Search filters

List of works by Sandra Janssens

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence

scientific article published on 13 December 2018

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 01 August 2019

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

scientific article published on 6 May 2016

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018

Implementation of Fetal Clinical Exome Sequencing: Comparing Prospective and Retrospective Cohorts

scientific article published in 2022

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts

scientific article published on 30 November 2021

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

scientific article published on 15 February 2014

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

scientific article published on 12 February 2018

Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?

scientific article published in 2022

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

scientific article published on 21 May 2020

Recurrent duplications of 17q12 associated with variable phenotypes.

scientific article published on 30 September 2015

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

article

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

scientific article published on 08 June 2016

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

Paulina is supported by:

About Paulina

Help