Detalhe da pesquisa
1.
Clinical practice - latest insights in optimizing the care of children with Down syndrome.
Eur J Pediatr
; 182(5): 2027-2039, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36897403
2.
Neonatal mortality and morbidity in Down syndrome in the time of prenatal aneuploidy testing: a retrospective cohort study.
Eur J Pediatr
; 182(1): 319-328, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36350406
3.
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
Hum Mutat
; 43(10): 1377-1395, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35730652
4.
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
Nephron Physiol
; 123(3-4): 7-14, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24193250
5.
Beneficial effects of growth hormone treatment on cognition in children with Prader-Willi syndrome: a randomized controlled trial and longitudinal study.
J Clin Endocrinol Metab
; 97(7): 2307-14, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22508707
6.
[Diagnosis of fetal alcohol spectrum disorders]. / Diagnostiek van foetale alcoholspectrumstoornissen.
Ned Tijdschr Geneeskd
; 154: A331, 2010.
Artigo
em Holandês
| MEDLINE | ID: mdl-20858301