Marc Abramowicz

7PUBLICATIONS
23CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Foetal development and medicineStructural properties of condensed matterMedical molecular engineering of nucleic acids and proteinsMedical infection agents (incl. prions)
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Publications (7)

|Nov 01, 2023
[Clinical utility of Genome Boards for patients with complex genetic diseases].

Eva B Hammar, Marc Abramowicz

|Jul 12, 2023
Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage.

Siv Fokstuen, Lina Quteineh, Valérie M Schwitzgebel

|Mar 01, 2023
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.

Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx

|Apr 30, 2022
The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review.

Judit Kumuthini, Brittany Zick, Angeliki Balasopoulou

|Aug 17, 2021
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.

Sarah Duerinckx, Julie Désir, Camille Perazzolo

|May 26, 2021
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.

Caterina Marconi, Laure Lemmens, Frédéric Masclaux

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Frequent Collaborators

2 joint publications

Sarah Duerinckx

2 joint publications

Sandrine Passemard

2 joint publications

Isabelle Pirson

1 joint publications

Yoann Vial