Suchergebnisse - "Gautier, Thierry"

PubPharm (25)

1

Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene

enthalten in: Clinical genetics | 2024

von Malbos, M. | Wakeling, E. | Gautier, T. | +26

2

Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene

enthalten in: Clinical Genetics | 2024

von Malbos, M. | Wakeling, E. | Gautier, T. | +26

3

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

enthalten in: American journal of human genetics | 2023

von Bogaert, E. | Garde, A. | Gautier, T. | +61

4

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

enthalten in: American journal of human genetics | 2022

von Thomas, Q. | Motta, M. | Gautier, T. | +60

5

Dual role of histone variant H3.3B in spermatogenesis : positive regulation of piRNA transcription and implication in X-chromosome inactivation

enthalten in: Nucleic acids research | 2022

von Fontaine, E. | Papin, C. | Martinez, G. | +13

6

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2021

von Thomas, Q. | Gautier, T. | Marafi, D. | +39

7

Semi-automated fact-checking of nucleotide sequence reagents in biomedical research publications : The Seek & Blastn tool

enthalten in: PloS one | 2019

von Labbé, C. | Grima, N. | Gautier, T. | +2

8

β1 integrins mediate the BMP2 dependent transcriptional control of osteoblast differentiation and osteogenesis

enthalten in: PloS one | 2018

von Brunner, M. | Mandier, N. | Gautier, T. | +5

9

The Flexible Ends of CENP-A Nucleosome Are Required for Mitotic Fidelity

enthalten in: Molecular cell | 2016

von Roulland, Y. | Ouararhni, K. | Naidenov, M. | +17

10

Using Runtime Systems Tools to Implement Efficient Preconditioners for Heterogeneous Architectures

in: Oil & Gas Science and Technology | 2016

von Roussel Adrien | Gratien Jean-Marc | Gautier Thierry