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Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
- Published in:
- Human Genetics, 2005, v. 116, n. 4, p. 292, doi. 10.1007/s00439-004-1227-2
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- Article
Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians.
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- Human Genetics, 2003, v. 114, n. 1, p. 44, doi. 10.1007/s00439-003-1018-1
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- Article
The prevalence of connexin 26 (GJB2) mutations in the Chinese population.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 394, doi. 10.1007/s00439-002-0811-6
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- Article
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.
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- Human Genetics, 2002, v. 111, n. 1, p. 26, doi. 10.1007/s00439-002-0736-0
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- Article
Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians.
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- Human Genetics, 2001, v. 108, n. 5, p. 385, doi. 10.1007/s004390100507
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- Article
Maternal environment defines blood pressure and its response to troleandomycin in spontaneously hypertensive rats<sup>*</sup>.
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- American Journal of Hypertension, 1995, v. 8, n. 3, p. 321, doi. 10.1016/0895-7061(94)00198-K
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- Article
SEROEPIDEMIOLOGY OF CYTOMEGALOVIRUS AND HERPES SIMPLEX VIRUS IN TWINS AND THEIR FAMILIES1.
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- American Journal of Epidemiology, 1988, v. 128, n. 2, p. 268, doi. 10.1093/oxfordjournals.aje.a114967
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- Article
THE EFFECT OF PERINATAL SCREENING IN NORWAY ON THE MAGNITUDE OF NONINHERITED RISK FACTORS FOR CONGENITAL DISLOCATION OF THE HIP.
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- American Journal of Epidemiology, 1987, v. 125, n. 2, p. 271, doi. 10.1093/oxfordjournals.aje.a114526
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- Article
Early onset periodontitis: A comparison and evaluation of two proposed modes of inheritance.
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- Genetic Epidemiology, 1987, v. 4, n. 1, p. 13, doi. 10.1002/gepi.1370040103
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- Article
The Cincinnati lipid research clinic family study: Analysis of commingling and family resemblance for fasting blood glucose.
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- Genetic Epidemiology, 1984, v. 1, n. 4, p. 341, doi. 10.1002/gepi.1370010406
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- Article
Interpretation of LOD scores with a set of marker loci.
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- Genetic Epidemiology, 1984, v. 1, n. 4, p. 357, doi. 10.1002/gepi.1370010407
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- Article
Fine Mapping of the Human Biotinidase Gene and Haplotype Analysis of Five Common Mutations.
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- Human Heredity, 2000, v. 50, n. 2, p. 102, doi. 10.1159/000022897
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- Article
Analysis of Locus Heterogeneity in Waardenburg Syndrome Types 1 and 2 Using Highly Informative Microsatellite Markers.
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- Human Heredity, 1995, v. 45, n. 5, p. 243, doi. 10.1159/000154307
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- Article
ANALYSIS OF THE COVARIANCE STRUCTURE OF DIGITAL RIDGE COUNTS IN THE OFFSPRING OF MONOZYGOTIC TWINS.
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- Genetics, 1983, v. 103, n. 3, p. 495
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- Article
GENETIC MODELS FOR THE ANALYSIS OF DATA FROM THE FAMILIES OF IDENTICAL TWINS.
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- Genetics, 1976, v. 83, n. 4, p. 811
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- Article
GJB2 Mutations in Mongolia: Complex Alleles, Low Frequency, and Reduced Fitness of the Deaf.
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- Annals of Human Genetics, 2010, v. 74, n. 2, p. 155, doi. 10.1111/j.1469-1809.2010.00564.x
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- Article
Fitness Among Individuals with Early Childhood Deafness: Studies in Alumni Families from Gallaudet University.
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- Annals of Human Genetics, 2010, v. 74, n. 1, p. 27, doi. 10.1111/j.1469-1809.2009.00553.x
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- Article
The Clinical and Audiologic Features of Hearing Loss Due to Mitochondrial Mutations.
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- Otolaryngology-Head & Neck Surgery, 2013, v. 148, n. 6, p. 1017, doi. 10.1177/0194599813482705
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- Article
Traits of Mitochondrial Deafness in a National Repository.
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- Otolaryngology-Head & Neck Surgery, 2012, v. 145, n. 2, p. P238, doi. 10.1177/0194599812451426a360
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- Article
Sampling Variances in Twin and Sibling Studies of Man.
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- Human Heredity, 1974, v. 24, n. 4, p. 363, doi. 10.1159/000152672
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- Article
Letters.
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- 2001
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- Publication type:
- Letter
Anencephaly and Spina Bifida: a Possible Example of Cytoplasmic Inheritance in Man.
- Published in:
- Nature, 1969, v. 224, n. 5217, p. 373, doi. 10.1038/224373a0
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- Article
Vestibular dysfunction in DFNB1 deafness.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 993, doi. 10.1002/ajmg.a.33828
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- Article
Hypo-Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?
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- Human Mutation, 2009, v. 30, n. 4, p. 599, doi. 10.1002/humu.20884
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- Article
Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disorders.
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- Clinical Genetics, 1996, v. 49, n. 2, p. 57, doi. 10.1111/j.1399-0004.1996.tb04327.x
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- Article
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss.
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- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1155, doi. 10.1093/hmg/ddg127
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- Article
Mutations in GJA1(connexin43) are associated with non-syndromic autosomal recessive deafness.
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- Human Molecular Genetics, 2001, v. 10, n. 25, p. 2945, doi. 10.1093/hmg/10.25.2945
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- Article
Phenotypic Variation in Waardenburg Syndrome: Mutational Heterogeneity, Modifier Genes or Polygenic Background?
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- Human Molecular Genetics, 1996, v. 5, n. 4, p. 497, doi. 10.1093/hmg/5.4.497
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- Article
Detection and localization of an extra HLA locus in a karyotypically normal male by chromosomal in situ hybridization.
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- Clinical Genetics, 1986, v. 29, n. 1, p. 62, doi. 10.1111/j.1399-0004.1986.tb00772.x
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- Article
Genetics of the low density lipoprotein receptor:.
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- Clinical Genetics, 1981, v. 20, n. 2, p. 104, doi. 10.1111/j.1399-0004.1981.tb01815.x
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- Article
Linkage analysis using heterozygote detection in phenylketonuria.
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- Clinical Genetics, 1979, v. 16, n. 4, p. 217, doi. 10.1111/j.1399-0004.1979.tb00994.x
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- Article
The human X-chromosome and the levels of serum immunoglobulin M.
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- Clinical Genetics, 1979, v. 15, n. 3, p. 221, doi. 10.1111/j.1399-0004.1979.tb00971.x
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- Article
Familial branchio-oto-renal dysplasia: A new addition to the branchial arch syndromes.
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- Clinical Genetics, 1976, v. 9, n. 1, p. 25, doi. 10.1111/j.1399-0004.1976.tb01546.x
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- Article
Vitiligo and dysgammaglobulinemia. A case report and family study.
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- Clinical Genetics, 1975, v. 7, n. 1, p. 62, doi. 10.1111/j.1399-0004.1975.tb00363.x
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- Article