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Общее количество найденных документов : 15
Показаны документы с 1 по 15
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1.
| Roth V.L. Coat color genetics of Peromyscus 24 V: Coat color genetics of Peromyscus 24 V. California blonde,a new recessive mutation in the deer mouse // J. Hered., 1996. Vol. 87, N 5.-С.403-406
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2.
| Molecular genetic study of Finns with hypoalphalipoproteinemia and hyperalphalipoproteinemia: A novel Gly{230} Arg mutation (LCAT[Fin]) of lecithin: cholesterol acyltransferase (LCAT) accounts for 5% of cases with very low serum HDL cholesterol levels // Arteriosclerosis, Thrombosis and Vasc. Biol., 1998. Vol. 18, N 4.-С.591-598
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3.
| Novel 'БЕТА'-thalassemia mutation in patients of Jewish descent: ['БЕТА'30(B12)ARG'->'CLY or IVS-I (-2) (A'->'G)] // Hemoglobin, 1998. Vol. 22, N 1.-С.83-85
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4.
| Molecular genetic study of Finns with hypoalphalipoproteinemia and hyperalphalipoproteinemia: A novel Gly{230} Arg mutation (LCAT[Fin]) of lecithin: cholesterol acyltransferase (LCAT) accounts for 5% of cases with very low serum HDL cholesterol levels // Arteriosclerosis, Thrombosis and Vasc. Biol., 1998. Vol. 18, N 4.-С.591-598
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5.
| A novel mutation in the pendrin gene associated with Pendred's syndrome // Clin. Endocrinol., 2000. Vol. 52, N 3.-С.279-285
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6.
| K40E: A novel succinate dehydrogenase (SDH)B mutation causing familial phaeochromocytoma and paraganglioma // Clin. Endocrinol., 2004. Vol. 61, N 4.-С.510-514
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7.
| K40E: A novel succinate dehydrogenase (SDH)B mutation causing familial phaeochromocytoma and paraganglioma // Clin. Endocrinol., 2004. Vol. 61, N 4.-С.510-514
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8.
| Autosomal dominant hypocalcemia: A novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor // J. Clin. Endocrinol. and Metab., 2003. Vol. 88, N 2.-С.605-610
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9.
| A novel mutation in IFN-'гамма' receptor 2 with dominant negative activity: Biological consequences of heomozygous and heterozygous states // J. Immunol., 2004. Vol. 173, N 6.-С.4000-4008
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10.
| A novel mutation in the preprovasopressin gene identified in a kindred with autosomal dominant neurohypophyseal diabetes insipidus // J. Clin. Endocrinol. and Metab., 2004. Vol. 89, N 4.-С.1963-1968
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11.
| A novel C3 mutation causing increased formation of the C3 convertase in familial atypical hemolytic uremic syndrome // J. Immunol., 2012. Vol. 188, N 4.-С.2030-2037
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12.
| New C1q mutation in a Tunisian family // Immunobiology, 2014. Vol. 219, N 3.-С.241-246
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13.
| New C1q mutation in a Tunisian family // Immunobiology, 2014. Vol. 219, N 3.-С.241-246
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14.
| Novel mutation in insulin receptor gene identified after muscle biopsy in a Niuean woman with severe insulin resistance // Diabet. Med., 2015. Vol. 32, N 10.-С.e24-e28
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15.
| Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3 // Clin. Endocrinol., 2016. Vol. 84, N 1.-С.141-148
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