Search details
1.
Genetic causes of moderate to severe hearing loss point to modifiers.
Clin Genet
; 91(4): 589-598, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-27573290
2.
The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan.
Biochem Genet
; 51(5-6): 350-7, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23340767
3.
An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech.
Mov Disord
; 26(12): 2279-83, 2011 Oct.
Article
in English
| MEDLINE | ID: mdl-21953512
4.
Mutations in CLDN14 are associated with different hearing thresholds.
J Hum Genet
; 55(11): 767-70, 2010 Nov.
Article
in English
| MEDLINE | ID: mdl-20811388
5.
A novel homozygous KY variant causing a complex neurological disorder.
Eur J Med Genet
; 63(11): 104031, 2020 Nov.
Article
in English
| MEDLINE | ID: mdl-32818658
6.
Amplification of GC-rich DNA for high-throughput family-based genetic studies.
Mol Biotechnol
; 53(3): 345-50, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-22644933
7.
A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.
JAMA Neurol
; 70(6): 783-7, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23700088
8.
Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss.
Eur J Med Genet
; 55(2): 99-102, 2012 Feb.
Article
in English
| MEDLINE | ID: mdl-22245518
9.
A p.C343S missense mutation in PJVK causes progressive hearing loss.
Gene
; 504(1): 98-101, 2012 Aug 01.
Article
in English
| MEDLINE | ID: mdl-22617256
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