E-LIB Suche - Ergebnisse für: Jourdain, Anne‐Sophie

1

Identification of a novel CFAP61 homozygous splicing varian..:

Barbotin, Anne-Laure ; Boursier, Angèle ; Jourdain, Anne-Sophie...
Journal of Assisted Reproduction and Genetics. 41 (2024) 6 - p. 1499-1505 , 2024

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

2

PLS3 missense variants affecting the actin-binding domains ..:

Petit, Florence ; Longoni, Mauro ; Wells, Julie...
The American Journal of Human Genetics. 110 (2023) 10 - p. 1787-1803 , 2023

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

3

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/..

4

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/..

5

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/..

6

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/..

7

Blepharocheilodontic syndrome is a CDH1 pathway–related dis..:

Ghoumid, Jamal ; Stichelbout, Morgane ; Jourdain, Anne-Sophie...
Genetics in Medicine. 19 (2017) 9 - p. 1013-1021 , 2017

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

8

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

Haro, Endika ; Petit, Florence ; Pira, Charmaine...
#PLACEHOLDER_PARENT_METADATA_VALUE#. , 2021

Link: http://hdl.handle.net/10..

9

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

Jourdain, Anne-Sophie ; Petit, Florence ; Odou, Marie-Francoise...
10.1002/humu.23912. , 2021

Link: https://hdl.handle.net/2..

10

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

Haro, Endika ; Petit, Florence ; Pira, Charmaine U...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8452625/. , 2021

Link: http://www.ncbi.nlm.nih...

11

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

Jourdain, Anne-Sophie ; Petit, Florence ; Odou, Marie-Françoise...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.23912. , 2020

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

12

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

Jourdain, Anne-Sophie ; Petit, Florence ; Odou, Marie-Françoise...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.23912. , 2020

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

13

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

Jourdain, Anne-Sophie ; Petit, Florence ; Odou, Marie-Françoise...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.23912. , 2020

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

14

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

Jourdain, Anne-Sophie ; Petit, Florence ; Odou, Marie-Françoise...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.23912. , 2020

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

15

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

Jourdain, Anne-Sophie ; Petit, Florence ; Odou, Marie-Françoise...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.23912. , 2020

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