Found: 31
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High frequency hearing loss correlated with mutations in the GJB2 gene.
- Published in:
- Human Genetics, 2000, v. 106, n. 4, p. 399, doi. 10.1007/s004390000273
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- Publication type:
- Article
Prevalence and nature of connexin 26 mutations in children with non‐syndromic deafness.
- Published in:
- Medical Journal of Australia, 2001, v. 175, n. 4, p. 191, doi. 10.5694/j.1326-5377.2001.tb143093.x
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- Publication type:
- Article
Language and speech perception outcomes in hearing-impaired children with and without connexin 26 mutations.
- Published in:
- 2003
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- Publication type:
- journal article
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 6069, doi. 10.1093/hmg/ddu306
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- Publication type:
- Article
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 7, p. 1417, doi. 10.1093/hmg/dds558
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- Publication type:
- Article
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy.
- Published in:
- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 8, p. 821, doi. 10.1002/acn3.224
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- Publication type:
- Article
A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes.
- Published in:
- Nature Genetics, 2008, v. 40, n. 2, p. 249, doi. 10.1038/ng.2007.63
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- Publication type:
- Article
Cochlear Implants for DFNA17 Deafness.
- Published in:
- Laryngoscope, 2006, v. 116, n. 12, p. 2211, doi. 10.1097/01.mlg.0000242089.72880.f8
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- Publication type:
- Article
Survival of Partially Differentiated Mouse Embryonic Stem Cells in the Scala Media of the Guinea Pig Cochlea.
- Published in:
- JARO - Journal of the Association for Research in Otolaryngology, 2005, v. 6, n. 4, p. 341, doi. 10.1007/s10162-005-0012-9
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- Publication type:
- Article
In Silico Analyses of Mouse Inner-Ear Transcripts.
- Published in:
- JARO - Journal of the Association for Research in Otolaryngology, 2003, v. 4, n. 1, p. 24, doi. 10.1007/s10162-002-2058-2
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- Publication type:
- Article
Advances in Molecular and Cellular Therapies for Hearing Loss.
- Published in:
- Molecular Therapy, 2008, v. 16, n. 2, p. 224, doi. 10.1038/sj.mt.6300351
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- Publication type:
- Article
<i>Eeyore</i>: A Novel Mouse Model of Hereditary Deafness.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074243
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- Publication type:
- Article
Etiology and Audiological Outcomes at 3 Years for 364 Children in Australia.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0059624
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- Publication type:
- Article
Inner Ear Morphology Is Perturbed in Two Novel Mouse Models of Recessive Deafness.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0051284
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- Publication type:
- Article
A Mutation in Synaptojanin 2 Causes Progressive Hearing Loss in the ENU-Mutagenised Mouse Strain Mozart.
- Published in:
- PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0017607
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- Publication type:
- Article
Prevalence and nature of connexin 26 mutations in children with non‐syndromic deafness.
- Published in:
- Medical Journal of Australia, 2004, v. 181, n. 8, p. 437, doi. 10.5694/j.1326-5377.2004.tb06368.x
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- Publication type:
- Article
Towards reliable prenatal diagnosis of mtDNA point mutations: studies of nt8993 mutations in oocytes, fetal tissues, children and adults.
- Published in:
- Human Reproduction, 2000, v. 15, n. suppl_2, p. 246, doi. 10.1093/humrep/15.suppl_2.246
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- Publication type:
- Article
Atomic force microscopy imaging of DNA-cationic liposome complexes optimised for gene transfection into neuronal cells.
- Published in:
- Journal of Gene Medicine, 2001, v. 3, n. 1, p. 72, doi. 10.1002/1521-2254(200101/02)3:1<72::AID-JGM157>3.0.CO;2-M
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- Publication type:
- Article
A novel mutation (P316L) in a female with pyruvate dehydrogenase E1α deficiency.
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. 274, doi. 10.1002/humu.1380060317
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- Publication type:
- Article
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 10, p. 3140, doi. 10.1093/brain/awt233
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- Publication type:
- Article
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
- Published in:
- Journal of Molecular Medicine, 2002, v. 80, n. 2, p. 124, doi. 10.1007/s00109-001-0310-6
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- Publication type:
- Article
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 16, p. 4483, doi. 10.1093/hmg/ddv171
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- Publication type:
- Article
Pyruvate dehydrogenase deficiency: Molecular basis for intrafamilial heterogeneity.
- Published in:
- Annals of Neurology, 1994, v. 36, n. 1, p. 83, doi. 10.1002/ana.410360116
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- Publication type:
- Article
Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 2, p. e18, doi. 10.1111/epi.12519
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- Publication type:
- Article
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 12, p. e204, doi. 10.1111/epi.12007
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- Publication type:
- Article
Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 6, p. 981, doi. 10.1093/hmg/7.6.981
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- Publication type:
- Article
Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 12, p. 2173, doi. 10.1093/hmg/6.12.2173
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- Publication type:
- Article
Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1α subunit.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1021
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- Publication type:
- Article
A four-nucleotide insertion hotspot in the X chromosome located pyruvate dehydrogenase E1α gene (PDHA1).
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 4, p. 473
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- Publication type:
- Article
Things Mendel never dreamed of.
- Published in:
- 1993
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- Publication type:
- journal article
Elements of molecular genetics.
- Published in:
- 1993
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- Publication type:
- journal article