Found: 8
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Noggin null allele mice exhibit a microform of holoprosencephaly.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 20, p. 4005, doi. 10.1093/hmg/ddr329
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- Publication type:
- Article
A high-density association screen of 155 ion transport genes for involvement with common migraine.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 21, p. 3318, doi. 10.1093/hmg/ddn227
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- Publication type:
- Article
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
- Published in:
- PLoS ONE, 2021, v. 16, n. 9, p. 1, doi. 10.1371/journal.pone.0255933
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- Publication type:
- Article
Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 2, p. 185, doi. 10.1038/sj.ejhg.5201723
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- Publication type:
- Article
Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 2, p. 208, doi. 10.1038/sj.ejhg.5201300
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- Publication type:
- Article
Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.
- Published in:
- 2005
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- Publication type:
- Correction notice
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.
- Published in:
- Nature Genetics, 2010, v. 42, n. 10, p. 869, doi. 10.1038/ng.652
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- Publication type:
- Article
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
- Published in:
- Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad222
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- Publication type:
- Article