Publications by Jostein Westvik
20 publications found
Original articles
The role of delayed bone age in the evaluation of stature and bone health in glucocorticoid treated patients with Duchenne muscular dystrophy
Int J Pediatr Endocrinol, 2019, 4
DOI 10.1186/s13633-019-0070-0, PubMed 31889957
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
PLoS One, 11 (3), e0150555
DOI 10.1371/journal.pone.0150555, PubMed 26974433
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
Hum Mol Genet, 24 (20), 5845-54
DOI 10.1093/hmg/ddv305, PubMed 26220973
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
Am J Hum Genet, 95 (1), 96-107
DOI 10.1016/j.ajhg.2014.05.007, PubMed 24931394
Feasibility of long-term continuous EEG monitoring during the first days of life in preterm infants: an automated quantification of the EEG activity
Pediatr Res, 69 (5 Pt 1), 413-7
DOI 10.1203/PDR.0b013e31821267d2, PubMed 21283050
Correction of postpneumonectomy syndrome in infants with saline-filled expandable prosthesis
Interact Cardiovasc Thorac Surg, 13 (1), 89-90
DOI 10.1510/icvts.2010.261164, PubMed 21422160
Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear
Am J Med Genet, 108 (2), 120-7
DOI 10.1002/ajmg.10245, PubMed 11857561
[Catheter closure of open ductus arteriosus--the first 100 patients]
Tidsskr Nor Laegeforen, 120 (9), 1011-4
PubMed 10833957
Coronal and sagittal clefts in skeletal dysplasias
Pediatr Radiol, 28 (10), 764-70
DOI 10.1007/s002470050462, PubMed 9799298
Radiological features in generalized lipodystrophy
Acta Paediatr Suppl, 413, 44-51
DOI 10.1111/j.1651-2227.1996.tb14265.x, PubMed 8783772
[Fibrodysplasia (myositis) ossificans progressiva]
Tidsskr Nor Laegeforen, 115 (28), 3496-8
PubMed 7491602
Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome?
Am J Med Genet, 59 (1), 92-5
DOI 10.1002/ajmg.1320590118, PubMed 8849019
Renal cysts in the carbohydrate-deficient glycoprotein syndrome
Pediatr Nephrol, 7 (3), 253-5
DOI 10.1007/BF00853211, PubMed 8518092
Cleft lip and palate, scoliosis, skeletal and cardiac malformations and other dysmorphic features in a child. Case report
Scand J Plast Reconstr Surg Hand Surg, 27 (1), 71-4
DOI 10.3109/02844319309080295, PubMed 8493488
Iohexol for contrast enhancement of bowel in pediatric abdominal CT
Acta Radiol, 31 (6), 601-4
PubMed 2278786
Radiological findings in children with respiratory syncytial virus infection: relationship to clinical and bacteriological findings
Pediatr Radiol, 16 (2), 120-2
DOI 10.1007/BF02386634, PubMed 3951895
[Circulatory disturbances in a wandering spleen]
Tidsskr Nor Laegeforen, 98 (15), 773-4
PubMed 675612
Other articles
[Re: Special outpatient clinic for skeletal dysplasias]
Tidsskr Nor Laegeforen, 135 (8), 736
DOI 10.4045/tidsskr.15.0440, PubMed 25947586
Untitled
Cardiol. Young, 10 (5), 544-545
Carrying out inteventional procedures, and when the arterial duct is patent
Cardiol Young, 10 (5), 544-5
PubMed 11049133