Detalhe da pesquisa
1.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32668217
2.
Parental Burden and its Correlates in Families of Children with Autism Spectrum Disorder: A Multicentre Study with Two Comparison Groups.
Clin Pract Epidemiol Ment Health
; 14: 143-176, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30158998
3.
Acute psychosis in an adolescent with undiagnosed homocystinuria.
Eur J Pediatr
; 174(9): 1263-6, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25939413
4.
Geographical epidemiology of neonatal transitory hypothyroidism. Trend evidence in central Italian region.
J Pediatr Endocrinol Metab
; 21(4): 377-80, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18556969
5.
Living with phenylketonuria in adulthood: The PKU ATTITUDE study.
Mol Genet Metab Rep
; 16: 39-45, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30069431
6.
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.
J Clin Endocrinol Metab
; 91(4): 1428-33, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16418214
7.
Risk factors for congenital hypothyroidism: results of a population case-control study (1997-2003).
Eur J Endocrinol
; 153(6): 765-73, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16322381
8.
In congenital hypothyroidism bone maturation at birth may be a predictive factor of psychomotor development during the first Year of life irrespective of other variables related to treatment.
Eur J Endocrinol
; 149(1): 1-6, 2003 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12824859