E-LIB Suche - Ergebnisse für: Rondeau, Sophie

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

Ciliopathy due to POC1A deficiency: clinical and metabolic ..:

Perge, Kevin ; Capel, Emilie ; Villanueva, Carine...
European Journal of Endocrinology. 190 (2024) 2 - p. 151-164 , 2024

Link: https://doi.org/10.1093/..

3

Oro-dental phenotyping and report of three families with RE..:

Resende, Kemelly Karolliny Moreira ; Riou, Margot Charlotte ; Yamaguti, Paulo Marcio...
European Journal of Human Genetics. 31 (2023) 11 - p. 1337-1341 , 2023

Link: https://doi.org/10.1038/..

4

Mild MDPL in a patient with a novel de novo missense varian..:

Chopra, Maya ; Caswell, Richard ; Barcia, Giulia...
European Journal of Human Genetics. 30 (2022) 8 - p. 960-966 , 2022

Link: https://doi.org/10.1038/..

5

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/..

6

Oral Phenotype of Singleton–Merten Syndrome: A Systematic R..:

Riou, Margot Charlotte ; de La Dure-Molla, Muriel ; Kerner, Stéphane...
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

7

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/..

8

Interplay between Histone and DNA Methylation Seen through ..:

Velasco, Guillaume ; Ulveling, Damien ; Rondeau, Sophie...
International Journal of Molecular Sciences. 22 (2021) 7 - p. 3735 , 2021

Link: https://doi.org/10.3390/..

9

HeterozygousHMGB1loss‐of‐function variants are associated w..:

Uguen, Kévin ; Krysiak, Kilannin ; Audebert‐Bellanger, Séverine...
Clinical Genetics. 100 (2021) 4 - p. 386-395 , 2021

Link: https://doi.org/10.1111/..

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

Prenatal‐onset of congenital neuronal ceroid lipofuscinosis..:

Chartier, Suzanne ; Boutaud, Lucile ; Le Guillou, Edouard...
Birth Defects Research. 113 (2021) 18 - p. 1324-1332 , 2021

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

12

MED12 missense mutation in a three-generation family. Clini..:

Rubinato, Elisa ; Rondeau, Sophie ; Giuliano, Fabienne...
European Journal of Medical Genetics. 63 (2020) 3 - p. 103768 , 2020

Link: https://doi.org/10.1016/..

13

Primrose syndrome: a phenotypic comparison of patients with..:

Juven, Aurélien ; Nambot, Sophie ; Piton, Amélie...
European Journal of Human Genetics. 28 (2020) 8 - p. 1044-1055 , 2020

Link: https://doi.org/10.1038/..

14

The Impact of Big Deal Breaks on Library Consortia: An Expl..:

Osterman, Anne C. ; Rondeau, Sophie ; Bowdoin, Jessica..
The Serials Librarian. 79 (2020) 1-2 - p. 153-162 , 2020

Link: https://doi.org/10.1080/..

15

FSHD1 and FSHD2 form a disease continuum:

Sacconi, Sabrina ; Briand-Suleau, Audrey ; Gros, Marilyn...
Neurology. 92 (2019) 19 - p. , 2019

Link: https://doi.org/10.1212/..