Results
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101.
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A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. [electronic resource] by
- Nestorowicz, A
- Inagaki, N
- Gonoi, T
- Schoor, K P
- Wilson, B A
- Glaser, B
- Landau, H
- Stanley, C A
- Thornton, P S
- Seino, S
- Permutt, M A
Producer: 19971121
In:
Diabetes vol. 46
Availability: No items available.
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102.
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Calcium-stimulated insulin secretion in diffuse and focal forms of congenital hyperinsulinism. [electronic resource] by
- Ferry, R J
- Kelly, A
- Grimberg, A
- Koo-McCoy, S
- Shapiro, M J
- Fellows, K E
- Glaser, B
- Aguilar-Bryan, L
- Stafford, D E
- Stanley, C A
Producer: 20000919
In:
The Journal of pediatrics vol. 137
Availability: No items available.
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103.
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Familial hyperinsulinism caused by an activating glucokinase mutation. [electronic resource] by
- Glaser, B
- Kesavan, P
- Heyman, M
- Davis, E
- Cuesta, A
- Buchs, A
- Stanley, C A
- Thornton, P S
- Permutt, M A
- Matschinsky, F M
- Herold, K C
Producer: 19980122
In:
The New England journal of medicine vol. 338
Availability: No items available.
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104.
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Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. [electronic resource] by
- Stanley, C A
- DeLeeuw, S
- Coates, P M
- Vianey-Liaud, C
- Divry, P
- Bonnefont, J P
- Saudubray, J M
- Haymond, M
- Trefz, F K
- Breningstall, G N
Producer: 19920212
In:
Annals of neurology vol. 30
Availability: No items available.
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105.
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Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. [electronic resource] by
- Stanley, C A
- Lieu, Y K
- Hsu, B Y
- Burlina, A B
- Greenberg, C R
- Hopwood, N J
- Perlman, K
- Rich, B H
- Zammarchi, E
- Poncz, M
Producer: 19980507
In:
The New England journal of medicine vol. 338
Availability: No items available.
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106.
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Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels. [electronic resource] by
- Stanley, C A
- Hale, D E
- Coates, P M
- Hall, C L
- Corkey, B E
- Yang, W
- Kelley, R I
- Gonzales, E L
- Williamson, J R
- Baker, L
Producer: 19840107
In:
Pediatric research vol. 17
Availability: No items available.
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107.
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Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations. [electronic resource] by
- Grimberg, A
- Ferry, R J
- Kelly, A
- Koo-McCoy, S
- Polonsky, K
- Glaser, B
- Permutt, M A
- Aguilar-Bryan, L
- Stafford, D
- Thornton, P S
- Baker, L
- Stanley, C A
Producer: 20010329
In:
Diabetes vol. 50
Availability: No items available.
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108.
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Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. [electronic resource] by
- Nestorowicz, A
- Wilson, B A
- Schoor, K P
- Inoue, H
- Glaser, B
- Landau, H
- Stanley, C A
- Thornton, P S
- Clement, J P
- Bryan, J
- Aguilar-Bryan, L
- Permutt, M A
Producer: 19970311
In:
Human molecular genetics vol. 5
Availability: No items available.
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109.
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Linkage-disequilibrium mapping without genotyping. [electronic resource] by
- Cheung, V G
- Gregg, J P
- Gogolin-Ewens, K J
- Bandong, J
- Stanley, C A
- Baker, L
- Higgins, M J
- Nowak, N J
- Shows, T B
- Ewens, W J
- Nelson, S F
- Spielman, R S
Producer: 19980330
In:
Nature genetics vol. 18
Availability: No items available.
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110.
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Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients. [electronic resource] by
- Bouchard, L
- Robert, M F
- Vinarov, D
- Stanley, C A
- Thompson, G N
- Morris, A
- Leonard, J V
- Quant, P
- Hsu, B Y
- Boneh, A
- Boukaftane, Y
- Ashmarina, L
- Wang, S
- Miziorko, H
- Mitchell, G A
Producer: 20010712
In:
Pediatric research vol. 49
Availability: No items available.
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