Lionel Van Maldergem
Rambam Health Care Campus(IL)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Connective tissue disorders research, Genomics and Rare Diseases, Metabolism and Genetic Disorders
Most-Cited Works
- → Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13(2001)746 cited
- → Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance(2010)594 cited
- → GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study(2005)551 cited
- → Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes(2010)506 cited
- → Genome-Wide Scan for Autism Susceptibility Genes(1999)476 cited
- → Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome(1999)384 cited
- → Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome(2004)