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A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study.
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- Journal of Personalized Medicine, 2020, v. 10, n. 4, p. 281, doi. 10.3390/jpm10040281
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- Article
KCNQ2-Associated Neonatal Epilepsy: Phenotype Might Correlate With Genotype.
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- Journal of Child Neurology, 2017, v. 32, n. 8, p. 704, doi. 10.1177/0883073817701873
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- Publication type:
- Article
Prognostic Factors for Outcome in Pediatric Probable Lesional Frontal Lobe Epilepsy With an Unknown Cause (Cryptogenic).
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- Journal of Child Neurology, 2014, v. 29, n. 12, p. 1660, doi. 10.1177/0883073813511855
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- Article
Novel Mutations in the TMPRSS3 Gene May Contribute to Taiwanese Patients with Nonsyndromic Hearing Loss.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 7, p. 2382, doi. 10.3390/ijms21072382
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- Article
Mechanism of Two Novel Human GJC3 Missense Mutations in Causing Non-Syndromic Hearing Loss.
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- Cell Biochemistry & Biophysics, 2013, v. 66, n. 2, p. 277, doi. 10.1007/s12013-012-9481-8
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- Publication type:
- Article
Human Connexin30.2/31.3 (GJC3) does not Form Functional Gap Junction Channels but Causes Enhanced ATP Release in HeLa Cells.
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- Cell Biochemistry & Biophysics, 2011, v. 61, n. 1, p. 189, doi. 10.1007/s12013-011-9188-2
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- Article
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.
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- 2007
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- Publication type:
- journal article
Identification of Novel Mutations in the KCNQ4 Gene of Patients with Nonsyndromic Deafness from Taiwan.
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- Audiology & Neurotology, 2007, v. 12, n. 1, p. 20, doi. 10.1159/000096154
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- Publication type:
- Article
Characterization of a human tumorigenic, poorly differentiated trophoblast cell line.
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- 1994
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- Publication type:
- Letter
Identification of the spinocerebellar ataxia type 7 mutation in Taiwan: application of PCR-based Southern blot.
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- Journal of Neurology, 2000, v. 247, n. 8, p. 623, doi. 10.1007/s004150070131
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- Publication type:
- Article
Erratum to: Novel mutations in the connexin43 ( GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss.
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- 2010
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- Publication type:
- Correction Notice
Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in Taiwan: implications for low prevalence and founder mutations of Taiwanese myotonic dystrophy type 1.
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- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 638, doi. 10.1038/sj.ejhg.5200684
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- Publication type:
- Article
Incidence of JC viruria is higher than that of BK viruria in Taiwan.
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- Journal of Medical Virology, 1997, v. 52, n. 3, p. 253, doi. 10.1002/(SICI)1096-9071(199707)52:3<253::AID-JMV3>3.0.CO;2-1
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- Publication type:
- Article
Protein N-Arginine Methylation in Subcellular Fractions of Lymphoblastoid Cells1.
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- Journal of Biochemistry, 2000, v. 128, n. 3, p. 493, doi. 10.1093/oxfordjournals.jbchem.a022779
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- Publication type:
- Article
Cyclopia with Trisomy 13.
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- Australian & New Zealand Journal of Obstetrics & Gynaecology, 1987, v. 27, n. 3, p. 251, doi. 10.1111/j.1479-828X.1987.tb01001.x
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- Publication type:
- Article
Increased (CTG/CAG)(n) lengths in myotonic dystrophy type 1 and Machado-Joseph disease genes in idiopathic azoospermia patients.
- Published in:
- 2002
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- Publication type:
- journal article
KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.816
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- Publication type:
- Article
Heteromeric Kv7.2 current changes caused by loss-of-function of KCNQ2 mutations are correlated with long-term neurodevelopmental outcomes.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-70212-w
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- Publication type:
- Article
The Functional Role of CONNEXIN 26 Mutation in Nonsyndromic Hearing Loss, Demonstrated by Zebrafish Connexin 30.3 Homologue Model.
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- Cells (2073-4409), 2020, v. 9, n. 5, p. 1291, doi. 10.3390/cells9051291
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- Publication type:
- Article
Response to Vincent and Gurling.
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- Human Mutation, 1998, v. 12, n. 6, p. 432, doi. 10.1002/(SICI)1098-1004(1998)12:6<432::AID-HUMU11>3.0.CO;2-S
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- Publication type:
- Article
Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndrome.
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- Human Mutation, 1997, v. 10, n. 5, p. 393, doi. 10.1002/(SICI)1098-1004(1997)10:5<393::AID-HUMU10>3.0.CO;2-V
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- Publication type:
- Article