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Human Mutation, ISSN 1059-7794, 08/2016, Volume 37, Issue 8, pp. 812 - 819
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2015, Volume 97, Issue 4, pp. 535 - 545
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2012, Volume 91, Issue 4, pp. 636 - 645
Journal Article
Molecular Genetics and Genomics, ISSN 1617-4615, 8/2019, Volume 294, Issue 4, pp. 1001 - 1006
Journal Article
Anais Brasileiros de Dermatologia, ISSN 0365-0596, 2017, Volume 92, Issue 5, pp. 154 - 158
Inherited Palmoplantar Keratodermas are rare disorders of genodermatosis that are conventionally regarded as autosomal dominant in inheritance with extensive... 
Diffuse | Keratoderma | Central | Palmoplantar | Hearing loss | central | DEAFNESS | diffuse | palmoplantar | DERMATOLOGY | Keratoderma, palmoplantar | Hearing loss, central | Case Report | Keratoderma, palmoplantar, diffuse
Journal Article
Otology & Neurotology, ISSN 1531-7129, 07/2018, Volume 39, Issue 6, pp. 732 - 738
OBJECTIVES:The purpose of this study is to report the results of a comprehensive etiological work-up for congenitally deaf children including targeted next... 
Cochlear implant | Congenital deafness | Sequencing | Next generation | Sensorineural hearing loss | COCHLEAR IMPLANTATION | VARIANTS | CLINICAL NEUROLOGY | PREDICTION | HEARING-LOSS | OTORHINOLARYNGOLOGY | COHORT | OUTCOMES | MUTATIONS | Research | Nucleotide sequencing | Causes and theories of causation | DNA sequencing | Diseases | Index Medicus
Journal Article
Anais Brasileiros de Dermatologia, ISSN 1806-4841, 2017, Volume 92, Issue 5 suppl 1, pp. 154 - 158
Abstract Inherited Palmoplantar Keratodermas are rare disorders of genodermatosis that are conventionally regarded as autosomal dominant in inheritance with... 
DERMATOLOGY
Journal Article
Journal Article
Hearing, Balance and Communication, ISSN 2169-5717, 09/2013, Volume 11, Issue 3, pp. 138 - 145
Abstract Once a diagnosis of unilateral or bilateral congenital hearing loss is established in an infant by age-specific auditory testing, a search for an... 
deafness | infant | inner ear | Deafness | Infant | Inner ear
Journal Article
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