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Michot, Caroline
339
results:
Search for persons
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Format
Online (339)
Mediatypes
Articles (Online) (86)
OpenAccess-fulltext (253)
Languages
english (323)
french (15)
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1
Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal..:
Cuvelier, Vivien
;
Trost, Detlef
;
Stichelbout, Morgane
...
Prenatal Diagnosis. , 2024
Link:
https://doi.org/10.1002/..
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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
Loss-of-function variants in ERF are associated with a Noon..:
Dentici, Maria Lisa
;
Niceta, Marcello
;
Lepri, Francesca Romana
...
European Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1038/..
?
4
Identification of kinesin family member (KIF22) homozygous ..:
Dubail, Johanne
;
Rondeau, Sophie
;
Michot, Caroline
...
Journal of Bone and Mineral Research. 39 (2024) 3 - p. 287-297 , 2024
Link:
https://doi.org/10.1093/..
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5
Allogeneic bone marrow transplantation in craniometaphyseal..:
Morelle, Guillaume
;
Breton, Sylvain
;
Robert, Matthieu P
...
The Lancet. 403 (2024) 10439 - p. 1893-1894 , 2024
Link:
https://doi.org/10.1016/..
?
6
Deficiency of the minor spliceosome component U4atac snRNA ..:
Khatri, Deepak
;
Putoux, Audrey
;
Cologne, Audric
...
Proceedings of the National Academy of Sciences. 120 (2023) 9 - p. , 2023
Link:
https://doi.org/10.1073/..
?
7
Clinical heterogeneity of NADSYN1‐associated VCRL syndrome:
Aubert‐Mucca, Marion
;
Janel, Caroline
;
Porquet‐Bordes, Valérie
...
Clinical Genetics. 104 (2023) 1 - p. 114-120 , 2023
Link:
https://doi.org/10.1111/..
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8
Natural history of Myhre syndrome:
Yang, David Dawei
;
Rio, Marlene
;
Michot, Caroline
...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
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9
Retrospective evaluation of clinical and molecular data of ..:
Ranza, Emmanuelle
;
Le Gouez, Morgane
;
Guimier, Anne
...
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 77-83 , 2022
Link:
https://doi.org/10.1002/..
?
10
A novel COL1A1 variant in a family with clinical features o..:
Foy, Malika
;
De Mazancourt, Philippe
;
Métay, Corinne
...
Clinical Case Reports. 9 (2021) 9 - p. , 2021
Link:
https://doi.org/10.1002/..
?
11
Geleophysic and acromicric dysplasias: natural history, gen..:
Marzin, Pauline
;
Thierry, Briac
;
Dancasius, Andrea
...
Genetics in Medicine. 23 (2021) 2 - p. 331-340 , 2021
Link:
https://doi.org/10.1038/..
?
12
Growth charts in Cockayne syndrome type 1 and type 2:
Baer, Sarah
;
Tuzin, Nicolas
;
Kang, Peter B.
...
European Journal of Medical Genetics. 64 (2021) 1 - p. 104105 , 2021
Link:
https://doi.org/10.1016/..
?
13
Sleep‐disordered breathing and its management in children w..:
Nguyen, Duy Bo
;
Khirani, Sonia
;
Griffon, Lucie
...
American Journal of Medical Genetics Part A. 185 (2021) 7 - p. 2108-2118 , 2021
Link:
https://doi.org/10.1002/..
?
14
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/..
?
15
A new case of KIAA0753-related variant of Jeune asphyxiatin..:
Faudi, Emilien
;
Brischoux-Boucher, Elise
;
Huber, Céline
...
European Journal of Medical Genetics. 63 (2020) 4 - p. 103823 , 2020
Link:
https://doi.org/10.1016/..
1-15