A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome von Monteferrario, Davide, Bolar, Nikhita A, Marneth, Anna E, Hebeda, Konnie M, Bergevoet, Saskia M, Veenstra, Hans, Laros-van Gorkom, Britta A.P, MacKenzie, Marius A, Khandanpour, Cyrus, Botezatu, Lacramiora, Fransen, Erik, Van Camp, Guy, Duijnhouwer, Anthonie L, Salemink, Simone, Willemsen, Brigith, Huls, Gerwin, Preijers, Frank, Van Heerde, Waander, Jansen, Joop H, Kempers, Marlies J.E, Loeys, Bart L, Van Laer, Lut, Van der Reijden, Bert A

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Health- related quality of life and self-worth in 10-year old children with congenital hypothyroidism diagnosed by neonatal screening von van der Sluijs Veer, Liesbeth, Kempers, Marlies Je, Maurice-Stam, Heleen, Last, Bob F, Vulsma, Tom, Grootenhuis, Martha A

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Phenotype of COL3A1/COL5A2 deletion patients von Kempers, Marlies JE, Wessels, Marja, Van Berendoncks, An, van de Laar, Ingrid MBH, de Leeuw, Nicole, Loeys, Bart

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Inactivating Mutations in the Gene for Thyroid Oxidase 2 (THOX2) and Congenital Hypothyroidism von Moreno, José C, Bikker, Hennie, Kempers, Marlies J.E, van Trotsenburg, A.S. Paul, Baas, Frank, de Vijlder, Jan J.M, Vulsma, Thomas, Ris-Stalpers, C

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Comparability of different Z-score equations for aortic root dimensions in children with Marfan syndrome von Rutten, Dominiek W.E., Aarts-Janssen, Ilse J.H., Kempers, Marlies J.E., Reimer, Annette G., Udink ten Cate, Floris E.A., Loeys, Bart L., Slieker, Martijn G.

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Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN) von van de Laar, Ingrid M.B.H., Baas, Annette F., De Backer, Julie, Blankenstein, Jan D., Dulfer, Eelco, Helderman-van den Enden, Apollonia T.J.M., Houweling, Arjan C., Kempers, Marlies JE, Loeys, Bart, Malfait, Fransiska, Robert, Leema, Tanteles, George, Frank, Michael

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Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN) von van de Laar, Ingrid M.B.H, Baas, Annette F, De Backer, Julie, Blankenstein, Jan D, Dulfer, Eelco, Helderman-van den Enden, Apollonia T.J.M, Houweling, Arjan C, Kempers, Marlies JE, Loeys, Bart, Malfait, Fransiska, Robert, Leema, Tanteles, George, Frank, Michael

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Neonatal Screening for Congenital Hypothyroidism in The Netherlands: Cognitive and Motor Outcome at 10 Years of Age von Kempers, Marlies J. E., van der Sluijs Veer, Liesbeth, Nijhuis-van der Sanden, Ria W. G., Lanting, Caren I., Kooistra, Libbe, Wiedijk, Brenda M., Last, Bob F., de Vijlder, Jan J. M., Grootenhuis, Martha A., Vulsma, Thomas

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Abstract A37: MSI is not an important feature in early onset pancreatic carcinoma von Zanten, Monica AJ Van, Kempers, Marlies JE, Ligtenberg, Marjolijn JL, Nagtegaal, Iris D.

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HIGH COLORECTAL AND LOW ENDOMETRIAL CANCER RISK IN EPCAM DELETION-POSITIVE LYNCH SYNDROME: A COHORT STUDY von Kempers, Marlies JE, Kuiper, Roland P, Ockeloen, Charlotte W, Chappuis, Pierre O, Hutter, Pierre, Rahner, Nils, Schackert, Hans K, Steinke, Verena, Holinski-Feder, Elke, Morak, Monika, Kloor, Matthias, Büttner, Reinhard, Verwiel, Eugene TP, van Krieken, J. Han, Nagtegaal, Iris D, Goossens, Monique, van der Post, Rachel S., Niessen, Renée C, Sijmons, Rolf H, Kluijt, Irma, Hogervorst, Frans BL, Leter, Edward M, Gille, Johan JP, Aalfs, Cora M, Redeker, Egbert JW, Hes, Frederik J, Tops, Carli MJ, van Nesselrooij, Bernadette PM, van Gijn, Marielle E, García, Encarna B Gómez, Eccles, Diana M, Bunyan, David J, Syngal, Sapna, Stoffel, Elena M, Culver, Julie O, Palomares, Melanie R, Graham, Tracy, Velsher, Lea, Papp, Janos, Oláh, Edith, Chan, Tsun L, Leung, Suet Y, van Kessel, Ad Geurts, Kiemeney, Lambertus ALM, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn JL

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Effect of naproxen on the hypothalamicapituitarya adrenal axis in healthy volunteers von Eijsbouts, Agnes MM, Kempers, Marlies JE, Kramer, Renske SA, Hopman, Maria TE, van den Hoogen, Frank HJ, Laan, Ronald FJM, Hermus, Ad RMM, Sweep, Fred CGJ, van de Putte, Leo BA

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Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm von Lindsay, Mark E, Schepers, Dorien, Bolar, Nikhita Ajit, Doyle, Jefferson J, Gallo, Elena, Fert-Bober, Justyna, Kempers, Marlies J E, Fishman, Elliot K, Chen, Yichun, Myers, Loretha, Bjeda, Djahita, Oswald, Gretchen, Elias, Abdallah F, Levy, Howard P, Anderlid, Britt-Marie, Yang, Margaret H, Bongers, Ernie M H F, Timmermans, Janneke, Braverman, Alan C, Canham, Natalie, Mortier, Geert R, Brunner, Han G, Byers, Peter H, Van Eyk, Jennifer, Van Laer, Lut, Dietz, Harry C, Loeys, Bart L

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