E-LIB Suche - Ergebnisse für: Plessis, Ghislaine

1

Duplication of 10q24 locus: broadening the clinical and rad..:

Holder-Espinasse, Muriel ; Jamsheer, Aleksander ; Escande, Fabienne...
European Journal of Human Genetics. 27 (2019) 4 - p. 525-534 , 2019

Link: https://doi.org/10.1038/..

2

De novo TUBB2B mutation causes fetal akinesia deformation s..:

Laquerriere, Annie ; Gonzales, Marie ; Saillour, Yoann...
European Journal of Medical Genetics. 59 (2016) 4 - p. 249-256 , 2016

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

3

Microdeletions in 9q33.3-q34.11 in five patients with intel..:

Ehret, Julia K. ; Engels, Hartmut ; Cremer, Kirsten...
Molecular Cytogenetics. 8 (2015) 1 - p. , 2015

Link: https://doi.org/10.1186/..

4

15q11.2 microdeletion (BP1–BP2) and developmental delay, be..:

Vanlerberghe, Clémence ; Petit, Florence ; Malan, Valérie...
European Journal of Medical Genetics. 58 (2015) 3 - p. 140-147 , 2015

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

5

PDE3A mutations cause autosomal dominant hypertension with ..:

Maass, Philipp G ; Aydin, Atakan ; Luft, Friedrich C...
Nature Genetics. 47 (2015) 6 - p. 647-653 , 2015

Link: https://doi.org/10.1038/..

6

21q21 deletion involving NCAM2: Report of 3 cases with neur..:

Petit, Florence ; Plessis, Ghislaine ; Decamp, Matthieu...
European Journal of Medical Genetics. 58 (2015) 1 - p. 44-46 , 2015

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

7

Large national series of patients with Xq28 duplication inv..:

El Chehadeh, Salima ; Faivre, Laurence ; Mosca‐Boidron, Anne‐Laure...
American Journal of Medical Genetics Part A. 170 (2015) 1 - p. 116-129 , 2015

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

8

Congenital mirror movements: Mutational analysis ofRAD51and..:

Méneret, Aurélie ; Depienne, Christel ; Riant, Florence...
Neurology. 82 (2014) 22 - p. 1999-2002 , 2014

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

9

The first familial case of inherited 2q37.3 interstitial de..:

Jean‐Marçais, Nolwenn ; Decamp, Matthieu ; Gérard, Marion...
American Journal of Medical Genetics Part A. 167 (2014) 1 - p. 185-189 , 2014

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

10

Mutations in WNT10A are frequently involved in oligodontia ..:

Plaisancié, Julie ; Bailleul‐Forestier, Isabelle ; Gaston, Véronique...
American Journal of Medical Genetics Part A. 161 (2013) 4 - p. 671-678 , 2013

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

11

Duplication 16p13.3 and the CREBBP gene: Confirmation of th..:

Demeer, Bénédicte ; Andrieux, Joris ; Receveur, Aline...
European Journal of Medical Genetics. 56 (2013) 1 - p. 26-31 , 2013

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

12

Neurofibromatosis‐1 gene deletions and mutations in de novo..:

Boudry‐Labis, Elise ; Roche‐Lestienne, Catherine ; Nibourel, Olivier...
American Journal of Hematology. 88 (2013) 4 - p. 306-311 , 2013

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

13

De novo 15q13.3 microdeletion with cryptogenic west syndrom:

Lacaze, Elodie ; Gruchy, Nicolas ; Penniello‐Valette, Marie‐José...
American Journal of Medical Genetics Part A. 161 (2013) 10 - p. 2582-2587 , 2013

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

14

A novel microdeletion syndrome at 9q21.13 characterised by ..:

Boudry-Labis, Elise ; Demeer, Bénédicte ; Le Caignec, Cédric...
European Journal of Medical Genetics. 56 (2013) 3 - p. 163-170 , 2013

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

15

Clinical Comparison of Overlapping Deletions of 19p13.3:

Risheg, Hiba ; Pasion, Romela ; Sacharow, Stephanie...
American Journal of Medical Genetics Part A. 161 (2013) 5 - p. 1110-1116 , 2013

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