Detalhe da pesquisa
1.
National Society of Genetic Counselors Code of Ethics: Explication of 2017 Revisions.
J Genet Couns
; 27(1): 9-15, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29075947
2.
Social comparisons and quality of life following a prostate cancer diagnosis.
J Psychosoc Oncol
; 36(3): 350-363, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29424665
3.
Effects of undergoing multiplex genetic susceptibility testing on parent attitudes towards testing their children.
Ann Behav Med
; 47(3): 388-94, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24338635
4.
Factors associated with perceived uncertainty among parents of children with undiagnosed medical conditions.
Am J Med Genet A
; 158A(8): 1877-84, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22711240
5.
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.
J Med Genet
; 48(11): 767-75, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21940737
6.
The relationship between the genetic counseling profession and the disability community: a commentary.
Am J Med Genet A
; 155A(8): 1777-85, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21567935
7.
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
Hum Mutat
; 30(4): 599-608, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19204907
8.
Modification of human hearing loss by plasma-membrane calcium pump PMCA2.
N Engl J Med
; 352(15): 1557-64, 2005 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-15829536
9.
Investigation of the role of congenital cytomegalovirus infection in the etiology of enlarged vestibular aqueducts.
Arch Otolaryngol Head Neck Surg
; 131(5): 388-92, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15897416
10.
Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.
JAMA Otolaryngol Head Neck Surg
; 139(9): 907-13, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24051746
11.
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.
N Engl J Med
; 348(17): 1664-70, 2003 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-12711741
12.
SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct.
Laryngoscope
; 120(2): 384-9, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19998422
13.
Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts.
Arch Otolaryngol Head Neck Surg
; 135(7): 670-6, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19620588
14.
Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.
Am J Med Genet A
; 143A(14): 1592-8, 2007 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17567890
15.
Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28.
Hum Mol Genet
; 11(23): 2877-85, 2002 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12393799