Found: 18
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X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 3, doi. 10.1186/1750-1172-9-49
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- Publication type:
- Article
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
- Published in:
- 2014
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- Publication type:
- journal article
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
- Published in:
- Brain: A Journal of Neurology, 2017, v. 140, n. 5, p. 1267, doi. 10.1093/brain/awx040
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- Publication type:
- Article
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
- Published in:
- 2017
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- Publication type:
- journal article
Alzheimer disease PS-1 exon 9 deletion defined.
- Published in:
- Nature Medicine, 1999, v. 5, n. 10, p. 1090, doi. 10.1038/13383
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- Publication type:
- Article
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
- Published in:
- Nature Genetics, 2005, v. 37, n. 12, p. 1309, doi. 10.1038/ng1677
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- Publication type:
- Article
Myopathy is a prominent feature in Marinesco-Sjögren syndrome.
- Published in:
- Journal of Neurology, 2006, v. 253, n. 3, p. 301, doi. 10.1007/s00415-005-0983-9
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- Publication type:
- Article
18q- Syndrome: Brain MRI shows poor differentiation of gray and white matter on T2-weighted images.
- Published in:
- Journal of Magnetic Resonance Imaging, 2003, v. 18, n. 4, p. 414, doi. 10.1002/jmri.10383
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- Publication type:
- Article
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.
- Published in:
- Human Genetics, 2002, v. 111, n. 4/5, p. 421, doi. 10.1007/s00439-002-0803-6
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- Publication type:
- Article
Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 368, doi. 10.1038/sj.ejhg.5200300
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- Publication type:
- Article
A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 ( LIS1) gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 875, doi. 10.1002/ajmg.a.33944
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- Publication type:
- Article
Variants in CUL4B are Associated with Cerebral Malformations.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 106, doi. 10.1002/humu.22718
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- Publication type:
- Article
Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-β concentrations.
- Published in:
- Annals of Neurology, 2000, v. 48, n. 5, p. 806, doi. 10.1002/1531-8249(200011)48:5<806::AID-ANA18>3.0.CO;2-F
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- Publication type:
- Article
Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.
- Published in:
- Neurogenetics, 2013, v. 14, n. 2, p. 123, doi. 10.1007/s10048-013-0358-9
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- Publication type:
- Article
Low density lipoprotein receptor-related protein 5 ( LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia.
- Published in:
- Clinical Endocrinology, 2010, v. 72, n. 4, p. 481, doi. 10.1111/j.1365-2265.2009.03680.x
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- Publication type:
- Article
A Transcript Map of the Newly Defined 165 kb Wolf-Hirschhorn Syndrome Critical Region.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 2, p. 317, doi. 10.1093/hmg/6.2.317
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- Publication type:
- Article
Distal trisomy 14q syndrome; a case report.
- Published in:
- Clinical Genetics, 1984, v. 26, n. 3, p. 231, doi. 10.1111/j.1399-0004.1984.tb04373.x
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- Publication type:
- Article
Scoliosis and retinal changes in a G syndrome carrier.
- Published in:
- Clinical Genetics, 1984, v. 26, n. 3, p. 274, doi. 10.1111/j.1399-0004.1984.tb04393.x
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- Publication type:
- Article