1. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral–facial–digital syndrome with short stature and brachymesophalangia. Issue 6 (29th April 2016) Authors: Thevenon, J.; Duplomb, L.; Phadke, S.; Eguether, T.; Saunier, A.; Avila, M.; Carmignac, V.; Bruel, A.‐L.; St‐Onge, J.; Duffourd, Y.; Pazour, G.J.; Franco, B.; Attie‐Bitach, T.; Masurel‐Paulet, A.; Rivière, J.‐B.; Cormier‐Daire, V.; Philippe, C.; Faivre, L.; Thauvin‐Robinet, C. Journal: Clinical genetics Issue: Volume 90:Issue 6(2016) Page Start: 509 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations. (22nd May 2021) Authors: Theiler, M.; Weibel, L.; Christen‐Zaech, S.; Carmignac, V.; Sorlin, A.; Neuhaus, K.; Chevarin, M.; Thauvin‐Robinet, C.; Philippe, C.; Faivre, L.; Vabres, P.; Kuentz, P. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 35:Number 10(2021) Page Start: 2085 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway. (10th March 2022) Authors: Bourgon, N.; Carmignac, V.; Sorlin, A.; Duffourd, Y.; Philippe, C.; Thauvin‐Robinet, C.; Guibaud, L.; Faivre, L.; Vabres, P.; Kuentz, P. Other Names: Tisserand Emilie investigator.; Chevarin Martin investigator.; Delanne Julian investigator.; Jouan Thibaud investigator.; Pöe Charlotte investigator.; Abel Carine investigator.; Allory Patrick investigator.; Amram Daniel investigator.; Attie‐Bitach Tania investigator.; Aziza Jacqueline investigat... Journal: Ultrasound in obstetrics & gynecology Issue: Volume 59:Number 4(2022) Page Start: 532 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Diffuse panbronchiolitis in an Asian immigrant. Issue 10 (October 1996) Authors: Brugiere, O.; Milleron, B.; Antoine, M.; Carette, M. F.; Philippe, C.; Mayaud, C. Journal: Thorax Issue: Volume 51:Issue 10(1996) Page Start: 1065 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the clinical spectrum of mosaic BRAF skin phenotypes. (11th June 2021) Authors: Sorlin, A.; Carmignac, V.; Amiel, J.; Boccara, O.; Fraitag, S.; Maruani, A.; Theiler, M.; Weibel, L.; Duffourd, Y.; Philippe, C.; Thauvin‐Robinet, C.; Faivre, L.; Rivière, J.‐B.; Vabres, P.; Kuentz, P. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 35:Number 10(2021) Page Start: e690 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Life stage dependent responses to desiccation risk in the annual killifish Nothobranchius wattersi. Issue 3 (30th July 2017) Authors: Grégoir, A. F.; Philippe, C.; Pinceel, T.; Reniers, J.; Thoré, E. S. J.; Vanschoenwinkel, B.; Brendonck, L. Journal: Journal of fish biology Issue: Volume 91:Issue 3(2017) Page Start: 880 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. OC18.04: Clinical and molecular data in case of prenatal localised overgrowth disorders: major implication of variants in the PI3K‐AKT‐mTOR signalling pathway. Issue Volume 58:Issue S1(2021)Supplement (14th October 2021) Authors: Bourgon, N.; Carmignac, V.; Sorlin, A.; Duffour, Y.; Philippe, C.; Thauvin, C.; Guibaud, L.; Faivre, L.; Vabres, P.; Kuentz, P. Journal: Ultrasound in obstetrics & gynecology Issue: Volume 58:Issue S1(2021)Supplement Page Start: 52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Parameter evaluation and fully-automated radiosynthesis of [11C]harmine for imaging of MAO-A for clinical trials. (March 2015) Authors: Philippe, C.; Zeilinger, M.; Mitterhauser, M.; Dumanic, M.; Lanzenberger, R.; Hacker, M.; Wadsak, W. Journal: Applied radiation and isotopes Issue: Volume 97(2015:Mar.) Page Start: 182 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Parameter evaluation and fully-automated radiosynthesis of [11C]harmine for imaging of MAO-A for clinical trials. (March 2015) Authors: Philippe, C.; Zeilinger, M.; Mitterhauser, M.; Dumanic, M.; Lanzenberger, R.; Hacker, M.; Wadsak, W. Journal: Applied radiation and isotopes Issue: Volume 97(2015:Mar.) Page Start: 182 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Rett‐like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5‐related disease. Issue 3 (11th May 2016) Authors: Allou, L.; Julia, S.; Amsallem, D.; El Chehadeh, S.; Lambert, L.; Thevenon, J.; Duffourd, Y.; Saunier, A.; Bouquet, P.; Pere, S.; Moustaïne, A.; Ruaud, L.; Roth, V.; Jonveaux, P.; Philippe, C. Journal: Clinical genetics Issue: Volume 91:Issue 3(2017) Page Start: 431 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗