E-LIB Suche - Ergebnisse für: Aboura, A.

1

Molecular characterization of 39 de novosSMC: contribution ..:

Marle, N. ; Martinet, D. ; Aboura, A....
Clinical Genetics. 85 (2013) 3 - p. 233-244 , 2013

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

2

Beckwith–Wiedemann syndrome and long QT syndrome due to fam..:

Kaltenbach, S ; Capri, Y ; Rossignol, S...
Clinical Genetics. 84 (2012) 1 - p. 78-81 , 2012

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

3

Maternal transmission of interstitial 8p23.1 deletion detec..:

Guimiot, F. ; Dupont, C. ; Fuentes‐Duarte, A....
American Journal of Medical Genetics Part A. 161 (2012) 1 - p. 208-213 , 2012

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

4

3D position of pericentromeric heterochromatin within the n..:

Dupont, C ; Guimiot, F ; Perrin, L...
Clinical Genetics. 82 (2011) 2 - p. 187-192 , 2011

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

5

Prenatal BACs‐on‐Beads™: a new technology for rapid detecti..:

Vialard, F. ; Simoni, G. ; Aboura, A....
Prenatal Diagnosis. 31 (2011) 5 - p. 500-508 , 2011

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

6

Chromosome 22q13.3 deletion syndrome with a de novo interst..:

Delahaye, A. ; Toutain, A. ; Aboura, A....
European Journal of Medical Genetics. 52 (2009) 5 - p. 328-332 , 2009

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

7

Semilobar holoprosencephaly prenatal diagnosis: an unexpect..:

Kanafani, S. ; Aboura, A. ; Pipiras, E....
Prenatal Diagnosis. 27 (2007) 3 - p. 279-284 , 2007

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

8

Pure and complete trisomy 18p due to a supernumerary marker..:

Mabboux, P. ; Brisset, S. ; Aboura, A....
American Journal of Medical Genetics Part A. 143A (2007) 7 - p. 727-733 , 2007

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

9

Cryptic Xp duplication including the SHOX gene in a woman w..:

Tachdjian, G. ; Aboura, A. ; Portnoi, M.-F....
Human Reproduction. 23 (2007) 1 - p. 222-226 , 2007

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

10

Apport de la CGH-array au diagnostic prénatal d'anomalies g..:

Benzacken, B. ; Tabet, A.-C. ; Aboura, A....
IRBM. 28 (2007) 5-6 - p. 239-244 , 2007

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

11

Terminal 14q32.33 deletion: Genotype–phenotype correlation:

Maurin, M‐L. ; Brisset, S. ; Le Lorc'h, M....
American Journal of Medical Genetics Part A. 140A (2006) 21 - p. 2324-2329 , 2006

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

12

Cytogenetic, molecular and testicular tissue studies in an ..:

Brisset, S. ; Izard, V. ; Misrahi, M....
Human Reproduction. 20 (2005) 8 - p. 2168-2172 , 2005

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

13

De novo interstitial direct duplication of Xq21.1q25 associ..:

Tachdjian, G. ; Aboura, A. ; Benkhalifa, M....
American Journal of Medical Genetics Part A. 131A (2004) 3 - p. 273-280 , 2004

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

14

Fetal phenotype of Prader–Willi syndrome due to maternal di..:

L'Herminé, A. Coulomb ; Aboura, A. ; Brisset, S....
Prenatal Diagnosis. 23 (2003) 11 - p. 938-943 , 2003

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

15

Female pseudohermaphroditism in a fetus with a deletion 9(q..:

Coulomb L'Herminé, A. ; Aboura, A. ; Simon‐Bouy, B....
Prenatal Diagnosis. 22 (2002) 8 - p. 652-655 , 2002

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