- issue: 12 - volume: 8 - pages: .

Among the aortic valve diseases, the bicuspid aortic valve (BAV) occurs when the aortic valve has two leaflets (cusps), rather than three, and represents the most common form of congenital cardiac...
J Cardiovasc Dev Dis - issue: 4 - volume: 6 - pages: .

- issue: 4 - volume: 8 - pages: 252-255.

- issue: 6 - volume: 77 - pages: 619-637.

Objective: To investigate the distribution of cytosine-guanine dinucleotide (CpG) sites with a variable level of DNA methylation of the D4Z4 macrosatellite element in patients with facioscapulohumeral...
Neurol Genet - issue: 6 - volume: 5 - pages: e372.

This review is the second part of the workshop on digital PCR (dPCR) proposed by the working group of the French society of clinical biology. The first part of the paper discusses the advantages and...
Ann Biol Clin (Paris) - issue: 6 - volume: 77 - pages: 619-637.

OBJECTIVES: Nuclear imaging findings by virtue of phenotyping disease heavily depend on genetic background, metabolites, cell membrane specific targets and signalling pathways. PPGL related to...
Clin Endocrinol (Oxf) - issue: 6 - volume: 91 - pages: 879-884.

J Clin Endocrinol Metab - issue: 12 - volume: 104 - pages: 5791-5792.

Pallidal deep brain stimulation is an established treatment in dystonia. Available data on the effect in DYT-THAP1 dystonia (also known as DYT6 dystonia) are scarce and long-term follow-up studies are...
- issue: 12 - volume: 8 - pages: .

Pathogenic variants in the TRAPPC6B gene were recently found to be associated in three consanguineous families, with microcephaly, epilepsy, and brain malformations. Here, we report on a 3.5-year-old...
- issue: 4 - volume: 8 - pages: 252-255.

This review is the second part of the workshop on digital PCR (dPCR) proposed by the working group of the French society of clinical biology. The first part of the paper discusses the advantages and...
- issue: 6 - volume: 77 - pages: 619-637.

Pathogenic variants in the TRAPPC6B gene were recently found to be associated in three consanguineous families, with microcephaly, epilepsy, and brain malformations. Here, we report on a 3.5-year-old...
J Pediatr Genet - issue: 4 - volume: 8 - pages: 252-256.

Pathogenic variants in the TRAPPC6B gene were recently found to be associated in three consanguineous families, with microcephaly, epilepsy, and brain malformations. Here, we report on a 3.5-year-old...
J Pediatr Genet - issue: 4 - volume: 8 - pages: 252-256.

Osteoblast differentiation is a key process for bone homeostasis and repair. Multiple signalling pathways have been associated with osteoblast differentiation, yet much remains unknown on how this...
J Cell Sci - issue: 132 - volume: 22 - pages: jcs231993.

Preservation and development of life depend on the adequate segregation of sister chromatids during mitosis and meiosis. This process is ensured by the cohesin multi-subunit complex. Mutations in this...
Cell Cycle - issue: 21 - volume: 18 - pages: 2828-2848.

Preservation and development of life depend on the adequate segregation of sister chromatids during mitosis and meiosis. This process is ensured by the cohesin multi-subunit complex. Mutations in this...
- issue: 21 - volume: 18 - pages: 2828-2848.

Background Prostate cancer is a major public health issue, mainly because patients relapse after androgen deprivation therapy. Proteomic strategies, aiming to reflect the functional activity of cells,...
PLoS ONE - issue: 11 - volume: 14 - pages: 25.

- issue: 2 - volume: 35 - pages: 55-59.

- issue: 5 - volume: 181 - pages: 461-472.

- issue: 5 - volume: 181 - pages: R199-R209.