학술논문

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발행년	- (예 : 2010-2015)

'학술논문' 에서 검색결과 3건 | 목록 1~10

전체선택

A RIPOR2in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss

Periodical

de Bruijn, Suzanne E; Smits, Jeroen J; Liu, Chang; Lanting, Cornelis P; Beynon, Andy J; Blankevoort, Joe¨lle; Oostrik, Jaap; Koole, Wouter; de Vrieze, Erik; Cremers, Cor W R J; Cremers, Frans P M; Roosing, Susanne; Yntema, Helger G; Kunst, Henricus P M; Zhao, Bo; Pennings, Ronald J E; Kremer, Hannie

Journal of Medical Genetics (JMG); 2021, Vol. 58 Issue: 2 p96-104, 9p

Full Text (ProQuest Central) Full Text (BMJ Journals) Web of Science JCR 저널정보 Scopus Find it@PNU

Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

Electronic Resource

Smits, Jeroen J; de Bruijn, Suzanne E; Lanting, Cornelis P; Oostrik, Jaap; O'Gorman, Luke; Mantere, Tuomo; Cremers, Frans P M; Roosing, Susanne; Yntema, Helger G; de Vrieze, Erik; Derks, Ronny; Hoischen, Alexander; Pegge, Sjoert A H; Neveling, Kornelia; Pennings, Ronald J E; Kremer, Hannie; van der Schroeff, M.P.

Smits , J J , de Bruijn , S E , DOOFNL Consortium , Lanting , C P , Oostrik , J , O'Gorman , L , Mantere , T , Cremers , F P M , Roosing , S , Yntema , H G , de Vrieze , E , Derks , R , Hoischen , A , Pegge , S A H , Neveling , K , Pennings , R J E , Kremer , H & van der Schroeff , M P 2022 , ' Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant ' , Human Genetics , vol. 141 , no. 3-4 , pp. 465-484 .

Open Access (OAIster)

Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa

Periodical

de Bruijn, Suzanne E; Verbakel, Sanne K; de Vrieze, Erik; Kremer, Hannie; Cremers, Frans P M; Hoyng, Carel B; van den Born, L Ingeborgh; Roosing, Susanne

Journal of Medical Genetics (JMG); 2018, Vol. 55 Issue: 10 p705-712, 8p

Full Text (ProQuest Central) Full Text (BMJ Journals) Web of Science JCR 저널정보 Scopus Find it@PNU

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[AR] de Bruijn, Suzanne E

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