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Cuinat, Silvestre
21
results:
Search for persons
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Format
Online (21)
Mediatypes
Articles (Online) (10)
OpenAccess-fulltext (11)
Sorted by: Relevance
Sorted by: Year
?
1
Extending the clinical spectrum of X-linked Tonne-Kalscheue..:
Cuinat, Silvestre
;
Quélin, Chloé
;
Effray, Claire
...
Journal of Medical Genetics. , 2024
Link:
https://doi.org/10.1136/..
?
2
Protéasomopathies neurodéveloppementales : une nouvelle cla..:
Cuinat, Silvestre
;
Bézieau, Stéphane
;
Deb, Wallid
...
médecine/sciences. 40 (2024) 2 - p. 176-185 , 2024
Link:
https://doi.org/10.1051/..
?
3
PSMD11 loss-of-function variants correlate with a neurobeha..:
Deb, Wallid
;
Rosenfelt, Cory
;
Vignard, Virginie
...
The American Journal of Human Genetics. 111 (2024) 7 - p. 1352-1369 , 2024
Link:
https://doi.org/10.1016/..
?
4
PHGDH-related microcephalic dwarfism in two fetuses: Expand..:
Cuinat, Silvestre
;
Quélin, Chloé
;
Pasquier, Laurent
...
European Journal of Medical Genetics. 66 (2023) 11 - p. 104852 , 2023
Link:
https://doi.org/10.1016/..
?
5
Understanding neurodevelopmental proteasomopathies as new r..:
Cuinat, Silvestre
;
Bézieau, Stéphane
;
Deb, Wallid
...
Genes & Diseases. , 2023
Link:
https://doi.org/10.1016/..
?
6
Response to Chunquan Cai et al:
Cuinat, Silvestre
Genetics in Medicine. , 2023
Link:
https://doi.org/10.1016/..
?
7
Two novel MBTPS2 missense mutations impairing S2P proteolyt..:
Caengprasath, Natarin
;
Nizon, Mathilde
;
Panchaprateep, Ratchathorn
...
Journal of Dermatological Science. 112 (2023) 3 - p. 166-169 , 2023
Link:
https://doi.org/10.1016/..
?
8
Loss-of-function variants in SRRM2 cause a neurodevelopment..:
Cuinat, Silvestre
;
Nizon, Mathilde
;
Isidor, Bertrand
...
Genetics in Medicine. 24 (2022) 8 - p. 1774-1780 , 2022
Link:
https://doi.org/10.1016/..
?
9
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/..
?
10
Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset..:
Ruault, Valentin
;
Yauy, Kevin
;
Fabre, Aurélie
...
Arthritis & Rheumatology. 72 (2020) 10 - p. 1689-1693 , 2020
Link:
https://doi.org/10.1002/..
?
11
Assortative mating and parental genetic relatedness drive t..:
Smolen, Corrine
;
Jensen, Matthew
;
Dyer, Lisa
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10246151/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
12
Understanding neurodevelopmental proteasomopathies as new r..:
Cuinat, Silvestre
;
Bézieau, Stéphane
;
Deb, Wallid
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gendis.2023.101130. , 2023
Link:
https://nantes-universit..
?
13
Understanding neurodevelopmental proteasomopathies as new r..:
Cuinat, Silvestre
;
Bézieau, Stéphane
;
Deb, Wallid
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gendis.2023.101130. , 2023
Link:
https://nantes-universit..
?
14
Understanding neurodevelopmental proteasomopathies as new r..:
Cuinat, Silvestre
;
Bézieau, Stéphane
;
Deb, Wallid
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gendis.2023.101130. , 2023
Link:
https://nantes-universit..
?
15
Understanding the new BRD4-related syndrome: Clinical and g..:
Jouret, Guillaume
;
Heide, Solveig
;
Sorlin, Arthur
...
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14141. , 2022
Link:
https://orbi.uliege.be/h..
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