Found: 22
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Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
- Published in:
- 2016
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- Publication type:
- journal article
Neuronal intranuclear inclusion disease: Two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia.
- Published in:
- Movement Disorders, 2010, v. 25, n. 9, p. 1274, doi. 10.1002/mds.22876
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- Publication type:
- Article
Dopa-responsive parkinsonism phenotype of spinocerebellar ataxia type 2.
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- Movement Disorders, 2002, v. 17, n. 5, p. 1046, doi. 10.1002/mds.10243
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- Publication type:
- Article
Neurofibromatosis 2 with peripheral neuropathies: Electrophysiological, pathological and genetic studies of a Taiwanese family.
- Published in:
- Neuropathology, 2010, v. 30, n. 5, p. 515, doi. 10.1111/j.1440-1789.2009.01099.x
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- Publication type:
- Article
Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 11, p. 720, doi. 10.1038/jhg.2013.91
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- Publication type:
- Article
The LRRK2 Arg1628Pro variant is a risk factor for Parkinson’s disease in the Chinese population.
- Published in:
- Neurogenetics, 2008, v. 9, n. 4, p. 271, doi. 10.1007/s10048-008-0140-6
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- Publication type:
- Article
Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations.
- Published in:
- Genetic Epidemiology, 2008, v. 32, n. 6, p. 505, doi. 10.1002/gepi.20323
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- Publication type:
- Article
Fetal polymorphisms at the ABCB1-transporter gene locus are associated with susceptibility to non-syndromic oral cleft malformations.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1436, doi. 10.1038/ejhg.2013.25
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- Publication type:
- Article
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 3, p. 485, doi. 10.1002/ana.25973
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- Publication type:
- Article
The SNP rs560426 Within ABCA4-ARHGAP29 Locus and the Risk of Nonsyndromic Oral Clefts.
- Published in:
- Cleft Palate Craniofacial Journal, 2020, v. 57, n. 6, p. 671, doi. 10.1177/1055665619899764
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- Publication type:
- Article
Association Studies Between Regulatory Regions of IRF6 / TP63 Genes and Nonsyndromic Oral Clefts.
- Published in:
- Cleft Palate Craniofacial Journal, 2019, v. 56, n. 6, p. 778, doi. 10.1177/1055665618809244
- By:
- Publication type:
- Article
The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft Palate.
- Published in:
- Cleft Palate Craniofacial Journal, 2013, v. 50, n. 1, p. 96, doi. 10.1597/11-132
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- Publication type:
- Article
Association ssudy between candidate genes on transforming growth factor-β signaling pathway and the risk: of non-syndromic cleft lip with or without cleft palate in Chinese populations.
- Published in:
- Journal of Health Sciences of Peking University / Beijing Daxue Xuebao (Yixue Ban), 2015, v. 47, n. 3, p. 384, doi. 10.3969/j.issn.1671-167X.2015.03.004
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- Publication type:
- Article
Association study for gene polymorphism of folic acid/homocysteine metabolic pathway and nonsyndromic cleft lip with or without cleft palate in Chinese populations.
- Published in:
- Journal of Health Sciences of Peking University / Beijing Daxue Xuebao (Yixue Ban), 2013, v. 45, n. 3, p. 352, doi. 10.3969/j.issn.1671-167X.2013.03.004
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- Publication type:
- Article
Evidence of Gene−Environment Interaction for Two Genes on Chromosome 4 and Environmental Tobacco Smoke in Controlling the Risk of Nonsyndromic Cleft Palate.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0088088
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- Publication type:
- Article
Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.
- Published in:
- Journal of Biomedical Science, 2018, v. 25, n. 1, p. N.PAG, doi. 10.1186/s12929-018-0474-9
- By:
- Publication type:
- Article
Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 784, doi. 10.1002/ajmg.a.35257
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- Publication type:
- Article
A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts.
- Published in:
- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-37
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- Publication type:
- Article
X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts.
- Published in:
- European Journal of Oral Sciences, 2013, v. 121, n. 2, p. 63, doi. 10.1111/eos.12025
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- Publication type:
- Article
Examining Markers in 8q24 to Explain Differences in Evidence for Association With Cleft Lip With/Without Cleft Palate Between Asians and Europeans.
- Published in:
- Genetic Epidemiology, 2012, v. 36, n. 4, p. 392, doi. 10.1002/gepi.21633
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- Publication type:
- Article
Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate.
- Published in:
- Genetic Epidemiology, 2011, v. 35, n. 6, p. 469, doi. 10.1002/gepi.20595
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- Publication type:
- Article
Gene-gene interaction of single nucleotide polymorphisms in 16p13.3 may contribute to the risk of non-syndromic cleft lip with or without cleft palate in Chinese case-parent trios.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1489, doi. 10.1002/ajmg.a.38190
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- Publication type:
- Article