E-LIB Suche - Ergebnisse für: Brunelle, Perrine

1

Expanded phenotypic spectrum of UDP‐glucose‐6‐dehydrogenase..:

Bordeneuve‐Plante, Pauline ; Boussion, Simon ; Rama, Mélanie...
American Journal of Medical Genetics Part A. , 2024

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

2

Clinical spectrum of rare bone fragility disorders and resp..:

Charpié, Maëlle ; Brunelle, Perrine ; Baujat, Geneviève...
European Journal of Human Genetics. , 2024

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

3

Novel Genetic and Phenotypic Expansion in Ameliorated PUF60..:

Baum, Emily ; Huang, Wenming ; Vincent-Delorme, Catherine...
International Journal of Molecular Sciences. 25 (2024) 4 - p. 2053 , 2024

Link: https://doi.org/10.3390/..

4

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
European Journal of Human Genetics. , 2023

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

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

A second cohort of CHD3 patients expands the molecular mech..:

Drivas, Theodore G. ; Li, Dong ; Nair, Divya...
European Journal of Human Genetics. 28 (2020) 10 - p. 1422-1431 , 2020

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

7

Homozygous Loss-of-Function Mutations in CCDC134 Are Respon..:

Dubail, Johanne ; Brunelle, Perrine ; Baujat, Geneviève...
Journal of Bone and Mineral Research. 35 (2020) 8 - p. 1470-1480 , 2020

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

8

TAR syndrome: Clinical and molecular characterization of a ..:

Boussion, Simon ; Escande, Fabienne ; Jourdain, Anne‐Sophie...
Human Mutation. 41 (2020) 7 - p. 1220-1225 , 2020

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

9

WNT10B variants in split hand/foot malformation: Report of ..:

Brunelle, Perrine ; Jourdain, Anne‐Sophie ; Escande, Fabienne...
American Journal of Medical Genetics Part A. 179 (2019) 7 - p. 1351-1356 , 2019

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

10

Multiplex targeted high‐throughput sequencing in a series o..:

Jourdain, Anne‐Sophie ; Petit, Florence ; Odou, Marie‐Françoise...
Human Mutation. 41 (2019) 1 - p. 222-239 , 2019

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

11

Expanding the clinical spectrum of hereditary fibrosing poi..:

Mercier, Sandra ; Küry, Sébastien ; Salort-Campana, Emmanuelle...
Orphanet Journal of Rare Diseases. 10 (2015) 1 - p. , 2015

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

12

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01474-x. , 2024

Link: https://univ-rennes.hal...

13

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01474-x. , 2023

Link: https://univ-rennes.hal...

14

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01474-x. , 2023

Link: https://univ-rennes.hal...

15

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01474-x. , 2023

Link: https://univ-rennes.hal...