E-LIB Suche - Ergebnisse für: Le Caignec, C.

1

Un évènement génétique complexe très rare à propos du gène ..:

Coppin, L. ; Grutzmacher, C. ; Crépin, M....
Annales d'Endocrinologie. 77 (2016) 4 - p. 280-281 , 2016

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

2

Distinct phenotype of PHF6 deletions in females:

Di Donato, N. ; Isidor, B. ; Lopez Cazaux, S....
European Journal of Medical Genetics. 57 (2014) 2-3 - p. 85-89 , 2014

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

3

G.P.156:

Mercier, S. ; Küry, S. ; Magot, A....
Neuromuscular Disorders. 24 (2014) 9-10 - p. 848 , 2014

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

4

HomozygousIL36RNmutation andNSD1duplication in a patient wi..:

Carapito, R. ; Isidor, B. ; Guerouaz, N....
British Journal of Dermatology. 172 (2014) 1 - p. 302-305 , 2014

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

5

Recurrent mutation in the PIEZO1 gene in two families of he..:

Beneteau, C. ; Thierry, G. ; Blesson, S....
Clinical Genetics. 85 (2013) 3 - p. 293-295 , 2013

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

6

Split hand/foot malformation with long‐bone deficiency and ..:

Petit, F. ; Jourdain, A.‐S. ; Andrieux, J....
Clinical Genetics. 85 (2013) 5 - p. 464-469 , 2013

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

7

Identification of two novel mutations in Shh long-range reg..:

Albuisson, J ; Isidor, B ; Giraud, M...
Clinical Genetics. 79 (2011) 4 - p. 371-377 , 2011

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

8

Corpus callosum abnormalities, intellectual disability, spe..:

Halgren, C ; Kjaergaard, S ; Bak, M...
Clinical Genetics. 82 (2011) 3 - p. 248-255 , 2011

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

9

Malformations capillaires multiples, épilepsie, microcéphal..:

Aubert, H. ; Barbarot, S. ; Beneteau, C....
Annales de Dermatologie et de Vénéréologie. 138 (2011) 12 - p. A173-A174 , 2011

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

10

Delineation of 15q13.3 microdeletions:

Masurel‐Paulet, A ; Andrieux, J ; Callier, P...
Clinical Genetics. 78 (2010) 2 - p. 149-161 , 2010

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

11

Tibial developmental field defect in valproic acid embryopa..:

Alessandri, J.L. ; Isidor, B. ; David, A....
American Journal of Medical Genetics Part A. 152A (2010) 11 - p. 2805-2809 , 2010

Link: https://doi.org/10.1002/..

12

P58 Familial frameshift SRY mutation inherited from a mosai..:

Le Caignec, C. ; Isidor, B. ; Capito, C....
Reproductive BioMedicine Online. 20 (2010) - p. S42 , 2010

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

13

Congenital skin pedicles with or without amniotic band sequ..:

Isidor, B. ; Baujat, G. ; Le Caignec, C....
American Journal of Medical Genetics Part A. 149A (2009) 8 - p. 1734-1739 , 2009

Link: https://doi.org/10.1002/..

14

Autosomal dominant spondylocarpotarsal synostosis syndrome:..:

Isidor, B. ; Cormier‐Daire, V. ; Le Merrer, M....
American Journal of Medical Genetics Part A. 146A (2008) 12 - p. 1593-1597 , 2008

Link: https://doi.org/10.1002/..

15

Prenatal diagnosis of Larsen syndrome caused by a mutation ..:

Winer, N. ; Kyndt, F. ; Paumier, A....
Prenatal Diagnosis. 29 (2008) 2 - p. 172-174 , 2008

Link: https://doi.org/10.1002/..