Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11
J C Fournet, C Mayaud, P de Lonlay, et al.
Page
of 29
Search research articles
Search
Showing results (261-270 of 284) with videos related to
Sort By:
Page
of 29
Neuromuscular Disorders : NMD
|
May 5, 1998
Impaired cerebral glucose metabolism in myotonic dystrophy: a triplet-size dependent phenomenon
D Annane, M Fiorelli, B Mazoyer, et al.
American Journal of Human Genetics
|
May 1, 1982
Assignment of the human pro alpha 2(I) collagen structural gene (COLIA2) to chromosome 7 by molecular hybridization
C Junien, D Weil, J C Myers, et al.
Pharmacogenetics
|
August 16, 2001
Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinoma
C Gallou, S Longuemaux, C Deloménie, et al.
Cancer Research
|
June 26, 1999
Candidate genetic modifiers of individual susceptibility to renal cell carcinoma: a study of polymorphic human xenobiotic-metabolizing enzymes
S Longuemaux, C Deloménie, C Gallou, et al.
Journal of Medical Genetics
|
November 25, 2003
Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome
N Diaz-Meyer, C D Day, K Khatod, et al.
The Journal of Clinical Investigation
|
October 14, 1998
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia
V Verkarre, J C Fournet, P de Lonlay, et al.
Human Mutation
|
July 17, 1999
Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC
C Gallou, D Joly, A Méjean, et al.
Human Molecular Genetics
|
December 1, 2001
Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities
H Seznec, O Agbulut, N Sergeant, et al.
The New England Journal of Medicine
|
April 15, 1999
Clinical features of 52 neonates with hyperinsulinism
P de Lonlay-Debeney, F Poggi-Travert, J C Fournet, et al.
The American Journal of Pathology
|
June 8, 2001
Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11
J C Fournet, C Mayaud, P de Lonlay, et al.
Page
of 29