Found: 7
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CDKL5 alterations lead to early epileptic encephalopathy in both genders.
- Published in:
- Epilepsia (Series 4), 2011, v. 52, n. 10, p. 1835, doi. 10.1111/j.1528-1167.2011.03174.x
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- Article
Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 9, p. 580, doi. 10.1038/jhg.2012.71
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- Article
Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.
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- Journal of Human Genetics, 2011, v. 56, n. 8, p. 561, doi. 10.1038/jhg.2011.58
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- Article
Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1779, doi. 10.1002/ajmg.a.35975
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- Article
Interstitial Duplication of 2q32.1-q33.3 in a Patient With Epilepsy, Developmental Delay, and Autistic Behavior.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1078, doi. 10.1002/ajmg.a.35679
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- Article
An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1771, doi. 10.1002/ajmg.a.35431
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- Article
Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1.
- Published in:
- Congenital Anomalies, 2013, v. 53, n. 4, p. 155, doi. 10.1111/j.1741-4520.2012.00384.x
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- Article