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Subject : genetic testing Publisher : mary ann liebert, inc
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Academic Journal

Screening Consanguineous Families for Hearing Loss Using the MiamiOtoGenes Panel.

  • Authors : Kannan-Sundhari A; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, USA.; Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.

Subjects: Genetic Testing/Genetic Testing/Genetic Testing/*methods ; Hearing Loss/Hearing Loss/Hearing Loss/*diagnosis; Adult

  • Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2020 Oct; Vol. 24 (10), pp. 674-680. Date of Electronic Publication: 2020 Sep Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print-Electronic

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Academic Journal

A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach.

  • Authors : Tang W; Department of Otolaryngology, Emory University School of Medicine, Atlanta, Georgia 30322, USA.; Qian D

Subjects: Gene Targeting*; Deafness/Deafness/Deafness/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*economics

  • Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2012 Jun; Vol. 16 (6), pp. 536-42. Date of Electronic Publication: 2012 Apr 05.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print-Electronic

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Academic Journal

Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay.

  • Authors : Abe S; Division of Advanced Technology and Development, BML, Inc., Kawagoe-shi, Saitama 350-1101, Japan.; Yamaguchi T

Subjects: DNA Mutational Analysis/DNA Mutational Analysis/DNA Mutational Analysis/*methods ; Deafness/Deafness/Deafness/*diagnosis ; Genetic Testing/Genetic Testing/Genetic Testing/*methods

  • Source: Genetic testing [Genet Test] 2007 Fall; Vol. 11 (3), pp. 333-40.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 9802546 Publication Model: Print Cited Medium:

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Academic Journal

Screening of the general Polish population for deafness-associated mutations in mitochondrial 12S rRNA and tRNA Ser(UCN) genes.

  • Authors : Rydzanicz M; Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland. ; Wróbel M

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

  • Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2009 Apr; Vol. 13 (2), pp. 167-72.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print Cited

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Academic Journal

A simple method of screening for the common connexin-26 gene 35delG mutation in nonsyndromic neurosensory autosomal recessive deafness.

  • Authors : Fernández-Burriel M; Laboratorio de genética molecular, Servicio de Análisis Clínicos, Hospital Materno-Infantil, 35016-Las Palmas de Gran Canaria, Canary Islands, Spain. ; Rodríguez-Quiñones F

Subjects: Sequence Deletion*; Connexins/Connexins/Connexins/*genetics ; Deafness/Deafness/Deafness/*genetics

  • Source: Genetic testing [Genet Test] 2003 Summer; Vol. 7 (2), pp. 147-9.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 9802546 Publication Model: Print Cited Medium:

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Academic Journal

Easy, rapid, and cost-effective methods for identifying carriers of recurrent GJB2 mutations causing nonsyndromic hearing impairment in the Greek population.

  • Authors : Kokotas H; Department of Genetics, Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece. ; Grigoriadou M

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

  • Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2010 Apr; Vol. 14 (2), pp. 189-92.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print Cited

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Academic Journal

Concurrent Genetic and Standard Screening for Hearing Impairment in 9317 Southern Chinese Newborns.

  • Authors : Peng Q; 1 Department of Neonates, Children's Hospital of Dongguan , Dongguan, China .; 2 Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics , Dongguan, China .

Subjects: Genetic Predisposition to Disease*; Connexins/Connexins/Connexins/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*standards

  • Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2016 Oct; Vol. 20 (10), pp. 603-608. Date of Electronic Publication: 2016 Aug Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print-Electronic

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Academic Journal

Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes.

  • Authors : Nishio SY; 1 Department of Otorhinolaryngology, Shinshu University School of Medicine , Matsumoto, Japan .; Hayashi Y

Subjects: Gene Library* ; High-Throughput Nucleotide Sequencing* ; Mutation*

  • Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2015 Apr; Vol. 19 (4), pp. 209-17. Date of Electronic Publication: 2015 Jan 14.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print-Electronic

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Academic Journal

Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness.

Subjects: Connexins/Connexins/Connexins/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*methods ; Hearing Loss, Sensorineural/Hearing Loss, Sensorineural/Hearing Loss, Sensorineural/*genetics

  • Source: Genetic testing [Genet Test] 2001 Winter; Vol. 5 (4), pp. 339-43.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 9802546 Publication Model: Print Cited Medium:

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Academic Journal

A new, easy, and rapid high-throughput detection method for the common GJB2 (CX26), 35delG mutation.

  • Authors : Van Eyken E; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Van Camp G

Subjects: Connexins/Connexins/Connexins/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*methods; Connexin 26

  • Source: Genetic testing [Genet Test] 2007 Fall; Vol. 11 (3), pp. 231-4.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 9802546 Publication Model: Print Cited Medium:

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  • 1-10 of  10 results for ""Deafness""