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020 a| 9780123744302 (hbk.);

020 a| 012374430X (hbk.);

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245 00 a| Genetic diagnosis of endocrine disordersh| [electronic resource] /c| edited by Roy E. Weiss, Samuel Refetoff.;

250 a| 1st ed.;

260 a| Amsterdam ;a| Boston :b| Elsevier/Academic Press,;

300 a| x, 323 p., [8] p. of plates :b| ill. (some col.) ;c| 29 cm.;

504 a| Includes bibliographical references and index.;

505 0 a| Mechanisms of mutation -- Pancreas - Genetic testing in diabetes mellitus: a clinical guide to monogenic diabetes -- Obesity -- Syndromes of severe insulin resistance and/or lipodystrophy -- Pituitary -- Functioning pituitary adenomas -- Diabetes insipidus -- States of pituitary hypofunction -- Thyroid -- Congenital defects of thyroid hormone synthesis -- Developmental abnormalities of the thyroid -- Syndromes of reduced sensitivity to thyroid hormone -- Molecular genetics of thyroid cancer: pathogenetic significance and clinical applications -- Parathyroid and bone -- Genetics of hyperparathyroidism including parathyroid cancer -- Genetic diagnosis of skeletal dysplasias -- Vitamin D disorders -- Adrenal -- Congenital adrenal hyperplasia -- Genetics of adrenocortical tumors (ACT) and hypersecretory syndromes -- Hereditary pheochromocytoma and multiple endocrine neoplasia type 2 (MEN2) -- Genetic conditions associated with congenital adrenocortical insufficiency or glucocorticoid and/or mineralocorticoid resistance -- Reproductive -- Genetic considerations in the evaluation of menstrual cycle irregularities -- Genetic diagnosis of hypogonadotropic hypogonadism and Kallmann syndrome -- Disorders of sex development -- Genetic defects of androgen resistance -- Multisystem disorders -- Multiple endocrine neoplasia type 1 (MEN1) -- Genetics of polyglandular failure -- Growth -- Genetic diagnosis of growth failure -- Counseling and laboratory -- Genetic counseling -- Setting up a laboratory.;

506 a| Available only to authorized users.;

538 a| Mode of access: World Wide Web;

650 12 a| Endocrine System Diseasesx| genetics=| ^A942036;

650 12 a| Endocrine System Diseasesx| diagnosis=| ^A942461;

650 22 a| Genetic Testing=| ^A920454;

655 0 a| Electronic books.=| ^A491897;

700 1 a| Weiss, Roy E.=| ^A1022028;

700 1 a| Refetoff, Samuel.=| ^A1022029;

856 40 z| Full text available from eBook - Medicine and Dentistry 2010 [EBCMD10]u| https://go.openathens.net/redirector/ecu.edu?url=https%3A%2F%2Fwww.sciencedirect.com%2Fscience%2Fbook%2F9780123744302;

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Genetic diagnosis of endocrine disorders / edited by Roy E. Weiss, Samuel Refetoff.

Other author	Weiss, Roy E.
Other author	Refetoff, Samuel.
Format	Electronic
Edition	1st ed.
Publication Info	Amsterdam ; Boston : Elsevier/Academic Press,
Description	x, 323 p., [8] p. of plates : ill. (some col.) ; 29 cm.
Supplemental Content	Full text available from eBook - Medicine and Dentistry 2010 [EBCMD10]
Subjects	Endocrine System Diseases--genetics. Endocrine System Diseases--diagnosis. Genetic Testing

Contents	Mechanisms of mutation -- Pancreas - Genetic testing in diabetes mellitus: a clinical guide to monogenic diabetes -- Obesity -- Syndromes of severe insulin resistance and/or lipodystrophy -- Pituitary -- Functioning pituitary adenomas -- Diabetes insipidus -- States of pituitary hypofunction -- Thyroid -- Congenital defects of thyroid hormone synthesis -- Developmental abnormalities of the thyroid -- Syndromes of reduced sensitivity to thyroid hormone -- Molecular genetics of thyroid cancer: pathogenetic significance and clinical applications -- Parathyroid and bone -- Genetics of hyperparathyroidism including parathyroid cancer -- Genetic diagnosis of skeletal dysplasias -- Vitamin D disorders -- Adrenal -- Congenital adrenal hyperplasia -- Genetics of adrenocortical tumors (ACT) and hypersecretory syndromes -- Hereditary pheochromocytoma and multiple endocrine neoplasia type 2 (MEN2) -- Genetic conditions associated with congenital adrenocortical insufficiency or glucocorticoid and/or mineralocorticoid resistance -- Reproductive -- Genetic considerations in the evaluation of menstrual cycle irregularities -- Genetic diagnosis of hypogonadotropic hypogonadism and Kallmann syndrome -- Disorders of sex development -- Genetic defects of androgen resistance -- Multisystem disorders -- Multiple endocrine neoplasia type 1 (MEN1) -- Genetics of polyglandular failure -- Growth -- Genetic diagnosis of growth failure -- Counseling and laboratory -- Genetic counseling -- Setting up a laboratory.
Bibliography note	Includes bibliographical references and index.
Access restriction	Available only to authorized users.
Technical details	Mode of access: World Wide Web
Genre/form	Electronic books.
ISBN	9780123744302 (hbk.)
ISBN	012374430X (hbk.)

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Genetic diagnosis of endocrine disorders / edited by Roy E. Weiss, Samuel Refetoff.

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