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Quoted phrase not found in phrase index: "Autosomal recessive nonsyndromic hearing loss 70"
Page 1
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
Hum Mutat. 2014 Jul;35(7):819-23. doi: 10.1002/humu.22557. Epub 2014 May 6.
Hum Mutat. 2014.
PMID: 24729539
Free PMC article.
Over 70 genes have been identified to date, and with the advent of massively parallel sequencing, the pace of novel gene discovery has accelerated. In a family segregating progressive autosomal-dominant nonsyndromic hearing loss (NSHL), we used OtoSCOP …
Over 70 genes have been identified to date, and with the advent of massively parallel sequencing, the pace of novel gene discovery has accel …
Functional Characterization of the MYO6 Variant p.E60Q in Non-Syndromic Hearing Loss Patients.
Alkowari M, Espino-Guarch M, Daas S, Abdelrahman D, Hasan W, Krishnamoorthy N, Sathappan A, Sheehan P, Panhuys NV, The Qatar Genome Program Research Consortium, Estivill X.
Alkowari M, et al.
Int J Mol Sci. 2022 Mar 21;23(6):3369. doi: 10.3390/ijms23063369.
Int J Mol Sci. 2022.
PMID: 35328790
Free PMC article.
Hereditary hearing loss (HHL) is a common genetic disorder accounting for at least 60% of pre-lingual deafness in children, of which 70% is inherited in an autosomal recessive pattern. The long tradition of consanguinity among the Qatari population has increased the …
Hereditary hearing loss (HHL) is a common genetic disorder accounting for at least 60% of pre-lingual deafness in children, of which 70% is …
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Connexin mutation testing of children with nonsyndromic, autosomal recessive sensorineural hearing loss.
Thomas MA, Der Kaloustian VM, Tewfik TL.
Thomas MA, et al.
J Otolaryngol. 2004 Jun;33(3):189-92. doi: 10.2310/7070.2004.00189.
J Otolaryngol. 2004.
PMID: 15841999
This article presents the detection rate of connexin mutations in a multiethnic Canadian population. METHODS: A study of patients with nonsyndromic hearing loss seen over a period of 2 years who had connexin 26 mutation testing. ...Testing for connexin mutati …
This article presents the detection rate of connexin mutations in a multiethnic Canadian population. METHODS: A study of patients with no …
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