E-LIB Suche - Ergebnisse für: Bouquillon, Sonia

1

Effects of eight neuropsychiatric copy number variants on h..:

Modenato, Claudia ; Kumar, Kuldeep ; Moreau, Clara...
Translational Psychiatry. 11 (2021) 1 - p. , 2021

2

Primrose syndrome: a phenotypic comparison of patients with..:

Juven, Aurélien ; Nambot, Sophie ; Piton, Amélie...
European Journal of Human Genetics. 28 (2020) 8 - p. 1044-1055 , 2020

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

3

Neurodevelopmental phenotype associated with CHD8-SUPT16H d..:

Smol, Thomas ; Thuillier, Caroline ; Boudry-Labis, Elise...
neurogenetics. 21 (2019) 1 - p. 67-72 , 2019

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

4

Developmental trajectories of neuroanatomical alterations a..:

Cárdenas-de-la-Parra, Alonso ; Martin-Brevet, Sandra ; Moreau, Clara...
NeuroImage. 203 (2019) - p. 116155 , 2019

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

5

Quantifying the Effects of 16p11.2 Copy Number Variants on ..:

Martin-Brevet, Sandra ; Rodríguez-Herreros, Borja ; Nielsen, Jared A....
Biological Psychiatry. 84 (2018) 4 - p. 253-264 , 2018

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

6

Interstitial 6q21q23 duplication - variant of variable phen..:

Srebniak, Malgorzata I. ; van Zutven, Laura J. C. M. ; Petit, Florence...
Molecular Cytogenetics. 9 (2016) 1 - p. , 2016

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

7

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/..

8

ELNgene triplication responsible for familial supravalvular..:

Guemann, Anne-Sophie ; Andrieux, Joris ; Petit, Florence...
Cardiology in the Young. 25 (2014) 4 - p. 712-717 , 2014

Link: https://doi.org/10.1017/..

9

Mirror extreme BMI phenotypes associated with gene dosage a..:

Jacquemont, Sébastien ; Reymond, Alexandre ; Zufferey, Flore...
Nature. 478 (2011) 7367 - p. 97-102 , 2011

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

10

A 5.3Mb deletion in chromosome 18q12.3 as the smallest regi..:

Bouquillon, Sonia ; Andrieux, Joris ; Landais, Emilie...
European Journal of Medical Genetics. 54 (2011) 2 - p. 194-197 , 2011

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

11

Xq12q13.1 microduplication encompassing the EFNB1 gene in a..:

Petit, Florence ; Andrieux, Joris ; Holder-Espinasse, Muriel...
European Journal of Medical Genetics. 54 (2011) 5 - p. e525-e527 , 2011

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

12

Further delineation of the 17p13.3 microdeletion involving ..:

Schiff, Manuel ; Delahaye, Andrée ; Andrieux, Joris...
European Journal of Medical Genetics. 53 (2010) 5 - p. 303-308 , 2010

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

13

Array-CGH detection of a de novo 0.8Mb deletion in 19q13.32..:

Leal, Teresinha ; Andrieux, Joris ; Duban-Bedu, Bénédicte...
European Journal of Medical Genetics. 52 (2009) 1 - p. 62-66 , 2009

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

14

Effects of eight neuropsychiatric copy number variants on h..:

Modenato, Claudia ; Kumar, Kuldeep ; Moreau, Clara...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41398-021-01490-9. , 2021

Link: https://hal.science/hal-..

15

Effects of eight neuropsychiatric copy number variants on h..:

Modenato, Claudia ; Kumar, Kuldeep ; Moreau, Clara...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41398-021-01490-9. , 2021

Link: https://hal.science/hal-..