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Publisher : wiley-liss Subject : genetic testing Filter by : Subject
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Academic Journal

Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method.

  • Authors : Storm K; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Willocx S

Subjects: Connexins/Connexins/Connexins/*genetics ; Genetic Carrier Screening/Genetic Carrier Screening/Genetic Carrier Screening/*methods ; Genetic Testing/Genetic Testing/Genetic Testing/*methods

  • Source: Human mutation [Hum Mutat] 1999; Vol. 14 (3), pp. 263-6.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Print

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Academic Journal

Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).

  • Authors : Lin D; Laboratory of Molecular Otology, Epstein Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of California, San Francisco, California 94143-0526, USA.; Goldstein JA

Subjects: Connexins/Connexins/Connexins/*genetics ; Deafness/Deafness/Deafness/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*methods

  • Source: Human mutation [Hum Mutat] 2001; Vol. 18 (1), pp. 42-51.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium:

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Academic Journal

Trapped-oligonucleotide nucleotide incorporation (TONI) assay, a simple method for screening point mutations.

  • Authors : Prezant TR; Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center, Los Angeles, California.; Fischel-Ghodsian N

Subjects: Mutagenesis, Site-Directed* ; Point Mutation*; DNA, Mitochondrial/DNA, Mitochondrial/DNA, Mitochondrial/*genetics

  • Source: Human mutation [Hum Mutat] 1992; Vol. 1 (2), pp. 159-64.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Print

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Academic Journal

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Subjects: Genetic Testing/Genetic Testing/Genetic Testing/*methods ; Genome, Human/Genome, Human/Genome, Human/*genetics ; Hearing Loss/Hearing Loss/Hearing Loss/*genetics

  • Source: Human mutation [Hum Mutat] 2018 Nov; Vol. 39 (11), pp. 1593-1613.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium:

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  • 1-4 of  4 results for ""Deafness""