11. Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia. (1st March 2019) Authors: Heinz, L.; Bourrat, E.; Vabres, P.; Thevenon, J.; Hotz, A.; Hörer, S.; Küsel, J.; Zimmer, A.D.; Alter, S.; Happle, R.; Fischer, J. Journal: British journal of dermatology Issue: Volume 180:Number 3(2019) Page Start: 657 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia. (30th September 2018) Authors: Heinz, L.; Bourrat, E.; Vabres, P.; Thevenon, J.; Hotz, A.; Hörer, S.; Küsel, J.; Zimmer, A.D.; Alter, S.; Happle, R.; Fischer, J. Journal: British journal of dermatology Issue: Volume 180:Number 3(2019) Page Start: 657 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. Mosaicism in women with focal dermal hypoplasia. (1st March 2019) Authors: Heinz, L.; Bourrat, E.; Vabres, P.; Thevenon, J.; Hotz, A.; Hörer, S.; Küsel, J.; Zimmer, A.D.; Alter, S.; Happle, R.; Fischer, J. Journal: British journal of dermatology Issue: Volume 180:Number 3(2019) Page Start: e81 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. Mosaic‐activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus. (1st January 2017) Authors: Kuentz, P.; Fraitag, S.; Gonzales, M.; Dhombres, F.; St‐Onge, J.; Duffourd, Y.; Joyé, N.; Jouannic, J.‐M.; Picard, A.; Marle, N.; Thevenon, J.; Thauvin‐Robinet, C.; Faivre, L.; Rivière, J.‐B.; Vabres, P. Journal: British journal of dermatology Issue: Volume 176:Number 1(2017) Page Start: 204 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Mosaic‐activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus. (2nd October 2016) Authors: Kuentz, P.; Fraitag, S.; Gonzales, M.; Dhombres, F.; St‐Onge, J.; Duffourd, Y.; Joyé, N.; Jouannic, J.‐M.; Picard, A.; Marle, N.; Thevenon, J.; Thauvin‐Robinet, C.; Faivre, L.; Rivière, J.‐B.; Vabres, P. Journal: British journal of dermatology Issue: Volume 176:Number 1(2017) Page Start: 204 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. P904: CILTACABTAGENE AUTOLEUCEL VS TREATMENTS FROM REAL-WORLD CLINICAL PRACTICE FOR TRIPLE CLASS EXPOSED PATIENTS WITH MULTIPLE MYELOMA: ADJUSTED COMPARISONS BASED ON CARTITUDE-1 AND THE EMMY FRENCH COHORT. (23rd June 2022) Authors: Decaux, O.; Hulin, C.; Perrot, A.; Macro, M.; Frenzel, L.; Diels, J.; Perualila, N. J.; Ghilotti, F.; Haefliger, B.; Goldsztajn, E.; Vernet, S.; Thevenon, J.; Willaime, M.; Texier, N.; Schecter, J. M.; Madduri, D.; Jackson, C.; Valluri, S.; Moreau, P. Journal: HemaSphere Issue: Volume 6(2022)Supplement 3 Page Start: 795 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. 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) ↗
18. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller‐Gerold syndromes. (26th March 2014) Authors: Piard, J.; Aral, B.; Vabres, P.; Holder‐Espinasse, M.; Mégarbané, A.; Gauthier, S.; Capra, V.; Pierquin, G.; Callier, P.; Baumann, C.; Pasquier, L.; Baujat, G.; Martorell, L.; Rodriguez, A.; Brady, A. F.; Boralevi, F.; González‐Enseñat, M. A.; Rio, M.; Bodemer, C.; Philip, N. Journal: Clinical genetics Issue: Volume 87:Number 3(2015:Mar.) Page Start: 244 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation. Issue 12 (26th October 2018) Authors: Lemattre, C.; Thevenon, J.; Duffourd, Y.; Nambot, S.; Haquet, E.; Vuadelle, B.; Genevieve, D.; Sarda, P.; Bruel, A. L.; Kuentz, P.; Wells, C. F.; Faivre, L.; Willems, M. Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: 2813 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly. Issue 1 (2nd March 2018) Authors: Bruel, A.‐L.; Thevenon, J.; Huet, F.; Jean‐Marcais, N.; Odent, S.; Dubourg, C.; Lehalle, D.; Tran Mau‐Them, F.; Philippe, C.; Moutton, S.; Houcinat, N.; Gay, S.; Guibaud, L.; Duffourd, Y.; Rivière, J.‐B.; Faivre, L.; Thauvin‐Robinet, C. Journal: Clinical genetics Issue: Volume 94:Issue 1(2018) Page Start: 182 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗