Works matching AU De Paepe
Results: 753
Pain relief in labour by transcutaneous electrical nerve stimulation (TENS).
- Published in:
- 2000
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- Publication type:
- journal article
Chile's neoliberal health reform: an assessment and a critique.
- Published in:
- 2008
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- Publication type:
- journal article
Respiratory complex I deficiency induces drought tolerance by impacting leaf stomatal and hydraulic conductances.
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- Planta: An International Journal of Plant Biology, 2012, v. 235, n. 3, p. 603, doi. 10.1007/s00425-011-1524-7
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- Publication type:
- Article
Understanding the factors influencing the implementation of participatory interventions to improve care coordination. An analytical framework based on an evaluation in Latin America.
- Published in:
- 2020
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- Publication type:
- journal article
Urethral involvement in female patients with bladder cancer. A study of 22 cystectomy specimens.
- Published in:
- 1990
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- Publication type:
- journal article
Endoglin (CD105) up-regulation in pulmonary microvasculature of ventilated preterm infants.
- Published in:
- 2008
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- Publication type:
- journal article
Phase 1 Safety and Immunogenicity Study of a Respiratory Syncytial Virus Vaccine With an Adenovirus 26 Vector Encoding Prefusion F (Ad26.RSV.preF) in Adults Aged ≥60 Years.
- Published in:
- 2020
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- Publication type:
- journal article
Prevention of Respiratory Syncytial Virus Infection in Healthy Adults by a Single Immunization of Ad26.RSV.preF in a Human Challenge Study.
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- 2022
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- Publication type:
- journal article
Safety and Immunogenicity of the Ad26.RSV.preF Investigational Vaccine Coadministered With an Influenza Vaccine in Older Adults.
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- 2021
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- Publication type:
- journal article
Pharmacokinetic and pharmacodynamic considerations when treating patients with sepsis and septic shock.
- Published in:
- 2002
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- Publication type:
- journal article
Effectiveness of a Web-Based Screening and Fully Automated Brief Motivational Intervention for Adolescent Substance Use: A Randomized Controlled Trial.
- Published in:
- 2016
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- Publication type:
- journal article
Prevention of adoptive transfer in BB rats by prophylactic insulin treatment.
- Published in:
- 1992
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- Publication type:
- journal article
PAX5/IGH rearrangement is a recurrent finding in a subset of aggressive B‐NHL with complex chromosomal rearrangementsThis text presents research results of the Belgian program of Interuniversity Poles of Attraction initiated by the Belgian State, Prime Minister's Office, Science Policy Programming. The scientific responsibility is assumed by the authors.
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- Genes, Chromosomes & Cancer, 2005, v. 44, n. 2, p. 218, doi. 10.1002/gcc.20214
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- Publication type:
- Article
Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failure.
- Published in:
- 1996
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- Publication type:
- journal article
Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing.
- Published in:
- 1999
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- Publication type:
- journal article
Growth of pulmonary microvasculature in ventilated preterm infants.
- Published in:
- 2006
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- Publication type:
- journal article
CADM1 is a strong neuroblastoma candidate gene that maps within a 3.72 Mb critical region of loss on 11q23.
- Published in:
- 2008
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- Publication type:
- journal article
Orofacial manifestations of congenital fibrillin deficiency: pathogenesis and clinical diagnostics.
- Published in:
- 2004
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- Publication type:
- journal article
Letters to the Editor.
- Published in:
- 2004
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- Publication type:
- Letter
Transverse Dephasing Optimised NMR Spectroscopy in Solids: Natural-Abundance 13C Correlation Spectra.
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- ChemPhysChem, 2004, v. 5, n. 6, p. 869
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- Publication type:
- Article
ZnO Nanoplatelets with Controlled Thickness: Atomic Insight into Facet‐Specific Bimodal Ligand Binding Using DNP NMR (Adv. Funct. Mater. 49/2021).
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- Advanced Functional Materials, 2021, v. 31, n. 49, p. 1, doi. 10.1002/adfm.202170364
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- Publication type:
- Article
ZnO Nanoplatelets with Controlled Thickness: Atomic Insight into Facet‐Specific Bimodal Ligand Binding Using DNP NMR.
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- Advanced Functional Materials, 2021, v. 31, n. 49, p. 1, doi. 10.1002/adfm.202105318
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- Publication type:
- Article
BMP4 plays a role in apoptosis during human preimplantation development.
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- Molecular Reproduction & Development, 2019, v. 86, n. 1, p. 53, doi. 10.1002/mrd.23081
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- Publication type:
- Article
Arrested pulmonary alveolar cytodifferentiation and defective surfactant synthesis in mice missing the gene for parathyroid hormone-related protein.
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- Developmental Dynamics, 2004, v. 230, n. 2, p. 278
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- Publication type:
- Article
Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-t RNA Synthetase ( NARS2).
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- Human Mutation, 2015, v. 36, n. 2, p. 222, doi. 10.1002/humu.22728
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- Publication type:
- Article
Type I Procollagen C-Propeptide Defects: Study of Genotype-Phenotype Correlation and Predictive Role of Crystal Structure.
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- Human Mutation, 2014, v. 35, n. 11, p. 1330, doi. 10.1002/humu.22677
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- Publication type:
- Article
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.
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- Human Mutation, 2012, v. 33, n. 10, p. 1485, doi. 10.1002/humu.22137
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- Publication type:
- Article
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
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- Human Mutation, 2011, v. 32, n. 9, p. 1053, doi. 10.1002/humu.21525
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- Publication type:
- Article
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.
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- Human Mutation, 2011, v. 32, n. 4, p. 445, doi. 10.1002/humu.21462
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- Article
Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations.
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- Human Mutation, 2011, v. 32, n. 3, p. 335, doi. 10.1002/humu.21428
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- Article
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.
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- Human Mutation, 2010, v. 31, n. 11, p. 1233, doi. 10.1002/humu.21355
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- Article
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions.
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- Human Mutation, 2010, v. 31, n. 5, p. E1332, doi. 10.1002/humu.21233
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- Article
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature.
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- Human Mutation, 2009, v. 30, n. 3, p. 334, doi. 10.1002/humu.20854
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- Article
FOXL2 mutations and genomic rearrangements in BPES.
- Published in:
- 2009
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- Publication type:
- Other
COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.
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- Human Mutation, 2009, v. 30, n. 2, p. E395, doi. 10.1002/humu.20887
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- Publication type:
- Article
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.
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- Human Mutation, 2008, v. 29, n. 1, p. 205, doi. 10.1002/humu.9514
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- Publication type:
- Article
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.
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- Human Mutation, 2007, v. 28, n. 4, p. 387, doi. 10.1002/humu.20455
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- Publication type:
- Article
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
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- Human Mutation, 2007, v. 28, n. 3, p. 209, doi. 10.1002/humu.20429
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- Article
Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.
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- Human Mutation, 2006, v. 27, n. 10, p. 1030, doi. 10.1002/humu.20389
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- Publication type:
- Article
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.
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- Human Mutation, 2006, v. 27, n. 3, p. 290, doi. 10.1002/humu.9403
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- Article
The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients.
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- Human Mutation, 2005, v. 25, n. 1, p. 28, doi. 10.1002/humu.20107
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- Article
The human FOXL2 mutation database.
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- Human Mutation, 2004, v. 24, n. 3, p. 189, doi. 10.1002/humu.20079
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- Article
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
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- Human Mutation, 2004, v. 24, n. 2, p. 140, doi. 10.1002/humu.20070
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- Article
Update of the UMD?FBN1 mutation database and creation of an FBN1 polymorphism databaseCommunicated by Mark H. PaalmanThe Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/v22.html
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- Human Mutation, 2003, v. 22, n. 3, p. 199
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- Article
Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.
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- Human Mutation, 2002, v. 19, n. 4, p. 443, doi. 10.1002/humu.10054
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- Publication type:
- Article
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
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- Human Mutation, 2000, v. 15, n. 6, p. 541, doi. 10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N
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- Publication type:
- Article
Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 Flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease.
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- Human Mutation, 1999, v. 13, n. 3, p. 256, doi. 10.1002/(SICI)1098-1004(1999)13:3<256::AID-HUMU12>3.0.CO;2-M
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- Publication type:
- Article
Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT.
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- Human Mutation, 1997, v. 10, n. 3, p. 236, doi. 10.1002/(SICI)1098-1004(1997)10:3<236::AID-HUMU10>3.0.CO;2-0
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- Publication type:
- Article
Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.
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- Human Mutation, 1995, v. 5, n. 2, p. 179, doi. 10.1002/humu.1380050213
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- Publication type:
- Article
Substitution of glycine-172 by arginine in the α1 chain of type I collagen in a patient with osteogenesis imperfecta, type III.
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- Human Mutation, 1994, v. 3, n. 3, p. 324, doi. 10.1002/humu.1380030327
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- Publication type:
- Article