Search filters

List of works by Bruno Francou

Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts

scientific article published on 16 September 2015

Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity.

scientific article published on 25 April 2018

Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients

scientific article published on 01 December 2020

LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2

scientific article published on 17 April 2019

Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships

scientific article published on 05 March 2010

Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations

scientific article

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development

scientific article

When to suspect transthyretin amyloidosis in cases of isolated vitreous opacities?

scientific article published on 05 June 2020

Paulina is supported by:

About Paulina

Help