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A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome
(Lippincott Williams & WilkinsPhiladelphiaEUA, 2000)
Communicative and psycholinguistic abilities in children with phenylketonuria and congenital hypothyroidism
(Faculdade De Odontologia De Bauru - USP, 2009)
The Neonatal Screening for Inborn Errors of Metabolism of the Association of Parents and Friends of Special Needs Individuals (APAE) - Bauru, Brazil, was implanted and accredited by the Brazilian Ministry of Health in 1998. ...
A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: Evidence for phenotypic variability in mother and child
(Endocrine Soc, 2001-08-01)
Congenital hypothyroidism associated with thyroid hypoplasia can be caused by several genetic defects, including mutations in the TSH beta -subunit, the TSH receptor, the G(A)alpha -subunit, and the transcription factor ...
A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: Evidence for phenotypic variability in mother and child
(2001-01-01)
Congenital hypothyroidism associated with thyroid hypoplasia can be caused by several genetic defects, including mutations in the TSHβ-subunit, the TSH receptor, the Gsα-subunit, and the transcription factor PAX8. Four ...
Detección precoz de hipotiroidismo congénito en Chile: Resultados en 24 meses
(Sociedad Chilena de Pediatría, 1995)
A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect
(Blackwell Science LtdOxfordInglaterra, 1999)