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1.
Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.
Am J Med Genet A
; 191(9): 2440-2445, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37294112
2.
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
PLoS Genet
; 15(4): e1008088, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31034465
3.
Primrose syndrome: Characterization of the phenotype in 42 patients.
Clin Genet
; 97(6): 890-901, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32266967
4.
Motor development in 3-month-old healthy term-born infants is associated with cognitive and behavioural outcomes at early school age.
Dev Med Child Neurol
; 56(9): 869-76, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24766572
5.
Development of fine motor skills in preterm infants.
Dev Med Child Neurol
; 55 Suppl 4: 1-4, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-24237270
6.
Hydrocortisone vs. dexamethasone treatment for bronchopulmonary dysplasia and their effects on general movements in preterm infants.
Pediatr Res
; 71(1): 100-6, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-22289857
7.
A comparison of the early motor repertoire of very preterm infants and term infants.
Eur J Paediatr Neurol
; 32: 73-79, 2021 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-33848955
8.
The role of TBX18 in congenital heart defects in humans not confirmed.
Eur J Hum Genet
; 31(2): 138-141, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36418409
9.
Associations between developmental trajectories of movement variety and visual attention in fullterm and preterm infants during the first six months postterm.
Early Hum Dev
; 91(1): 89-96, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25556578
10.
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?
JIMD Rep
; 18: 117-24, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25256450
11.
The quality of general movements after treatment with low-dose dexamethasone in preterm infants at risk of bronchopulmonary dysplasia.
Neonatology
; 106(3): 222-8, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25012880
12.
Early visual attention in preterm and fullterm infants in relation to cognitive and motor outcomes at school age: an exploratory study.
Front Pediatr
; 2: 106, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25340045
13.
Functional outcome at school age of preterm-born children treated with high-dose dexamethasone.
Early Hum Dev
; 90(5): 253-8, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24602475
14.
Prenatal exposure to polychlorinated biphenyls and their hydroxylated metabolites is associated with motor development of three-month-old infants.
Neurotoxicology
; 38: 124-30, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23895877
15.
Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP.
Pediatrics
; 130(4): e1005-10, 2012 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-22987873
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