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1 .
International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers
저자
by
Amar, L.
;
Pacak, K.
;
Steichen, O.
;
Akker, S.A.
;
Aylwin, SJB
, et al.
소스
Nature reviews. Endocrinology, vol. 17, no. 7, pp. 435-444
Open Access (OpenAIRE)
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7 .
Karyotype-Specific Ear and Hearing Problems in Young Adults With Turner Syndrome and the Effect of Oxandrolone Treatment
저자
by
Verver, EJJ
;
Freriks, K
;
Sas, Theo
;
Huygen, PLM
;
Pennings, RJE
, et al.
소스
Otology & Neurotology, 35(9), 1577-1584. Lippincott Williams & Wilkins
Scopus
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7 .
Diagnose en transmastoidale chirurgische behandeling
저자
by
Kasper, SM
;
Bruintjes, TD
;
Pullens, Bas
;
Kunst, HPM
;
Otorhinolaryngology and Head and Neck Surgery
.
소스
Nederlands Tijdschrift voor Keel-, Neus-,-Oorheelkunde, 19(2), 61-65. Secretariaat KNO-vereniging
Scopus
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7 . Academic Journal
A novel TECTA mutation in a dutch DFNA8/12 family confirms genotype-phenotype correlation
저자
by
Plantinga, RF
;
De Brouwer, APM
;
Huygen, PLM
;
Kunst, HPM
;
Kremer, H
, et al.
소스
JARO-JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY
; JUN 2006, 7 2, p173-p181, 9p.
Full Text (Springer)
Scopus
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7 . Academic Journal
Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3
저자
by
de Brouwer, APM
;
Kunst, HPM
;
Krebsova, A
;
van Asseldonk, K
;
Reis, A
, et al.
소스
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
; AUG 15 2005, 137A 1, p41-p46, 6p.
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7 . Academic Journal
Audiological characteristics of some affected members of a dutch DFNA13/COL11A2 family
저자
by
De Leenheer, EMR
;
Bosman, AJ
;
Kunst, HPM
;
Huygen, PLM
;
Cremers, CWRJ
.
소스
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY
; NOV 2004, 113 11, p922-p929, 8p.
Scopus
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7 . Academic Journal
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss
저자
by
Bespalova, IN
;
Van Camp, G
;
Bom, SJH
;
Brown, DJ
;
Cryns, K
, et al.
소스
HUMAN MOLECULAR GENETICS
; OCT 15 2001, 10 22, p2501-p2508, 8p.
Full Text (OUP)
Full Text (OUP Near Archive)
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7 . Academic Journal
Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH
저자
by
Bom, SJH
;
De Leenheer, EMR
;
Lemaire, FX
;
Kemperman, MH
;
Verhagen, WIM
, et al.
소스
ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY
; SEP 2001, 127 9, p1045-p1048, 4p.
Full Text (AMA)
Scopus
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7 . Academic Journal
Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13)
저자
by
De Leenheer, EMR
;
Kunst, HPM
;
McGuirt, WT
;
Prasad, SD
;
Brown, MR
, et al.
소스
ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY
; JAN 2001, 127 1, p13-p17, 5p.
Full Text (AMA)
Scopus
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7 . Academic Journal
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
저자
by
McGuirt, WT
;
Prasad, SD
;
Griffith, AJ
;
Kunst, HPM
;
Green, GE
, et al.
소스
NATURE GENETICS
; DEC 1999, 23 4, p413-p419, 7p.
Scopus
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