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SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma
- Huai-Xiang Hao, O. Khalimonchuk, J. Rutter
- BiologyScience
- 28 August 2009
TLDR
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness
- F. Karet, K. Finberg, R. Lifton
- Biology, MedicineNature Genetics
- 1999
TLDR
GJB2 mutations and degree of hearing loss: a multicenter study.
- R. Snoeckx, P. Huygen, G. Van Camp
- Medicine, BiologyAmerican journal of human genetics
- 1 December 2005
TLDR
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
- J. Eudy, M. D. Weston, J. Sumegi
- Medicine, BiologyScience
- 12 June 1998
TLDR
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
TLDR
Occupational Noise, Smoking, and a High Body Mass Index are Risk Factors for Age-related Hearing Impairment and Moderate Alcohol Consumption is Protective: A European Population-based Multicenter…
- E. Fransen, V. Topsakal, G. Van Camp
- MedicineJournal of the Association for Research in…
- 10 June 2008
TLDR
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.
- E. van Wijk, R. Pennings, H. Kremer
- BiologyAmerican journal of human genetics
- 1 April 2004
TLDR
Mutations in different components of FGF signaling in LADD syndrome
- E. Rohmann, H. Brunner, B. Wollnik
- Medicine, BiologyNature Genetics
- 26 February 2006
TLDR
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
- J. Bayley, H. Kunst, M. Robledo
- Medicine, BiologyThe Lancet. Oncology
- 1 April 2010
Bone-Anchored Hearing Aids in Unilateral Inner Ear Deafness: An Evaluation of Audiometric and Patient Outcome Measurements
- M. Hol, A. Bosman, A. Snik, E. Mylanus, C. Cremers
- MedicineOtology & neurotology : official publication of…
- 1 September 2005
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