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Author/Creator Rooryck, C.

2. Fetal phenotypes in otopalatodigital spectrum disorders. Issue 3 (29th October 2015)

Authors:
Naudion, S.; Moutton, S.; Coupry, I.; Sole, G.; Deforges, J.; Guerineau, E.; Hubert, C.; Deves, S.; Pilliod, J.; Rooryck, C.; Abel, C.; Le Breton, F.; Collardeau‐Frachon, S.; Cordier, M.P.; Delezoide, A.L.; Goldenberg, A.; Loget, P.; Melki, J.; Odent, S.; Patrier, S.
Journal:
Clinical genetics
Issue:
Volume 89:Issue 3(2016)
Page Start:
371
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents. (26th June 2015)

Authors:
Houcinat, N.; Llanas, B.; Moutton, S.; Toutain, J.; Cailley, D.; Arveiler, B.; Combe, C.; Lacombe, D.; Rooryck, C.
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 11(2015:Nov.)
Page Start:
2714
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Performance of semiconductor sequencing platform for non‐invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting. (5th August 2019)

Authors:
El Khattabi, L. Allach; Brun, S.; Gueguen, P.; Chatron, N.; Guichoux, E.; Schutz, S.; Nectoux, J.; Sorlin, A.; Quere, M.; Boudjarane, J.; Tsatsaris, V.; Mandelbrot, L.; Schluth‐Bolard, C.; Dupont, J. M.; Rooryck, C.
Other Names:
Cormier Alexandre investigator.; Ferec Claude investigator.; Da Foncesca Pipoli Juliana investigator.; Letourneur Franck investigator.; Bonnet Céline investigator.; Jonveaux Philippe investigator.; Bardel Claire investigator.; Lagarde Arnaud investigator.; Badens Catherine investigator.; Levy Nic...
Journal:
Ultrasound in obstetrics & gynecology
Issue:
Volume 54:Number 2(2019)
Page Start:
246
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗