E-LIB Suche - Ergebnisse für: Van den Bruel, A.

1

A new fortified high protein high energy paste greatly impr..:

Blanquet, M. ; Berland, P. ; Guiguet-auclair, C....
Clinical Nutrition ESPEN. 58 (2023) - p. 478 , 2023

2

Identification of the first homozygous intragenic deletion ..:

Viora‐Dupont, E. ; Denommé‐Pichon, A. ; Chevarin, M....
American Journal of Medical Genetics Part A. 191 (2023) 11 - p. 2728-2735 , 2023

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

3

Cost of exome analysis in patients with intellectual disabi..:

Soilly, AL ; Robert-Viard, C ; Besse, C...
BMC Health Services Research. 23 (2023) 1 - p. , 2023

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

4

Ptychographic 3D imaging of bone nanostructure around cemen..:

Sadetskaia, A. ; Palle, J. ; Wittig, N. K....
Acta Crystallographica Section A Foundations and Advances. 79 (2023) a2 - p. C1237-C1237 , 2023

Link: https://doi.org/10.1107/..

5

P64 An activin type II receptor ligand trap prevented loss ..:

Poulsen, MF. ; Fisher, F. ; Lachey, J....
Neuromuscular Disorders. 33 (2023) - p. S74-S75 , 2023

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

6

OC18.02: Exome sequencing during pregnancy for fetuses with..:

Bourgon, N. ; Lefebvre, M. ; Bruel, A....
Ultrasound in Obstetrics & Gynecology. 58 (2021) S1 - p. 52-52 , 2021

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

7

Secondary findings from whole-exome/genome sequencing evalu..:

Delanne, J. ; Nambot, S. ; Chassagne, A....
European Journal of Medical Genetics. 62 (2019) 6 - p. 103529 , 2019

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

8

Unexpected diagnosis of a SHH nonsense variant causing a va..:

Bruel, A.‐L. ; Thevenon, J. ; Huet, F....
Clinical Genetics. 94 (2018) 1 - p. 182-184 , 2018

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

9

Okur‐Chung neurodevelopmental syndrome: Eight additional ca..:

Chiu, A.T.G. ; Pei, S.L.C. ; Mak, C.C.Y....
Clinical Genetics. 93 (2018) 4 - p. 880-890 , 2018

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

10

Truncating variants of the DLG4 gene are responsible for in..:

Moutton, S. ; Bruel, A.‐L. ; Assoum, M....
Clinical Genetics. 93 (2018) 6 - p. 1172-1178 , 2018

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

11

INTU‐related oral‐facial‐digital syndrome type VI: A confir..:

Bruel, A.‐L. ; Levy, J. ; Elenga, N....
Clinical Genetics. 93 (2018) 6 - p. 1205-1209 , 2018

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

12

TBL1XR1 mutations in Pierpont syndrome are not restricted t..:

Lemattre, C. ; Thevenon, J. ; Duffourd, Y....
American Journal of Medical Genetics Part A. 176 (2018) 12 - p. 2813-2818 , 2018

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

13

Further delineation of a rare recessive encephalomyopathy l..:

Nambot, S. ; Gavrilov, D. ; Thevenon, J....
Clinical Genetics. 92 (2017) 2 - p. 188-198 , 2017

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

14

Autosomal recessive truncatingMAB21L1mutation associated wi..:

Bruel, A.-L. ; Masurel-Paulet, A. ; Rivière, J.-B....
Clinical Genetics. 91 (2016) 2 - p. 333-338 , 2016

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

15

Syndrome de Gordon : de l'importance de mesurer la pression..:

Bruel, A. ; Vargas-Poussou, R. ; Jeunemaitre, X....
Archives de Pédiatrie. 23 (2016) 8 - p. 827-831 , 2016

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