Lionel Van Maldergem (Lionel Val Maldergem, L Van Maldergem)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2018-2020
Publications (10 Years): 6

Top Venues

Wellcome open research

Human mutation

Movement disorders : official journal of the Movement Disorder Society

Genetics in medicine : official journal of the American College of Medical Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Juliette Piard, Matthieu Bereau, Wenshu XiangWei, Thomas Wirth, Daniel Amsallem, Lauren Buisson, Philippe Richard, Na-Na Liu, Yuchen Xu, Scott J Myers, Stephen F Traynelis, Jameleddine Chelly, Mathieu Anheim, Martine Raynaud, Lionel Van Maldergem, Hongjie Yuan
The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus. Movement disorders : official journal of the Movement Disorder Society 35 (7) (2020)
Kenneth McElreavey, Anne Jørgensen, Caroline Eozenou, Tiphanie Merel, Joelle Bignon-Topalovic, Daisylyn Senna Tan, Denis Houzelstein, Federica Buonocore, Nick Warr, Raissa G G Kay, Matthieu Peycelon, Jean-Pierre Siffroi, Inas Mazen, John C Achermann, Yuliya Shcherbak, Juliane Leger, Agnes Sallai, Jean-Claude Carel, Laetitia Martinerie, Romain Le Ru, Gerard S Conway, Brigitte Mignot, Lionel Van Maldergem, Rita Bertalan, Evgenia Globa, Raja Brauner, Ralf Jauch, Serge Nef, Andy Greenfield, Anu Bashamboo
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 22 (1) (2019)
Tanguy Demaret, Sharat Varma, Xavier Stephenne, Françoise Smets, Isabelle Scheers, Ronald J A Wanders, Lionel Van Maldergem, Raymond Reding, Etienne M Sokal
Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up. Pediatric transplantation 22 (3) (2018)
Lyse Ruaud, Gillian I Rice, Christelle Cabrol, Juliette Piard, Mathieu Paul Rodero, Lien van Eyk, Elise Boucher-Brischoux, Alain Maertens de Noordhout, Ricardo Maré, Emmanuel Scalais, Fernand Pauly, François-Guillaume Debray, William B Dobyns, Carolina Uggenti, Ji Woo Park, Sun Hur, John H Livingston, Yanick J Crow, Lionel Van Maldergem
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function. Human mutation 39 (8) (2018)
Elise Brischoux-Boucher, Aurélien Trimouille, Genevieve Baujat, Alice Goldenberg, E Schaefer, B Guichard, P Hannequin, G Paternoster, Sarah Baer, C Cabrol, E Weber, G Godfrin, Marion Lenoir, Didier Lacombe, Corinne Collet, Lionel Van Maldergem
IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences. Clinical genetics 94 (3-4) (2018)
Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Q C M Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I Karen Temple, Peter D Turnpenny, Lionel Van Maldergem, Vinod Varghese, Hermine E Veenstra-Knol, Naomi Yachelevich, Laura Yates, null null, null null, Nazneen Rahman
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. Wellcome open research 3 (2018)

Lionel Van Maldergem.css-eqlu8i{font-size:small;padding-left:4px;} (Lionel Val Maldergem, L Van Maldergem)

Publication Activity (10 Years)

Top Topics

Top Venues

Lionel Van Maldergem (Lionel Val Maldergem, L Van Maldergem)