Association of complementation group and mutation type with clinical outcome in Fanconi anemia von Faivre, Laurence, Guardiola, Philippe, Lewis, Cathryn, Dokal, Inderjeet, Ebell, Wolfram, Zatterale, Ariana, Altay, Cigdem, Poole, Janet, Stones, David, Kwee, Mei Lan, van Weel-Sipman, Margreet, Havenga, Charmaine, Morgan, Neil, de Winter, Johan, Digweed, Martin, Savoia, Anna, Pronk, Jan, de Ravel, Thomas, Jansen, Stander, Joenje, Hans, Gluckman, Eliane, Mathew, Christopher G.

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DNA analysis of AHI1 , NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands von Kroes, Hester Y, van Zon, Patrick H.A, van de Putte, Dietje Fransen, Nelen, Marcel R, Nievelstein, Rutger-Jan, Wittebol-Post, Dienke, van Nieuwenhuizen, Onno, Mancini, Grazia M.S, van der Knaap, Marjo S, Kwee, Mei Lan, Maas, Saskia M, Cobben, Jan Maarten, De Nef, Jacques E.E, Lindhout, Dick, Sinke, Richard J

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An Autosomal Dominant High Bone Mass Phenotype in Association With Craniosynostosis in an Extended Family Is Caused by an LRP5 Missense Mutation von Kwee, Mei Lan, Balemans, Wendy, Cleiren, Erna, Gille, Johan JP, Van Der Blij, Frits, Sepers, Jan M, Van Hul, Wim

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Kantaputra type mesomelic dysplasia is associated with duplications of the locus on chromosome 2q von Mundlos, Stefan, Kantaputra, Piranit Nik, Klopocki, Eva, Hennig, Bianca P, Le Caignec, Cedric, Praphanphoj, Verayuth, Kwee, Mei Lan, Shears, Deborah J, Isidor, Bertrand

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DNA analysis of AHI1, NPHP1 and CYCLIN Dl in Joubert syndrome patients from the Netherlands von KROES, Hester Y, VAN ZON, Patrick H. A, MAAS, Saskia M, COBBEN, Jan Maarten, DE NEF, Jacques E. E, LINDHOUT, Dick, SINKE, Richard J, VAN DE PUTTE, Dietje Fransen, NELEN, Marcel R, NIEVELSTEIN, Rutger-Jan, WITTEBOL-POST, Dienke, VAN NIEUWENHUIZEN, Onno, MANCINI, Grazia M. S, VAN DER KNAAP, Marjo S, KWEE, Mei Lan

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Confounding factors in the diagnosis of Fanconi anaemia von Joenje, Hans, Arwert, Fré, Kwee, Mei Lan, Madan, Kamlesh, Hoehn, Holger

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Joubert syndrome: A clinical and pathological description of an affected male and a female fetus from the same sibship von van Dorp, Dieuwke B., Palan, Alzbeta, Kwee, Mei Lan, Barth, Peter G., van der Harten, Johan J.

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