E-LIB Suche - Ergebnisse für: Marle, N.

1

Xq28 duplication includingMECP2in six unreported affected f..:

El Chehadeh, S. ; Touraine, R. ; Prieur, F....
Clinical Genetics. 91 (2017) 4 - p. 576-588 , 2017

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

2

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/..

3

Mosaic‐activatingFGFR2mutation in two fetuses with papillom..:

Kuentz, P. ; Fraitag, S. ; Gonzales, M....
British Journal of Dermatology. 176 (2016) 1 - p. 204-208 , 2016

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

4

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/..

5

A prenatal case of inverted duplication with terminal delet..:

Mosca, A.L. ; Callier, P. ; Faivre, L....
American Journal of Medical Genetics Part A. 155 (2011) 8 - p. 2031-2034 , 2011

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

6

Refining the critical region for congenital diaphragmatic h..:

Mosca, A. L. ; Pinson, L. ; Andrieux, J....
Prenatal Diagnosis. 31 (2011) 9 - p. 912-914 , 2011

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

7

What can we learn from old microdeletion syndromes using ar..:

Mosca‐Boidron, A L ; Bouquillon, S ; Faivre, L...
Clinical Genetics. 82 (2011) 1 - p. 41-47 , 2011

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

8

Cytogenetic and array‐CGH characterization of a 6q27 deleti..:

Mosca, A.L. ; Callier, P. ; Masurel‐Paulet, A....
American Journal of Medical Genetics Part A. 152A (2010) 5 - p. 1314-1317 , 2010

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

9

Contribution of array CGH in prognosis and genetic counsell..:

Callier, P. ; Faivre, L. ; Pigeonnat, S....
Prenatal Diagnosis. 29 (2009) 10 - p. 1002-1005 , 2009

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

10

Polymicrogyria in a child with inv dup del(9p) and 22q11.2 ..:

Mosca, A.L. ; Callier, P. ; Faivre, L....
American Journal of Medical Genetics Part A. 149A (2009) 3 - p. 475-481 , 2009

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

11

Detection of an interstitial 3q21.1‐q21.3 deletion in a chi..:

Callier, P. ; Faivre, L. ; Marle, N....
American Journal of Medical Genetics Part A. 149A (2009) 6 - p. 1323-1326 , 2009

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

12

Array‐CGH in a series of 30 patients with mental retardatio..:

Callier, P. ; Faivre, L. ; Thauvin‐Robinet, C....
American Journal of Medical Genetics Part A. 146A (2008) 16 - p. 2109-2115 , 2008

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

13

Syndromic encephalocele in a fetal case with a 1p35‐pter de..:

Thauvin‐Robinet, C. ; Callier, P. ; Laurent, N....
Prenatal Diagnosis. 27 (2007) 6 - p. 555-559 , 2007

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

14

Untreated growth hormone deficiency with extremely short st..:

Callier, P. ; Faivre, L. ; Marle, N....
European Journal of Medical Genetics. 50 (2007) 6 - p. 455-464 , 2007

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

15

Fortuitous FISH diagnosis of an interstitial microdeletion ..:

Mosca, A.L. ; Callier, P. ; Leheup, B....
American Journal of Medical Genetics Part A. 143A (2007) 12 - p. 1342-1347 , 2007

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