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Author/Creator Sanlaville, D.

11. Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. Issue 3 (18th May 2017)

Authors:
Lehman, N.; Mazery, A.C.; Visier, A.; Baumann, C.; Lachesnais, D.; Capri, Y.; Toutain, A.; Odent, S.; Mikaty, M.; Goizet, C.; Taupiac, E.; Jacquemont, M.L.; Sanchez, E.; Schaefer, E.; Gatinois, V.; Faivre, L.; Minot, D.; Kayirangwa, H.; Sang, K.‐H.L.Q.; Boddaert, N.
Journal:
Clinical genetics
Issue:
Volume 92:Issue 3(2017)
Page Start:
298
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

13. Refining the phenotypical and mutational spectrum of Taybi‐Linder syndrome. Issue 6 (2nd June 2016)

Authors:
Putoux, A.; Alqahtani, A.; Pinson, L.; Paulussen, A.D.C.; Michel, J.; Besson, A.; Mazoyer, S.; Borg, I.; Nampoothiri, S.; Vasiljevic, A.; Uwineza, A.; Boggio, D.; Champion, F.; de Die‐Smulders, C.E.; Gardeitchik, T.; van Putten, W.K.; Perez, M.J.; Musizzano, Y.; Razavi, F.; Drunat, S.
Journal:
Clinical genetics
Issue:
Volume 90:Issue 6(2016)
Page Start:
550
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

14. Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2. (June 2017)

Authors:
Chatron, N.; Møller, R.S.; Champaigne, N.L.; Kuechler, A.; Labalme, A.; Baggett, L.; Wieczorek, D.; Portes, V. des; Edery, P.; Gardella, E.; Scheffer, I.E.; Mefford, H.; Sanlaville, D.; Carvill, G.L.; Lesca, G.
Journal:
European journal of paediatric neurology
Issue:
Volume 21(2017)Supplement 1
Page Start:
e194
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

15. Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability. (17th September 2016)

Authors:
Jourdy, Y.; Chatron, N.; Carage, M.‐L.; Fretigny, M.; Meunier, S.; Zawadzki, C.; Gay, V.; Negrier, C.; Sanlaville, D.; Vinciguerra, C.
Journal:
Journal of thrombosis and haemostasis
Issue:
Volume 14:Number 10(2016:Oct.)
Page Start:
1988
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

17. Whole‐exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. Issue 2 (30th July 2015)

Authors:
Dimassi, S.; Labalme, A.; Ville, D.; Calender, A.; Mignot, C.; Boutry‐Kryza, N.; de Bellescize, J.; Rivier‐Ringenbach, C.; Bourel‐Ponchel, E.; Cheillan, D.; Simonet, T.; Maincent, K.; Rossi, M.; Till, M.; Mougou‐Zerelli, S.; Edery, P.; Saad, A.; Heron, D.; des Portes, V.; Sanlaville, D.
Journal:
Clinical genetics
Issue:
Volume 89:Issue 2(2016)
Page Start:
198
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗