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Refinado por: Nome da Publicação: Journal Of Clinical Endocrinology And Metabolism remover Nome da Publicação: The Journal Of Clinical Endocrinology And Metabolism remover
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1
A 3-basepair in-frame deletion (ΔLeu999) in exon 17 of the insulin receptor gene in a family with insulin resistance
A 3-basepair in-frame deletion (ΔLeu999) in exon 17 of the insulin receptor gene in a family with insulin resistance
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A 3-basepair in-frame deletion (ΔLeu999) in exon 17 of the insulin receptor gene in a family with insulin resistance

AWATA, T ; MATSUMOTO, C ; MOMOMURA, K ; TAKAHASHI, Y ; ODAWARA, M ; KASUGA, M ; KADOWAKI, T ; IWAMOTO, Y

Journal of Clinical Endocrinology and Metabolism, 1994-12, Vol.79 (6), p.1840-1844 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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2
A de Novo mutation in the coding sequence for neurophysin-II (Pro24→Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus
A de Novo mutation in the coding sequence for neurophysin-II (Pro24→Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus
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A de Novo mutation in the coding sequence for neurophysin-II (Pro24→Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus

REPASKE, D. R ; BROWNING, J. E

Journal of Clinical Endocrinology and Metabolism, 1994-08, Vol.79 (2), p.421-427 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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3
A genomic point mutation in the extracellular domain of the thyrotropin receptor in patients with Graves' ophthalmopathy
A genomic point mutation in the extracellular domain of the thyrotropin receptor in patients with Graves' ophthalmopathy
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A genomic point mutation in the extracellular domain of the thyrotropin receptor in patients with Graves' ophthalmopathy

BAHN, R. S ; DUTTON, C. M ; HEUFELDER, A. E ; GOBINDA SARKAR

Journal of Clinical Endocrinology and Metabolism, 1994-02, Vol.78 (2), p.256-260 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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4
Age and family relationship accentuate the risk of insulin-dependent diabetes mellitus (IDDM) in relatives of patients with IDDM
Age and family relationship accentuate the risk of insulin-dependent diabetes mellitus (IDDM) in relatives of patients with IDDM
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Age and family relationship accentuate the risk of insulin-dependent diabetes mellitus (IDDM) in relatives of patients with IDDM

CANTOR, A. B ; KRISCHER, J. P ; CUTHBERTSON, D. D ; SCHATZ, D. A ; RILEY, W. J ; MALONE, J ; SCHWARTZ, S ; QUATTRIN, T ; MACLAREN, N. K

Journal of Clinical Endocrinology and Metabolism, 1995-12, Vol.80 (12), p.3739-3743 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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5
Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens
Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens
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Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens

MORISHIMA, A ; GRUMBACH, M. M ; SIMPSON, E. R ; FISHER, C ; KENAN QIN

Journal of Clinical Endocrinology and Metabolism, 1995-12, Vol.80 (12), p.3689-3698 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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6
Calcium absorption on high and low calcium intakes in relation to vitamin D receptor genotype
Calcium absorption on high and low calcium intakes in relation to vitamin D receptor genotype
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Calcium absorption on high and low calcium intakes in relation to vitamin D receptor genotype

DAWSON-HUGHES, B ; HARRIS, S. S ; FINNERAN, S

Journal of Clinical Endocrinology and Metabolism, 1995-12, Vol.80 (12), p.3657-3661 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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7
Cholesteryl ester transfer protein gene : two common mutations and their effect on plasma high-density lipoprotein cholesterol content
Cholesteryl ester transfer protein gene : two common mutations and their effect on plasma high-density lipoprotein cholesterol content
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Cholesteryl ester transfer protein gene : two common mutations and their effect on plasma high-density lipoprotein cholesterol content

AKITA, H ; CHIBA, H ; TSUCHIHASHI, K ; TSUJI, M ; KUMAGAI, M ; MATSUNO, K ; KOBAYASHI, K

Journal of Clinical Endocrinology and Metabolism, 1994-12, Vol.79 (6), p.1615-1618 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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8
Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains
Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains
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Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains

HEATH, H. III ; ODELBERG, S ; GARRETT, J. E ; LEPPERT, M. F ; JACKSON, C. E ; BIN TEAN TEH ; HAYWARD, N ; LARSSON, C ; BUIST, N. R. M ; KRAPCHO, K. J ; HUNG, B. C ; CAPUANO, I. V

Journal of Clinical Endocrinology and Metabolism, 1996-04, Vol.81 (4), p.1312-1317 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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9
Codon 972 polymorphism in the insulin receptor substrate-1 gene, obesity, and risk of noninsulin-dependent diabetes mellitus
Codon 972 polymorphism in the insulin receptor substrate-1 gene, obesity, and risk of noninsulin-dependent diabetes mellitus
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Codon 972 polymorphism in the insulin receptor substrate-1 gene, obesity, and risk of noninsulin-dependent diabetes mellitus

Sigal, R J ; Doria, A ; Warram, J H ; Krolewski, A S

Journal of Clinical Endocrinology and Metabolism, 1996-04, Vol.81 (4), p.1657-1659 [Periódico revisado por pares]

United States

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10
Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency
Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency
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Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency

NAVILLE, D ; BARJHOUX, L ; JAILLARD, C ; FAURY, D ; DESPERT, F ; ESTEVA, B ; DURAND, P ; SAEZ, J. M ; BEGEOT, M

Journal of Clinical Endocrinology and Metabolism, 1996-04, Vol.81 (4), p.1442-1448 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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