Publications and ressources

Neuroinflammatory disorders and mastocytosis: A possible association?

Olivier Hermine

Source : J Allergy Clin Immunol Pract

Pmid : 31077881

New Publication

Jean-Laurent CASANOVA , Laurent Abel

Source :

Pmid : 34822298

Early mandibular morphological differences in patients with FGFR2 and FGFR3-related syndromic craniosynostoses: A 3D comparative study

Source : Bone 2020

Pmid : 32822871

New Publication

Source :

Pmid : 34180810

New Publication

Source :

Pmid : 34180810

Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice

Source : Nature Communications

Pmid : 35672312

Theobroma cacao improves bone growth by modulating defective ciliogenesis in a mouse model of achondroplasia.

Source : Bone Res

Pmid : 35078974

New Publication

Source :

Pmid : 32286311

New Publication

Source :

Pmid : 33129895

16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing

Source : Eur J Hum Genet
. 2022 Jun;30(6):712-720. doi: 10.1038/s41431-022-01094-x.

Pmid :

Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.

Source : Brain. 2022

Pmid : 35325049

New Publication

Source :

Pmid : 29127204

New Publication

emmanuel lefevre, Benjamin Couderc, Benjamin Couderc

Source :

Pmid : 32551464

New Publication

Jean-Laurent CASANOVA

Source :

Pmid : 34822298

An Fgfr3-activating mutation in immature murine osteoblasts affects the appendicular and craniofacial skeleton.

Source : Dis Model Mech. 2021

Pmid : 33737326