Search filters

List of works by Pierre-Simon Jouk

Cerebral palsy and intrauterine growth in single births: European collaborative study ⬇️

scientific article published on October 4, 2003

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy ⬇️

scientific article published on 04 August 2011

Cytomegalovirus seroprevalence in French pregnant women: parity and place of birth as major predictive factors

scientific article published on February 1, 1998

Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population

scientific article

Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction

scientific article published on 17 October 2018

Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.

scientific article

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.

scientific article

Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies

scientific article published on 06 November 2015

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.

scientific article published on December 2016

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.

scientific article published on 15 February 2018

Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella

scientific article

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

scientific article published on 7 March 2017

Population screening for aneuploidy using maternal age and ultrasound ⬇️

scientific article published on 01 July 1998

Postnatal myocardium remodelling generates inhomogeneity in the architecture of the ventricular mass

scientific article published on 28 November 2017

Tetragametic chimerism: Case report ⬇️

scientific article published on 07 August 2010

Paulina is supported by:

About Paulina

Help