X-Linked Sensorineural Hearing Loss: A Literature Review

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X-Linked Sensorineural Hearing Loss: A Literature Review

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im August 2018 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована в серпні 2018

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X-Linked Sensorineural Hearing Loss: A Literature Review

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X-Linked Sensorineural Hearing Loss: A Literature Review

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X-Linked Sensorineural Hearing Loss: A Literature Review

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X-Linked Sensorineural Hearing Loss: A Literature Review

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X-Linked Sensorineural Hearing Loss: A Literature Review

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X-Linked Sensorineural Hearing Loss: A Literature Review

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P1476

X-Linked Sensorineural Hearing Loss: A Literature Review

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P2093

Annamaria Franzé

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Carla Laria

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Gennaro Auletta

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Pasqualina Apisa

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Rita Malesci

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Virginia Corvino

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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

Arts syndrome is caused by loss-of-function mutations in PRPS1

Identification of the gene for oral-facial-digital type I syndrome

Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene

Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2

Genetics of Nonsyndromic Congenital Hearing Loss

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327-338

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scholarly article

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10.2174/1389202919666171218163046

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English

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2018-08-01T00:00:00Z

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30065609

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6030855

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