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Haer-Wigman, Lonneke, van Zelst-Stams, Wendy A. G., Pfundt, Rolph, van den Born, L. Ingeborgh, Klaver, Caroline C. W., Verheij, Joke B. G. M., Hoyng, Carel B., Breuning, Martijn H., Boon, Camiel J. F., Kievit, Anneke J., Verhoeven, Virginie J. M., Pott, Jan W. R., Sallevelt, Suzanne C. E. H., van Hagen, Johanna M., Plomp, Astrid S., Kroes, Hester Y., Lelieveld, Stefan H., Hehir-Kwa, Jayne Y., Castelein, Steven, Nelen, Marcel, Scheffer, Hans, Lugtenberg, Dorien, Cremers, Frans P. M., Hoefsloot, Lies, Yntema, Helger G.
Veröffentlicht in: Haer-Wigman , L , van Zelst-Stams , W A G , Pfundt , R , van den Born , L I , Klaver , C C W , Verheij , J B G M , Hoyng , C B , Breuning , M H , Boon , C J F , Kievit , A J , Verhoeven , V J M , Pott , J W R , Sallevelt , S C E H , van Hagen , J M , Plomp , A S , Kroes , H Y , Lelieveld , S H , Hehir-Kwa , J Y , Castelein , S , Nelen , M , Scheffer , H , Lugtenberg , D , Cremers , F P M , Hoefsloot , L & Yntema , H G 2017 , ' Diagnostic exome sequencing in 266 Dutch patients with visual impairment ' , European Journal of Human Genetics , vol. 25 , no. 5 , pp. 591-599 . https://doi.org/10.1038/ejhg.2017.9;
2017
Veröffentlicht in: Haer-Wigman , L , van Zelst-Stams , W A G , Pfundt , R , van den Born , L I , Klaver , C C W , Verheij , J B G M , Hoyng , C B , Breuning , M H , Boon , C J F , Kievit , A J , Verhoeven , V J M , Pott , J W R , Sallevelt , S C E H , van Hagen , J M , Plomp , A S , Kroes , H Y , Lelieveld , S H , Hehir-Kwa , J Y , Castelein , S , Nelen , M , Scheffer , H , Lugtenberg , D , Cremers , F P M , Hoefsloot , L & Yntema , H G 2017 , ' Diagnostic exome sequencing in 266 Dutch patients with visual impairment ' , European Journal of Human Genetics , vol. 25 , no. 5 , pp. 591-599 . https://doi.org/10.1038/ejhg.2017.9;
2017
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Van Schil, Kristof, Klevering, B. Jeroen, Leroy, Bart P., Pott, Jan Willem R., Bandah-Rozenfeld, Dikla, Zonneveld-Vrieling, Marijke N., Sharon, Dror, den Hollander, Anneke I., Cremers, Frans P. M., De Baere, Elfride, Collin, Rob W. J., van den Born, L. Ingeborgh
Veröffentlicht in: Van Schil , K , Klevering , B J , Leroy , B P , Pott , J W R , Bandah-Rozenfeld , D , Zonneveld-Vrieling , M N , Sharon , D , den Hollander , A I , Cremers , F P M , De Baere , E , Collin , R W J & van den Born , L I 2015 , ' A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa ' , Investigative ophthalmology & visual science , vol. 56 , no. 12 , pp. 7418-7426 . https://doi.org/10.1167/iovs.15-17920;
2015
Veröffentlicht in: Van Schil , K , Klevering , B J , Leroy , B P , Pott , J W R , Bandah-Rozenfeld , D , Zonneveld-Vrieling , M N , Sharon , D , den Hollander , A I , Cremers , F P M , De Baere , E , Collin , R W J & van den Born , L I 2015 , ' A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa ' , Investigative ophthalmology & visual science , vol. 56 , no. 12 , pp. 7418-7426 . https://doi.org/10.1167/iovs.15-17920;
2015