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List of works by Yves Sznajer

"Serpentine-like syndrome"-A very rare multiple malformation syndrome characterised by brachioesophagus and vertebral anomalies.

scientific article

Autosomal recessive primary microcephaly due to ASPM mutations: An update

scientific article

Childhood hearing loss is a key feature of CAPOS syndrome: A case report

scientific article published on 22 November 2017

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

scientific article published on 15 February 2014

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

scientific article (publication date: July 2010)

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

scientific article published on 06 February 2017

PEDIA: prioritization of exome data by image analysis

scientific article published on 05 June 2019

Prenatally detected copy number variants in a national cohort: a postnatal follow-up study

scientific article published on 21 May 2020

The BElgian PREnatal MicroArray (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

article

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