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American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

Genetics in medicine, 2014-04, Vol.16 (4), p.347-355

2014

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The Expansion of Genetic Testing in Cardiovascular Medicine: Preparing the Cardiology Community for the Changing Landscape

Current cardiology reports, 2024-03, Vol.26 (3), p.135-146

2024

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Enhancing exposure to genetics and genomics through an innovative medical school curriculum

Genetics in medicine, 2012-01, Vol.14 (1), p.163-167

2012

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Medical genetics and genomics curricula focused on the laboratory specialties

Genetics in medicine, 2012-03, Vol.14 (3), p.349-349

2012

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High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss

BMC medical genetics, 2005-08, Vol.6 (1), p.30-30, Article 30

2005

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DNA sequence analysis and genotype–phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy

BMJ open, 2015-05, Vol.5 (5), p.e007506-e007506

2015

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Nonsyndromic hereditary hearing loss

Advances in oto-rhino-laryngology, 2011, Vol.70, p.37-42

Alford, Raye L

2011

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A Novel GJB2 (Connexin 26) Mutation, F142L, in a Patient with Unusual Mucocutaneous Findings and Deafness

Journal of investigative dermatology, 2003-11, Vol.121 (5), p.1221-1223

2003

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Quantitative analysis of herpes simplex virus in cranial nerve ganglia

Journal of neurovirology, 2004-08, Vol.10 (4), p.216-222

2004

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Basic Medical Genetics for the Otolaryngologist

Advances in oto-rhino-laryngology, 2011, Vol.70, p.10-17

2011

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Genetic testing, biotechnology, and GMOs: A snapshot of public opinion, 2003 through 2004

Genetics in medicine, 2005-07, Vol.7 (6), p.454-455

2005

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Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical Genetics

Genetics in medicine, 2003-07, Vol.5 (4), p.338-341

2003

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Enhancing exposure to genetics and genomics through an innovative medical school curriculum

Genetics in medicine, 2011-09, p.1

2011

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Early childhood hearing loss: Clinical and molecular genetics. An educational slide set of the American College of Medical Genetics

Genetics in medicine, 2003-07, Vol.5 (4), p.338-341

2003

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Frequency of a DNA polymorphism at position Y231 in the aspartoacylase gene and its impact on DNA-based carrier testing for Canavan disease in the Ashkenazi Jewish population

Human mutation, 1998, Vol.11 (S1), p.S161-S162

1998

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Stable RNA secondary structure in a retroviral vector insert terminates reverse transcriptase elongation in vitro but not in cultured cells

Human gene therapy, 1990, Vol.1 (3), p.269-276

1990

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Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement

Somatic cell and molecular genetics, 1988-05, Vol.14 (3), p.293-303

1988

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Spontaneous reversion of novel Lesch-Nyhan mutation byHPRT gene rearrangement

Somatic cell and molecular genetics, 1988-05, Vol.14 (3), p.293-303

1988

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A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness

The Journal of investigative dermatology, 2003, Vol.121 (5), p.1221-1223

2003

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Genetic susceptibility to aminoglycoside ototoxicity: How many are at risk?

Genetics in medicine, 2002-09, Vol.4 (5), p.336-345

2002

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Outline of a medical genetics curriculum for internal medicine residency training programs

Genetics in medicine, 2004-11, Vol.6 (6), p.543-547

2004

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Infrequency of two deletion mutations at the DFNB1 locus in patients and controls

American journal of medical genetics. Part A, 2008-04, Vol.146A (7), p.934-936

2008

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Do the genes that cause otosclerosis reduce susceptibility to otitis media?

Otology & neurotology, 2003-11, Vol.24 (6), p.868

2003

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DNA diagnosis in monogenic diseases

International journal of technology assessment in health care, 1994, Vol.10 (4), p.628

1994

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Expression vectors for human adenosine deaminase gene therapy

Genome, 1989-01, Vol.31 (2), p.832

1989

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American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

The Expansion of Genetic Testing in Cardiovascular Medicine: Preparing the Cardiology Community for the Changing Landscape

Enhancing exposure to genetics and genomics through an innovative medical school curriculum

Medical genetics and genomics curricula focused on the laboratory specialties

High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss

DNA sequence analysis and genotype–phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy

Nonsyndromic hereditary hearing loss

A Novel GJB2 (Connexin 26) Mutation, F142L, in a Patient with Unusual Mucocutaneous Findings and Deafness

Quantitative analysis of herpes simplex virus in cranial nerve ganglia

Basic Medical Genetics for the Otolaryngologist

Genetic testing, biotechnology, and GMOs: A snapshot of public opinion, 2003 through 2004

Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical Genetics

Enhancing exposure to genetics and genomics through an innovative medical school curriculum

Early childhood hearing loss: Clinical and molecular genetics. An educational slide set of the American College of Medical Genetics

Frequency of a DNA polymorphism at position Y231 in the aspartoacylase gene and its impact on DNA-based carrier testing for Canavan disease in the Ashkenazi Jewish population

Stable RNA secondary structure in a retroviral vector insert terminates reverse transcriptase elongation in vitro but not in cultured cells

Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement

Spontaneous reversion of novel Lesch-Nyhan mutation byHPRT gene rearrangement

A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness

Genetic susceptibility to aminoglycoside ototoxicity: How many are at risk?

Outline of a medical genetics curriculum for internal medicine residency training programs

Infrequency of two deletion mutations at the DFNB1 locus in patients and controls

Do the genes that cause otosclerosis reduce susceptibility to otitis media?

DNA diagnosis in monogenic diseases

Expression vectors for human adenosine deaminase gene therapy

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