E-LIB Suche - Ergebnisse für: Manouvrier-Hanu, Sylvie

1

Executive functioning in adolescents and adults with Silver..:

Burgevin, Mélissa ; Lacroix, Agnès ; Ollivier, Fanny...
PLOS ONE. 18 (2023) 1 - p. e0279745 , 2023

Link: https://doi.org/10.1371/..

2

Monoallelic and biallelic variants in LEF1 are associated w..:

Dufour, William ; Alawbathani, Salem ; Jourdain, Anne-Sophie...
Genetics in Medicine. 24 (2022) 8 - p. 1708-1721 , 2022

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

3

Performance of meta-predictors for the classification of ME..:

Smol, Thomas ; Frénois, Frédéric ; Manouvrier-Hanu, Sylvie..
European Journal of Medical Genetics. 65 (2022) 1 - p. 104398 , 2022

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

4

Quality of life and mental health of adolescents and adults..:

Burgevin, Mélissa ; Lacroix, Agnès ; Bourdet, Karine...
European Journal of Medical Genetics. 65 (2022) 5 - p. 104482 , 2022

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

5

TRIT1 deficiency: Two novel patients with four novel varian..:

Smol, Thomas ; Brunelle, Perrine ; Caumes, Roseline...
European Journal of Medical Genetics. 65 (2022) 11 - p. 104603 , 2022

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

6

Identification of limb-specific Lmx1b auto-regulatory modul..:

Haro, Endika ; Petit, Florence ; Pira, Charmaine U....
Nature Communications. 12 (2021) 1 - p. , 2021

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

7

Comprehensive In Vivo Interrogation Reveals Phenotypic Impa..:

Kvon, Evgeny Z. ; Zhu, Yiwen ; Kelman, Guy...
Cell. 180 (2020) 6 - p. 1262-1271.e15 , 2020

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

8

Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1..:

Smol, Thomas ; Ribero-Karrouz, Wassila ; Edery, Patrick...
European Journal of Medical Genetics. 63 (2020) 4 - p. 103812 , 2020

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

9

Phenotypic spectrum of SHANK2-related neurodevelopmental di..:

Caumes, Roseline ; Smol, Thomas ; Thuillier, Caroline...
European Journal of Medical Genetics. 63 (2020) 12 - p. 104072 , 2020

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

10

Confirmation of risk of cancer in blepharocheilodontic synd..:

Ghoumid, Jamal ; Lejeune, Sophie ; Renaud, Florence...
Genetics in Medicine. 22 (2020) 10 - p. 1727-1728 , 2020

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

11

In cases of familial primary ovarian insufficiency and diso..:

Bertrand-Delepine, Juliette ; Manouvrier-hanu, Sylvie ; Cartigny, Maryse...
Reproductive BioMedicine Online. 40 (2020) 1 - p. 151-159 , 2020

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

12

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/..

13

Holt-Oram syndrome: clinical and molecular description of 7..:

Vanlerberghe, Clémence ; Jourdain, Anne-Sophie ; Ghoumid, Jamal...
European Journal of Human Genetics. 27 (2018) 3 - p. 360-368 , 2018

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

14

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead ..:

Frints, Suzanna G. M. ; Ozanturk, Aysegul ; Rodríguez Criado, Germán...
Molecular Psychiatry. 24 (2018) 11 - p. 1748-1768 , 2018

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

15

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-r..:

Ghoumid, Jamal ; Petit, Florence ; Boute-Benejean, Odile...
European Journal of Human Genetics. 25 (2017) 8 - p. 1011-1014 , 2017

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