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  • Book
    edited by Roy E. Weiss, Samuel Refetoff.
    Contents:
    Mechanisms of mutation
    A clinical guide to monogenic diabetes
    Hypoglycemia
    Functioning pituitary adenomas
    Diabetes insipidus
    States of pituitary hypofunction
    Congenital defects of thyroid hormone synthesis
    Developmental abnormalities of the thyroid
    Syndromes of impaired sensitivity to thyroid hormone
    Molecular diagnosis of thyroid cancer
    Genetics of hyperparathyroidism including parathyroid cancer
    Genetic diagnosis of skeletal dysplasias
    Vitamin d disorders
    Congenital adrenal hyperplasia
    Genetics of adrenocortical tumors (ACT) and hypersecretory syndromes
    Hereditary syndromes involving pheochromocytoma and paraganglioma
    Genetic conditions associated with congenital adrenocortical insufficiency or glucocorticoid and/or mineralocorticoid resistance
    Genetic considerations in the evaluation of menstrual cycle irregularities
    Disorders of sex development
    Androgen insensitivity due to mutations of the androgen receptor
    Obesity
    Syndromes of severe insulin resistance and/or lipodystrophy
    Lipodystrophies
    Multiple endocrine neoplasia type 1 (MEN1)
    Genetics of polyglandular failure
    Genetic diagnosis of growth failure
    Cost-effectiveness of genetic testing for monogenic diabetes
    Genetic counseling: the role of genetic counselors on healthcare provider and endocrinology teams
    Setting up a laboratory
    Introduction to applications of genomic sequencing.
    Digital Access ClinicalKey 2016