E-LIB Suche - Ergebnisse für: Michot, Caroline

1

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/..

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

Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal..:

Cuvelier, Vivien ; Trost, Detlef ; Stichelbout, Morgane...
Prenatal Diagnosis. , 2024

Link: https://doi.org/10.1002/..

4

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/..

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/..

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/..

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

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/..

11

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/..

12

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/..

13

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/..

14

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/..

15

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/..