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HARVENGT, Julie
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1

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/..
 
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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/..
 
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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/..
 
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4

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/..
 
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5

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/..
 
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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/..
 
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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/..
 
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