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List of works by Jonathan Lévy

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

scientific article

EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.

scientific article published on 6 March 2018

Failure of ossification of the occipital bone in mandibuloacral dysplasia type B

scientific article published on 13 July 2016

Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.

scientific article

INTU-related oral-facial-digital syndrome type VI: a confirmatory report

scientific article published on 16 February 2018

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements

scientific article published on 26 November 2014

LEF1 haploinsufficiency causes ectodermal dysplasia

scientific article published on 17 February 2020

NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder

scientific article published on 01 August 2018

Prenatal diagnosis of bilateral ectrodactyly and radial agenesis associated with trisomy 10 mosaicism

scientific article

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