Lionel Van Maldergem

6PUBLICATIONS
51CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)Anthropological geneticsNeurology and neuromuscular diseases
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Journal

Publications (6)

|May 06, 2020
The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus.

Juliette Piard, Matthieu Béreau, Wenshu XiangWei

|Jul 25, 2019
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.

Ken McElreavey, Anne Jorgensen, Caroline Eozenou

|Jun 22, 2018
IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.

E Brischoux-Boucher, A Trimouille, G Baujat

|Jun 15, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Katrina Tatton-Brown, Anna Zachariou, Chey Loveday

|May 22, 2018
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.

Lyse Ruaud, Gillian I Rice, Christelle Cabrol

|Feb 18, 2018
Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up.

Tanguy Demaret, Sharat Varma, Xavier Stephenne

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Frequent Collaborators

2 joint publications

Juliette Piard

1 joint publications

E Brischoux-Boucher

1 joint publications

A Trimouille

1 joint publications

G Baujat