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Jourdain, Anne-Sophie
211  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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5

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/..
 
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6

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/..
 
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7

Recurrent "outsider" intronic variation in the SLC5A6 gene ..:

Mansour-Hendili, Lamisse ; Gitiaux, Cyril ; Harion, Madeleine...
Frontiers in Genetics.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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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..
 
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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..
 
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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...
 
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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-..
 
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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-..
 
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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-..
 
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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-..
 
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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-..
 
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