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Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6419, doi. 10.3390/ijms22126419
By:
- Reurink, Janine;
- Dockery, Adrian;
- Oziębło, Dominika;
- Farrar, G. Jane;
- Ołdak, Monika;
- ten Brink, Jacoline B.;
- Bergen, Arthur A.;
- Rinne, Tuula;
- Yntema, Helger G.;
- Pennings, Ronald J. E.;
- van den Born, L. Ingeborgh;
- Aben, Marco;
- Oostrik, Jaap;
- Venselaar, Hanka;
- Plomp, Astrid S.;
- Khan, M. Imran;
- van Wijk, Erwin;
- Cremers, Frans P. M.;
- Roosing, Susanne;
- Kremer, Hannie
Publication type:
Article
TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction.
Published in:
2014
By:
- Ragancokova, Daniela;
- Rocca, Elena;
- Oonk, Anne M M;
- Schulz, Herbert;
- Rohde, Elvira;
- Bednarsch, Jan;
- Feenstra, Ilse;
- Pennings, Ronald J E;
- Wende, Hagen;
- Garratt, Alistair N
Publication type:
journal article
TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction.
Published in:
Journal of Clinical Investigation, 2014, v. 124, n. 3, p. 1214, doi. 10.1172/JCI72466
By:
- Ragancokova, Daniela;
- Rocca, Elena;
- Oonk, Anne M. M.;
- Schulz, Herbert;
- Rohde, Elvira;
- Bednarsch, Jan;
- Feenstra, Ilse;
- Pennings, Ronald J. E.;
- Wende, Hagen;
- Garratt, Alistair N.
Publication type:
Article
Efficacy of diagnostic upper node evaluation during (salvage) laryngectomy for supraglottic carcinoma.
Published in:
Head & Neck, 2009, v. 31, n. 2, p. 158, doi. 10.1002/hed.20948
By:
- Pennings, Ronald J. E.;
- Marres, Henri A. M.;
- den Heeten, Annemarie;
- van den Hoogen, Frank J. A.
Publication type:
Article
Laser treatment of symptomatic anterior pharyngeal pouches after laryngectomy.
Published in:
Head & Neck, 1999, v. 21, n. 4, p. 310, doi. 10.1002/(SICI)1097-0347(199907)21:4<310::AID-HED3>3.0.CO;2-D
By:
- Pennings, Ronald J. E.;
- van den Hoogen, Frank J. A.;
- Marres, Henri A. M.
Publication type:
Article
Phenotype of the first otosclerosis family linked to OTSC10.
Published in:
Laryngoscope, 2011, v. 121, n. 4, p. 838, doi. 10.1002/lary.21463
By:
- Weegerink, Nicole J. D.;
- Schrauwen, Isabelle;
- Huygen, Patrick L. M.;
- Pennings, Ronald J. E.;
- Cremers, Cor W. R. J.;
- Van Camp, Guy;
- Kunst, Henricus P. M.
Publication type:
Article
Risk factors for complications in cochlear implant surgery.
Published in:
European Archives of Oto-Rhino-Laryngology, 2018, v. 275, n. 4, p. 895, doi. 10.1007/s00405-018-4901-z
By:
- Theunisse, Henricus J.;
- Pennings, Ronald J. E.;
- Kunst, Henricus P. M.;
- Mulder, Jef J.;
- Mylanus, Emmanuel A. M.
Publication type:
Article
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
Published in:
Human Genetics, 2019, v. 138, n. 1, p. 61, doi. 10.1007/s00439-018-1965-1
By:
- DOOFNL Consortium;
- Beynon, Andy J.;
- Admiraal, Ronald J. C.;
- Lanting, Cornelis P.;
- Smits, Jeroen J.;
- Oostrik, Jaap;
- Pennings, Ronald J. E.;
- Kremer, Hannie;
- Schraders, Margit;
- Yntema, Helger G.;
- Kant, Sarina G.;
- de Koning Gans, Pia A. M.;
- Rotteveel, Liselotte J. C.;
- Klein Wassink-Ruiter, Jolien S.;
- Free, Rolien H.;
- Maas, Saskia M.;
- van de Kamp, Jiddeke;
- Merkus, Paul;
- Koole, Wouter;
- Feenstra, Ilse
Publication type:
Article
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
Published in:
Human Genetics, 2004, v. 115, n. 2, p. 149, doi. 10.1007/s00439-004-1137-3
By:
- Luijendijk, Mirjam W. J.;
- van Wijk, Erwin;
- Bischoff, Anne M. L. C.;
- Krieger, Elmar;
- Huygen, Patrick L. M.;
- Pennings, Ronald J. E.;
- Brunner, Han G.;
- Cremers, Cor W. R. J.;
- Cremers, Frans P. M.;
- Kremer, Hannie
Publication type:
Article
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
Published in:
Human Genetics, 2002, v. 110, n. 5, p. 389, doi. 10.1007/s00439-002-0719-1
By:
- Cryns, Kim;
- Pfister, Markus;
- Pennings, Ronald J. E.;
- Bom, Steven J. H.;
- Flothmann, Kris;
- Caethoven, Goele;
- Kremer, Hannie;
- Schatteman, Isabelle;
- Köln, Karen A.;
- Tóth, Tímea;
- Kupka, Susan;
- Blin, Nikolaus;
- Nürnberg, Peter;
- Thiele, Holger;
- van de Heyning, Paul H.;
- Reardon, William;
- Stephens, Dafydd;
- Cremers, Cor W. R. J.;
- Smith, Richard J. H.;
- Camp, Guy Van
Publication type:
Article
Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.
Published in:
Biomolecules (2218-273X), 2022, v. 12, n. 2, p. 220, doi. 10.3390/biom12020220
By:
- Robijn, Sybren M. M.;
- Smits, Jeroen J.;
- Sezer, Kadriye;
- Huygen, Patrick L. M.;
- Beynon, Andy J.;
- van Wijk, Erwin;
- Kremer, Hannie;
- de Vrieze, Erik;
- Lanting, Cornelis P.;
- Pennings, Ronald J. E.
Publication type:
Article
Phenotypes of Two Dutch DFNA3 Families With Mutations in GJB2.
Published in:
Annals of Otology, Rhinology & Laryngology, 2011, v. 120, n. 3, p. 191, doi. 10.1177/000348941112000308
By:
- Weegerink, Nicole J. D.;
- Pennings, Ronald J. E.;
- Huygen, Patrick L. M.;
- Hoefsloot, Lies H.;
- Cremers, Cor W. R. J.;
- Kunst, Henricus P. M.
Publication type:
Article
Postauricular Approach Atticotomy: A Modified Closed Technique With Reconstruction of the Scutum With Cymbal Cartilage.
Published in:
Annals of Otology, Rhinology & Laryngology, 2009, v. 118, n. 3, p. 199, doi. 10.1177/000348940911800307
By:
- Pennings, Ronald J. E.;
- Cremers, Cor W. R. J.
Publication type:
Article
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
Published in:
2011
By:
- Weegerink, Nicole;
- Schraders, Margit;
- Oostrik, Jaap;
- Huygen, Patrick;
- Strom, Tim;
- Granneman, Susanne;
- Pennings, Ronald;
- Venselaar, Hanka;
- Hoefsloot, Lies;
- Elting, Mariet;
- Cremers, Cor;
- Admiraal, Ronald;
- Kremer, Hannie;
- Kunst, Henricus;
- Weegerink, Nicole J D;
- Huygen, Patrick L M;
- Strom, Tim M;
- Pennings, Ronald J E;
- Hoefsloot, Lies H;
- Cremers, Cor W R J
Publication type:
journal article
Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38.
Published in:
Genes, 2023, v. 14, n. 2, p. 457, doi. 10.3390/genes14020457
By:
- Velde, Hedwig M.;
- Huizenga, Xanne J. J.;
- Yntema, Helger G.;
- Haer-Wigman, Lonneke;
- Beynon, Andy J.;
- Oostrik, Jaap;
- Pegge, Sjoert A. H.;
- Kremer, Hannie;
- Lanting, Cris P.;
- Pennings, Ronald J. E.
Publication type:
Article

Found: 15