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Publisher : nature publishing group Subject : genetic testing Subject : recessive genes
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Academic Journal

Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach.

  • Authors : Wang J; Department of Obstetrics and Gynecology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230001, Anhui, China.; Xiang J

Subjects: Deafness/Deafness/Deafness/*diagnosis ; Deafness/Deafness/Deafness/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*methodsNonsyndromic Deafness

  • Source: Scientific reports [Sci Rep] 2021 Feb 17; Vol. 11 (1), pp. 4036. Date of Electronic Publication: 2021 Feb 17.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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Periodical

Genetics: deaf by design.

Subjects: Abortion, Eugenic/Abortion, Eugenic/Abortion, Eugenic/*ethics ; Deafness/Deafness/Deafness/*diagnosis ; Deafness/Deafness/Deafness/*genetics

  • Source: Nature [Nature] 2004 Oct 21; Vol. 431 (7011), pp. 894-6.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium:

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Academic Journal

Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.

Subjects: Genetic Testing/Genetic Testing/Genetic Testing/*standards ; Hearing Loss/Hearing Loss/Hearing Loss/*genetics ; Neonatal Screening/Neonatal Screening/Neonatal Screening/*standards

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2020 May; Vol. 28 (5), pp. 587-596. Date of Electronic Publication: 2019 Dec 12.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.

  • Authors : Zazo Seco C; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands.; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

Subjects: Exome*; Genetic Testing/Genetic Testing/Genetic Testing/*statistics & numerical data ; Hearing Loss/Hearing Loss/Hearing Loss/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2017 Feb; Vol. 25 (3), pp. 308-314. Date of Electronic Publication: 2016 Dec 21.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Report

Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation.

  • Authors : Vogel GF; Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.; Maurer E

Subjects: ATP Binding Cassette Transporter, Subfamily B, Member 11/ATP Binding Cassette Transporter, Subfamily B, Member 11/ATP Binding Cassette Transporter, Subfamily B, Member 11/*genetics ; Cholangitis, Sclerosing/Cholangitis, Sclerosing/Cholangitis, Sclerosing/*genetics ; Cholestasis/Cholestasis/Cholestasis/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Jun; Vol. 28 (6), pp. 840-844. Date of Electronic Publication: 2020 Mar 20.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR.

  • Authors : Czibere L; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany. .; Burggraf S

Subjects: Genetic Testing/Genetic Testing/Genetic Testing/*methods ; Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/*genetics ; Neonatal Screening/Neonatal Screening/Neonatal Screening/*methods

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Jan; Vol. 28 (1), pp. 23-30. Date of Electronic Publication: 2019 Jul 30.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.

  • Authors : Yuan Y; Departments of Otolaryngology Head&Neck Surgery, Chinese PLA General hospital, 28#Fuxing Road, 100853, Beijing, China.; Departments of Otolaryngology Head&Neck Surgery, Emory University School of Medicine, 615 Michael Street, Atlanta, GA, 30322, USA.

Subjects: Mutation* ; Practice Guidelines as Topic*; Genetic Testing/Genetic Testing/Genetic Testing/*standards

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Feb; Vol. 28 (2), pp. 231-243. Date of Electronic Publication: 2019 Sep 20.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

  • Authors : Bonnet C; INSERM UMRS 1120, Institut de la Vision, Paris, France.; UPMC-Sorbonnes Universités Paris VI, Paris, France.

Subjects: Mutation*; Genetic Testing/Genetic Testing/Genetic Testing/*methods ; Usher Syndromes/Usher Syndromes/Usher Syndromes/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2016 Dec; Vol. 24 (12), pp. 1730-1738. Date of Electronic Publication: 2016 Jul 27.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

  • Authors : McDonnell MT; Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, Framlington Place, Newcastle upon Tyne, UK.; Schaefer AM

Subjects: DNA, Mitochondrial/DNA, Mitochondrial/DNA, Mitochondrial/*genetics ; Epithelial Cells/Epithelial Cells/Epithelial Cells/*chemistry ; Genetic Testing/Genetic Testing/Genetic Testing/*methods

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2004 Sep; Vol. 12 (9), pp. 778-81.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium:

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  • 1-9 of  9 results for ""Deafness""