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De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.
van der Maarel SM, Deidda G, Lemmers RJ, van Overveld PG, van der Wielen M, Hewitt JE, Sandkuijl L, Bakker B, van Ommen GJ, Padberg GW, Frants RR. van der Maarel SM, et al. Am J Hum Genet. 2000 Jan;66(1):26-35. doi: 10.1086/302730. Am J Hum Genet. 2000. PMID: 10631134 Free PMC article.
Clinical and genetic heterogeneity in benign hereditary chorea.
Breedveld GJ, Percy AK, MacDonald ME, de Vries BB, Yapijakis C, Dure LS, Ippel EF, Sandkuijl LA, Heutink P, Arts WF. Breedveld GJ, et al. Among authors: sandkuijl la. Neurology. 2002 Aug 27;59(4):579-84. doi: 10.1212/wnl.59.4.579. Neurology. 2002. PMID: 12196653
Molecular genetic reevaluation of the Dutch hyperekplexia family.
Tijssen MA, Shiang R, van Deutekom J, Boerman RH, Wasmuth JJ, Sandkuijl LA, Frants RR, Padberg GW. Tijssen MA, et al. Among authors: sandkuijl la. Arch Neurol. 1995 Jun;52(6):578-82. doi: 10.1001/archneur.1995.00540300052012. Arch Neurol. 1995. PMID: 7763205
116 results