Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia
Onoufriadis, Alexandros, Paff, Tamara, Antony, Dinu, Shoemark, Amelia, Micha, Dimitra, Kuyt, Bertus, Schmidts, Miriam, Petridi, Stavroula, Dankert-Roelse, Jeanette E., Haarman, Eric G., Daniels, Johannes M.A., Emes, Richard D., Wilson, Robert, Hogg, Claire, Scambler, Peter J., Chung, Eddie M.K., Pals, Gerard, Mitchison, Hannah M.
Published in American journal of human genetics (10.01.2013)
Published in American journal of human genetics (10.01.2013)
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A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites
de Vries, Yne, Lwiwski, Nikki, Levitus, Marieke, Kuyt, Bertus, Israels, Sara J., Arwert, Fré, Zwaan, Michel, Greenberg, Cheryl R., Alter, Blanche P., Joenje, Hans, Meijers-Heijboer, Hanne
Published in Anemia (01.01.2012)
Published in Anemia (01.01.2012)
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Incidence and survival of retinoblastoma in the Netherlands: a register based study 1862–1995
Moll, Annette C, Kuik, D Joop, Bouter, Lex M, Den Otter, Willem, Bezemer, P Dick, Koten, Jan Willem, Imhof, Saskia M, Kuyt, Bertus P, Tan, Karel E W P
Published in British journal of ophthalmology (01.07.1997)
Published in British journal of ophthalmology (01.07.1997)
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The Gene for Leukoencephalopathy with Vanishing White Matter Is Located on Chromosome 3q27
Leegwater, Peter A.J., Könst, Andrea A.M., Kuyt, Bertus, Sandkuijl, Lodewijk A., Naidu, SakkuBai, Oudejans, Cees B.M., Schutgens, Ruud B.H., Pronk, Jan C., van der Knaap, Marjo S.
Published in American journal of human genetics (01.09.1999)
Published in American journal of human genetics (01.09.1999)
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Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36
Zguricas, Julia, Heus, Henk, Morales-Peralta, Estela, Breedveld, Guido, Kuyt, Bertus, Mumcu, Ethem F, Bakker, Wendela, Akarsu, Nurten, Kay, Simon P J, Hovius, Steven E R, Heredero-Baute, Luis, Oostra, Ben A, Heutink, Peter
Published in Journal of medical genetics (01.01.1999)
Published in Journal of medical genetics (01.01.1999)
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