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발행년	- (예 : 2010-2015)

전체선택

Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.

Academic Journal

Bassani, Sissy; Beelen, Edward van; Rossel, Mireille; Voisin, Norine; Morgan, Anna; Arribat, Yoan; Chatron, Nicolas; Chrast, Jacqueline; Cocca, Massimiliano; Delprat, Benjamin; Faletra, Flavio; Giannuzzi, Giuliana; Guex, Nicolas; Machavoine, Roxane; Pradervand, Sylvain; Smits, Jeroen J; Kamp, Jiddeke M van de; Ziegler, Alban; Amati, Francesca; Marlin, Sandrine

Human Molecular Genetics; Oct2021, Vol. 30 Issue 19, p1785-1796, 12p

Full Text (Oxford University Press) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Electronic Resource

Reurink, Janine; Weisschuh, Nicole; Garanto, Alejandro; Dockery, Adrian; van den Born, L Ingeborgh; Fajardy, Isabelle; Haer-Wigman, Lonneke; Kohl, Susanne; Wissinger, Bernd; Farrar, G Jane; Ben-Yosef, Tamar; Pfiffner, Fatma Kivrak; Berger, Wolfgang; Weener, Marianna E; Dudakova, Lubica; Liskova, Petra; Sharon, Dror; Salameh, Manar; Offenheim, Ashley; Heon, Elise; Girotto, Giorgia; Gasparini, Paolo; Morgan, Anna; Bergen, Arthur A; Ten Brink, Jacoline B; Klaver, Caroline C W; Tranebjærg, Lisbeth; Rendtorff, Nanna D; Vermeer, Sascha; Smits, Jeroen J; et al

Open Access (OAIster)

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 (BMJ Journals) Full Text (ProQuest Central) 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)

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