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HARVENGT, Julie
50
results:
Search for persons
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Format
Online (50)
Mediatypes
Articles (Online) (7)
OpenAccess-fulltext (43)
Languages
english (41)
french (6)
Sorted by: Relevance
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?
1
Genetic association analysis of 77,539 genomes reveals rare..:
Greene, Daniel
;
Pirri, Daniela
;
Frudd, Karen
...
Nature Medicine. 29 (2023) 3 - p. 679-688 , 2023
Link:
https://doi.org/10.1038/..
?
2
Rapid Whole Genome Sequencing Diagnoses and Guides Treatmen..:
Lumaka, Aimé
;
Fasquelle, Corinne
;
Debray, Francois-Guillaume
...
International Journal of Molecular Sciences. 24 (2023) 4 - p. 4003 , 2023
Link:
https://doi.org/10.3390/..
?
3
Novel Loss of Function Variant in BCKDK Causes a Treatable ..:
Boemer, François
;
Josse, Claire
;
Luis, Géraldine
...
International Journal of Molecular Sciences. 23 (2022) 4 - p. 2253 , 2022
Link:
https://doi.org/10.3390/..
?
4
ROHHAD syndrome without rapid-onset obesity: A diagnosis ch..:
Desse, Blandine
;
Tran, Antoine
;
Butori, Mathilde
...
Frontiers in Pediatrics. 10 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
5
Clinical overview and outcome of the Stuve-Wiedemann syndro..:
Warnier, Hélène
;
Barrea, Christophe
;
Bethlen, Sarah
..
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
?
6
ROHHAD(NET) Syndrome: Systematic Review of the Clinical Tim..:
Harvengt, Julie
;
Gernay, Caroline
;
Mastouri, Meriem
...
The Journal of Clinical Endocrinology & Metabolism. 105 (2020) 7 - p. 2119-2131 , 2020
Link:
https://doi.org/10.1210/..
?
7
Clinical variability in neurohepatic syndrome due to combin..:
Harvengt, Julie
;
Wanty, Catherine
;
De Paepe, Boel
...
Molecular Genetics and Metabolism Reports. 1 (2014) - p. 223-231 , 2014
Link:
https://doi.org/10.1016/..
?
8
Rapid Whole Genome Sequencing Diagnoses and Guides Treatmen..:
Lumaka, Aimé
;
Fasquelle, Corinne
;
Debray, Francois-Guillaume
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9967120/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
9
Genetic association analysis of 77,539 genomes reveals rare..:
Greene, Daniel
;
Pirri, Daniela
;
Frudd, Karen
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10033407/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
10
Genetic association analysis of 77,539 genomes reveals rare..:
Greene, Daniel
;
Pirri, Daniela
;
Frudd, Karen
...
doi:10.17863/CAM.96298. , 2023
Link:
https://doi.org/10.17863..
?
11
Clinical overview and outcome of the Stuve-Wiedemann syndro..:
Warnier, Hélène
;
Barrea, Christophe
;
Bethlen, Sarah
..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034487/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
12
Clinical overview and outcome of the Stuve-Wiedemann syndro..:
WARNIER, Hélène
;
BARREA, Christophe
;
BETHLEN, Sarah
..
https://link.springer.com/content/pdf/10.1186/s13023-022-02323-8.pdf. , 2022
Link:
https://orbi.uliege.be/h..
?
13
ROHHAD syndrome without rapid-onset obesity: A diagnosis ch..:
Desse, Blandine
;
Tran, Antoine
;
Butori, Mathilde
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9471950/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
14
Novel Loss of Function Variant in BCKDK Causes a Treatable ..:
BOEMER, François
;
JOSSE, Claire
;
LUIS, Géraldine
...
https://www.mdpi.com/1422-0067/23/4/2253/pdf. , 2022
Link:
https://orbi.uliege.be/h..
?
15
ROHHAD syndrome without rapid-onset obesity: A diagnosis ch..:
Desse, Blandine
;
Tran, Antoine
;
Butori, Mathilde
...
https://www.frontiersin.org/articles/10.3389/fped.2022.910099/full. , 2022
Link:
https://orbi.uliege.be/h..
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