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Mutations of the thyroglobulin gene and its relevance to thyroid disorders
(LIPPINCOTT WILLIAMS & WILKINS, 2009)
Purpose of review To perform an update review on thyroglobulin gene mutations associated with congenital hypothyroidism, thyroid cancer, and autoimmunity. Recent findings Forty-two thyroglobulin mutations have been identified ...
Anoftalmia clínica bilateral associada à hidrocefalia congênita em cão
(Universidade Federal de Santa Maria (UFSM), 2013)
Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies
(Sociedad Brasileira de Pediatria with Elsevier, 2015)
Objectives
Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first-tier test. This ...
Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies
(Sociedad Brasileira de Pediatria with Elsevier, 2015)
Objectives
Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first-tier test. This ...