Detalhe da pesquisa
1.
Role of CAMK2D in neurodevelopment and associated conditions.
Am J Hum Genet
; 111(2): 364-382, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272033
2.
5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression.
Am J Med Genet A
; 191(3): 835-841, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36458506
3.
Incomplete spinal cord injury following minor trauma in two siblings with spondylocostal dysostis type 6.
Spine Deform
; 12(2): 507-511, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38097876
4.
Case Report: Developmental Delay and Acute Neuropsychiatric Episodes Associated With a de novo Mutation in the CAMK2B Gene (c.328G>A p.Glu110Lys).
Front Pharmacol
; 13: 794008, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35620293
5.
Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge.
Front Pediatr
; 9: 800915, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35186825
6.
Genetic screening of a Dutch population with isolated GH deficiency (IGHD).
Clin Endocrinol (Oxf)
; 70(5): 742-50, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18785993
7.
PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency.
Horm Res Paediatr
; 73(5): 363-71, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20389107
8.
Retinol status of newborn infants is associated with congenital diaphragmatic hernia.
Pediatrics
; 126(4): 712-20, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20837596