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Jouret, Guillaume
78
results:
Search for persons
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Format
Online (78)
Mediatypes
Articles (Online) (15)
OpenAccess-fulltext (63)
Languages
english (77)
french (1)
Sorted by: Relevance
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?
1
Natural history of adults with KBG syndrome: A physician-re..:
Bayat, Allan
;
Grimes, Hannah
;
de Boer, Elke
...
Genetics in Medicine. 26 (2024) 8 - p. 101170 , 2024
Link:
https://doi.org/10.1016/..
?
2
Compound genetic etiology in a patient with a syndrome incl..:
Le Collen, Lauriane
;
Delemer, Brigitte
;
Spodenkiewicz, Marta
...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
?
3
FOSL2 truncating variants in the last exon cause a neurodev..:
Cospain, Auriane
;
Rivera-Barahona, Ana
;
Dumontet, Erwan
...
Genetics in Medicine. 24 (2022) 12 - p. 2475-2486 , 2022
Link:
https://doi.org/10.1016/..
?
4
1p36 deletion syndrome: Review and mapping with further cha..:
Jacquin, Clémence
;
Landais, Emilie
;
Poirsier, Céline
...
American Journal of Medical Genetics Part A. 191 (2022) 2 - p. 445-458 , 2022
Link:
https://doi.org/10.1002/..
?
5
Natural history of KBG syndrome in a large European cohort:
Loberti, Lorenzo
;
Bruno, Lucia Pia
;
Granata, Stefania
...
Human Molecular Genetics. 31 (2022) 24 - p. 4131-4142 , 2022
Link:
https://doi.org/10.1093/..
?
6
Understanding the new BRD4‐related syndrome: Clinical and g..:
Jouret, Guillaume
;
Heide, Solveig
;
Sorlin, Arthur
...
Clinical Genetics. 102 (2022) 2 - p. 117-122 , 2022
Link:
https://doi.org/10.1111/..
?
7
Clinical and genomic delineation of the new proximal 19p13...:
Jouret, Guillaume
;
Egloff, Matthieu
;
Landais, Emilie
...
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 52-63 , 2022
Link:
https://doi.org/10.1002/..
?
8
Clinical Genetics of Prolidase Deficiency: An Updated Revie:
Spodenkiewicz, Marta
;
Spodenkiewicz, Michel
;
Cleary, Maureen
...
Biology. 9 (2020) 5 - p. 108 , 2020
Link:
https://doi.org/10.3390/..
?
9
1p36 deletion syndrome: Review and mapping with further cha..:
Jacquin, Clémence
;
Landais, Emilie
;
Poirsier, Céline
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.63041. , 2023
Link:
https://hal.science/hal-..
?
10
1p36 deletion syndrome: Review and mapping with further cha..:
Jacquin, Clémence
;
Landais, Emilie
;
Poirsier, Céline
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.63041. , 2023
Link:
https://hal.science/hal-..
?
11
1p36 deletion syndrome: Review and mapping with further cha..:
Jacquin, Clémence
;
Landais, Emilie
;
Poirsier, Céline
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.63041. , 2023
Link:
https://hal.science/hal-..
?
12
1p36 deletion syndrome: Review and mapping with further cha..:
Jacquin, Clémence
;
Landais, Emilie
;
Poirsier, Céline
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.63041. , 2023
Link:
https://hal.science/hal-..
?
13
1p36 deletion syndrome: Review and mapping with further cha..:
Jacquin, Clémence
;
Landais, Emilie
;
Poirsier, Céline
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.63041. , 2023
Link:
https://hal.science/hal-..
?
14
1p36 deletion syndrome: Review and mapping with further cha..:
Jacquin, Clémence
;
Landais, Emilie
;
Poirsier, Céline
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.63041. , 2023
Link:
https://hal.science/hal-..
?
15
1p36 deletion syndrome: Review and mapping with further cha..:
Jacquin, Clémence
;
Landais, Emilie
;
Poirsier, Céline
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.63041. , 2023
Link:
https://hal.science/hal-..
1-15
