Detalhe da pesquisa
1.
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Nephrol Dial Transplant
; 36(2): 295-305, 2021 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31738409
2.
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Hum Genet
; 135(4): 441-450, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26969326
3.
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.
J Med Genet
; 52(8): 523-31, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25986071
4.
Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population.
Am J Med Genet A
; 152A(1): 67-74, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20034061
5.
Gene expression profiling analysis of the inner ear.
Hear Res
; 225(1-2): 1-10, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17300888
6.
Collaborative Counseling Considerations for Pharmacogenomic Tests.
Pharmacotherapy
; 37(9): 990-999, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28672074
7.
DNM1 encephalopathy: A new disease of vesicle fission.
Neurology
; 89(4): 385-394, 2017 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-28667181
8.
Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency.
Brain Dev
; 38(9): 848-51, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27126216
9.
Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.
Biomed Res Int
; 2016: 6421039, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27243033
10.
Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness.
Arch Otolaryngol Head Neck Surg
; 131(12): 1057-63, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16365218
11.
Functional variants in NOS1 and NOS2A are not associated with progressive hearing loss in Ménière's disease in a European Caucasian population.
DNA Cell Biol
; 30(9): 699-708, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21612410
12.
The role of patient engagement in personalized healthcare.
Per Med
; 11(1): 1-4, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29751391