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27 results
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Angelman syndrome without detectable chromosome 15q11-13 anomaly: clinical study of familial and isolated cases.
Laan LA, Halley DJ, den Boer AT, Hennekam RC, Renier WO, Brouwer OF. Laan LA, et al. Am J Med Genet. 1998 Mar 19;76(3):262-8. Am J Med Genet. 1998. PMID: 9508247 Review.
L-Arabinosuria: a new defect in human pentose metabolism.
Onkenhout W, Groener JE, Verhoeven NM, Yin C, Laan LA. Onkenhout W, et al. Among authors: laan la. Mol Genet Metab. 2002 Sep-Oct;77(1-2):80-5. doi: 10.1016/s1096-7192(02)00125-7. Mol Genet Metab. 2002. PMID: 12359133
A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.
Hoffer MJ, Hilhorst-Hofstee Y, Knijnenburg J, Hansson KB, Engelberts AC, Laan LA, Bakker E, Rosenberg C. Hoffer MJ, et al. Among authors: laan la. Eur J Med Genet. 2007 Mar-Apr;50(2):149-54. doi: 10.1016/j.ejmg.2006.11.004. Epub 2006 Dec 8. Eur J Med Genet. 2007. PMID: 17223398
Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2.
Kors EE, Vanmolkot KR, Haan J, Kheradmand Kia S, Stroink H, Laan LA, Gill DS, Pascual J, van den Maagdenberg AM, Frants RR, Ferrari MD. Kors EE, et al. Among authors: laan la. Neuropediatrics. 2004 Oct;35(5):293-6. doi: 10.1055/s-2004-821082. Neuropediatrics. 2004. PMID: 15534763
Alternating hemiplegia of childhood: no mutations in the glutamate transporter EAAT1.
de Vries B, Haan J, Stam AH, Vanmolkot KR, Stroink H, Laan LA, Gill DS, Pascual J, Frants RR, van den Maagdenberg AM, Ferrari MD. de Vries B, et al. Among authors: laan la. Neuropediatrics. 2006 Oct;37(5):302-4. doi: 10.1055/s-2006-924609. Neuropediatrics. 2006. PMID: 17236110
The diagnostic value of the EEG in Angelman and Rett syndrome at a young age.
Laan LA, Brouwer OF, Begeer CH, Zwinderman AH, van Dijk JG. Laan LA, et al. Electroencephalogr Clin Neurophysiol. 1998 May;106(5):404-8. doi: 10.1016/s0013-4694(98)00007-8. Electroencephalogr Clin Neurophysiol. 1998. PMID: 9680152
Angelman syndrome in adulthood.
Laan LA, den Boer AT, Hennekam RC, Renier WO, Brouwer OF. Laan LA, et al. Am J Med Genet. 1996 Dec 18;66(3):356-60. doi: 10.1002/(SICI)1096-8628(19961218)66:3<356::AID-AJMG21>3.0.CO;2-K. Am J Med Genet. 1996. PMID: 9072912
Evolution of epilepsy and EEG findings in Angelman syndrome.
Laan LA, Renier WO, Arts WF, Buntinx IM, vd Burgt IJ, Stroink H, Beuten J, Zwinderman KH, van Dijk JG, Brouwer OF. Laan LA, et al. Epilepsia. 1997 Feb;38(2):195-9. doi: 10.1111/j.1528-1157.1997.tb01097.x. Epilepsia. 1997. PMID: 9048672
Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters.
Hendriks YM, Laan LA, Vielvoye GJ, van Haeringen A. Hendriks YM, et al. Among authors: laan la. Am J Med Genet. 1999 Sep 10;86(2):183-6. Am J Med Genet. 1999. PMID: 10449658
Angelman syndrome: a review of clinical and genetic aspects.
Laan LA, v Haeringen A, Brouwer OF. Laan LA, et al. Clin Neurol Neurosurg. 1999 Sep;101(3):161-70. doi: 10.1016/s0303-8467(99)00030-x. Clin Neurol Neurosurg. 1999. PMID: 10536901 Review.
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