PMC Articles for MedGen (Select 324838) - PMC - NCBI

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Items: 5

Select item 90070941.

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study

Anke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, Saskia Dofek, Björn Schulte, Martin Schulze, Florian Battke, Sarah Fehr, Saskia Biskup, Andreas Heyd, Marcus Müller, Hubert Löwenheim, Barbara Vona, Martin Holderried

Ear Hear. 2022 May-Jun; 43(3): 1049–1066. Published online 2021 Nov 8. doi: 10.1097/AUD.0000000000001159

PMCID:: PMC9007094

Abstract Article PDF–1.3M

Select item 83913422.

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss

Roxane Van Heurck, Maria Teresa Carminho-Rodrigues, Emmanuelle Ranza, Caterina Stafuzza, Lina Quteineh, Corinne Gehrig, Eva Hammar, Michel Guipponi, Marc Abramowicz, Pascal Senn, Nils Guinand, Helene Cao-Van, Ariane Paoloni-Giacobino

Genes (Basel) 2021 Aug; 12(8): 1277. Published online 2021 Aug 20. doi: 10.3390/genes12081277

PMCID:: PMC8391342

Abstract Article PDF–1.2M

Select item 72997293.

Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families

Xiaohui Bai, Fengguo Zhang, Yun Xiao, Yu Jin, Qingyin Zheng, Haibo Wang, Lei Xu

J Cell Mol Med. 2020 Jun; 24(12): 6978–6987. Published online 2020 May 11. doi: 10.1111/jcmm.15359

PMCID:: PMC7299729

Abstract Article PDF–1.1M

Select item 24669254.

Waardenburg's syndrome and familial periodic paralysis

C. H. Tay

Postgrad Med J. 1971 Jun; 47(548): 354–360. doi: 10.1136/pgmj.47.548.354

PMCID:: PMC2466925

Summary Page Browse PDF–1.8M

Select item 10276365.

Autosomal dominant late onset cerebellar ataxia with myoclonus, peripheral neuropathy and sensorineural deafness: a clinicopathological report.

M Baraitser, W Gooddy, A M Halliday, A E Harding, P Rudge, F Scaravilli

J Neurol Neurosurg Psychiatry. 1984 Jan; 47(1): 21–25. doi: 10.1136/jnnp.47.1.21

PMCID:: PMC1027636

Summary Page Browse PDF–1.1M

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