E-LIB Suche - Ergebnisse für: Thauvin-Robinet, C.

1

Incidental findings in a series of 2500 gene panel tests fo..:

Nambot, S. ; Sawka, C. ; Bertolone, G....
European Journal of Medical Genetics. 64 (2021) 5 - p. 104196 , 2021

Link: https://doi.org/10.1016/..

2

Re-focusing on Agnathia-Otocephaly complex:

Dubucs, C. ; Chassaing, N. ; Sergi, C....
Clinical Oral Investigations. 25 (2020) 3 - p. 1353-1362 , 2020

Link: https://doi.org/10.1007/..

3

Diagnostic criteria in Pai syndrome: results of a case seri..:

Morice, A. ; Galliani, E. ; Amiel, J....
International Journal of Oral and Maxillofacial Surgery. 48 (2019) 3 - p. 283-290 , 2019

Link: https://doi.org/10.1016/..

4

Secondary findings from next generation sequencing: Psychol..:

Houdayer, F. ; Putois, O. ; Babonneau, M.L....
European Journal of Medical Genetics. 62 (2019) 10 - p. 103711 , 2019

Link: https://doi.org/10.1016/..

5

Les modifications de pratique clinique liées à l'arrivée du..:

Demougeot, L. ; Houdayer, F. ; Pélissier, A....
Archives de Pédiatrie. 25 (2018) 2 - p. 77-83 , 2018

Link: https://doi.org/10.1016/..

6

Autosomal recessive variations of TBX6, from congenital sco..:

Lefebvre, M. ; Duffourd, Y. ; Jouan, T....
Clinical Genetics. 91 (2017) 6 - p. 908-912 , 2017

Link: https://doi.org/10.1111/..

7

Incidence des troubles neuropsychiatriques chez les patient..:

Maillot, F. ; Douillard, C. ; Feillet, F....
La Revue de Médecine Interne. 38 (2017) - p. A90-A91 , 2017

Link: https://doi.org/10.1016/..

8

Genetic counselling difficulties and ethical implications o..:

Lefebvre, M. ; Sanlaville, D. ; Marle, N....
Clinical Genetics. 89 (2016) 5 - p. 630-635 , 2016

Link: https://doi.org/10.1111/..

9

Mutation en mosaïque de KITLG dans l'hypermélanose nævoïde:

Sorlin, A. ; Maruani, A. ; Kuentz, P....
Annales de Dermatologie et de Vénéréologie. 143 (2016) 12 - p. S130-S131 , 2016

Link: https://doi.org/10.1016/..

10

Autosomal recessive truncatingMAB21L1mutation associated wi..:

Bruel, A.-L. ; Masurel-Paulet, A. ; Rivière, J.-B....
Clinical Genetics. 91 (2016) 2 - p. 333-338 , 2016

Link: https://doi.org/10.1111/..

11

Homozygous FIBP nonsense variant responsible of syndromic o..:

Thauvin-Robinet, C. ; Duplomb-Jego, L. ; Limoge, F....
Clinical Genetics. 89 (2016) 5 - p. e1-e4 , 2016

Link: https://doi.org/10.1111/..

12

Germline correction of an epimutation related to Silver-Rus..:

Bruno, C. ; Carmignac, V. ; Netchine, I....
Human Molecular Genetics. 24 (2015) 12 - p. 3314-3321 , 2015

Link: https://doi.org/10.1093/..

13

WS11.6 Newborn screening for cystic fibrosis: Rationale for..:

Munck, A. ; Audrézet, M.-P. ; Thauvin-Robinet, C....
Journal of Cystic Fibrosis. 14 (2015) - p. S23 , 2015

Link: https://doi.org/10.1016/..

14

Insulino-résistance extrême et lipoatrophie généralisée rév..:

Thauvin-Robinet, C. ; Reznik, Y. ; Auclair, M....
Annales d'Endocrinologie. 74 (2013) 4 - p. 273 , 2013

Link: https://doi.org/10.1016/..

15

Molecular findings and clinical data in a cohort of 150 pat..:

Chassaing, N. ; Causse, A. ; Vigouroux, A....
Clinical Genetics. 86 (2013) 4 - p. 326-334 , 2013

Link: https://doi.org/10.1111/..