E-LIB Suche - Ergebnisse für: Moncla, A

1

A French collaborative survey of 272 fetuses with 22q11.2 d..:

Besseau-Ayasse, J. ; Violle-Poirsier, C. ; Bazin, A....
Prenatal Diagnosis. 34 (2014) 5 - p. 424-430 , 2014

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

2

Épisodes sensitifs et/ou moteurs brachiofaciaux prolongés, ..:

Aubert, S. ; Moncla, A. ; Philip, N....
Revue Neurologique. 169 (2013) - p. A16 , 2013

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

3

Use of DOP-PCR for amplification and labeling of BAC DNA fo..:

Darouich, S ; Popovici, C ; Missirian, C.
Biotechnic & Histochemistry. 87 (2011) 2 - p. 117-121 , 2011

Link: https://doi.org/10.3109/..

4

Periventricular heterotopia, mental retardation, and epilep..:

Cardoso, C. ; Boys, A. ; Parrini, E....
Neurology. 72 (2009) 9 - p. 784-792 , 2009

Link: https://doi.org/10.1212/..

5

Syndrome d'Angelman : aspects cliniques et évolution:

Livet, M.O. ; Moncla, A.
Revue Neurologique. 163 (2007) 4 - p. 249 , 2007

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

6

Identification of TRAF6-dependent NEMO polyubiquitination s..:

Sebban-Benin, H. ; Pescatore, A. ; Fusco, F....
Human Molecular Genetics. 17 (2007) 4 - p. 639-639 , 2007

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

7

Spectrum and distribution of MECP2 mutations in 424 Rett sy..:

Philippe, C. ; Villard, L. ; De Roux, N....
European Journal of Medical Genetics. 49 (2006) 1 - p. 9-18 , 2006

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

8

Strategies for preimplantation genetic diagnosis of Angelma..:

Girardet, A ; Moncla, A ; Hamamah, S.
Reproductive BioMedicine Online. 10 (2005) 4 - p. 519-526 , 2005

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

9

Unusual phenotype with progressive vertebral fusion in a gi..:

Philip, N. ; Colleaux, L. ; Sigaudy, S....
American Journal of Medical Genetics Part A. 134A (2005) 1 - p. 39-44 , 2005

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

10

Costello syndrome: report of six patients including one wit..:

Sigaudy, S. ; Vittu, G. ; David, A....
European Journal of Pediatrics. 159 (2000) 3 - p. 139-142 , 2000

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

11

Phénotypes neuropsychologiques des génopathies:

Livet, M.O. ; Cournelle, M.A. ; Moncla, A..
Archives de Pédiatrie. 7 (2000) - p. 112s-113s , 2000

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

12

SHOX gene mutations and deletions in dyschondrosteosis or L..:

Cormier‐Daire, V ; Belin, V ; Cusin, V...
Acta Paediatrica. 88 (1999) s433 - p. 55-59 , 1999

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

13

Microcephalic osteodysplastic primordial dwarfism Taybi-Lin..:

Sigaudy, S. ; Toutain, A. ; Moncla, A....
American Journal of Medical Genetics. 80 (1998) 1 - p. 16-24 , 1998

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

14

Congenital bowing of the long bones in two fetuses presenti..:

Sigaudy, S ; Moncla, A ; Fredouille, C...
Clinical Dysmorphology. 7 (1998) 4 - p. 257-262 , 1998

Link: https://doi.org/10.1097/..

15

Syndrome d'Angelman: corrélations génotype-phénotype: évide..:

Livet, MO ; Malzac, P ; Moncla, A
Archives de Pédiatrie. 5 (1998) 10 - p. 1176-1177 , 1998

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