E-LIB Suche - Ergebnisse für: Gruchy, Nicolas

1

3q29 duplications: A cohort of 46 patients and a literature..:

Massier, Marie ; Doco‐Fenzy, Martine ; Egloff, Matthieu...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024

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

2

MiR-4270 acts as a tumor suppressor by directly targeting B..:

Veys, Clément ; Boulouard, Flavie ; Benmoussa, Abderrahim...
Frontiers in Oncology. 13 (2023) - p. , 2023

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

3

A cryptic microdeletion del(12)(p11.21p11.23) within an unb..:

Ben-Mahmoud, Afif ; Kishikawa, Shotaro ; Gupta, Vijay...
Scientific Reports. 13 (2023) 1 - p. , 2023

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

4

Phenotypic and genotypic characterization of 1q21.1 copy nu..:

Bourgois, Alexia ; Bizaoui, Varoona ; Colson, Cindy...
American Journal of Medical Genetics Part A. 194 (2023) 3 - p. , 2023

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

5

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/..

6

Evidence for high breakpoint variability in 46, XX, SRY‐pos..:

Capron, Céline ; Januel, Louis ; Vieville, Gaëlle...
Andrology. 10 (2022) 8 - p. 1625-1631 , 2022

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

7

DLG4-related synaptopathy: a new rare brain disorder:

Rodríguez-Palmero, Agustí ; Boerrigter, Melissa Maria ; Gómez-Andrés, David...
Genetics in Medicine. 23 (2021) 5 - p. 888-899 , 2021

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

8

A novel synonymous variant in exon 1 of GNAS gene results i..:

Apetrei, Andreea ; Molin, Arnaud ; Gruchy, Nicolas...
Bone Reports. 14 (2021) - p. 101073 , 2021

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

9

Marine Collagen Hydrolysates Downregulate the Synthesis of ..:

Bourdon, Bastien ; Contentin, Romain ; Cassé, Frédéric...
International Journal of Molecular Sciences. 22 (2021) 2 - p. 580 , 2021

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

10

Marine Collagen Hydrolysates Promote Collagen Synthesis, Vi..:

Bourdon, Bastien ; Cassé, Frédéric ; Gruchy, Nicolas...
International Journal of Molecular Sciences. 22 (2021) 7 - p. 3693 , 2021

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

11

Chromosomal microarray analysis in fetuses with an isolated..:

Hureaux, Marguerite ; Guterman, Sarah ; Hervé, Bérénice...
Prenatal Diagnosis. 39 (2019) 6 - p. 464-470 , 2019

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

12

Risk estimation of uniparental disomy of chromosome 14 or 1..:

Moradkhani, Kamran ; Cuisset, Laurence ; Boisseau, Pierre...
Prenatal Diagnosis. 39 (2019) 11 - p. 986-992 , 2019

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

13

Maternal Transmission Ratio Distortion of GNAS Loss-of-Func..:

Snanoudj, Sarah ; Molin, Arnaud ; Colson, Cindy...
Journal of Bone and Mineral Research. 35 (2019) 5 - p. 913-919 , 2019

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

14

A Simple, Universal, and Cost-Efficient Digital PCR Method ..:

Cassinari, Kévin ; Quenez, Olivier ; Joly-Hélas, Géraldine...
Clinical Chemistry. 65 (2019) 9 - p. 1153-1160 , 2019

Link: https://doi.org/10.1373/..

15

High frequency of paternal iso or heterodisomy at chromosom..:

Colson, Cindy ; Decamp, Matthieu ; Gruchy, Nicolas...
Bone. 123 (2019) - p. 145-152 , 2019

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