Increased DNA Methylation at the AXIN1 Gene in a Monozygotic Twin from a Pair Discordant for a Caudal Duplication Anomaly by Oates, N.A., van Vliet, J., Duffy, D.L., Kroes, H.Y., Martin, N.G., Boomsma, D.I., Campbell, M., Coulthard, M.G., Whitelaw, E., Chong, S.

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A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population by Yzer, S, van den Born, L I, Schuil, J, Kroes, H Y, van Genderen, M M, Boonstra, F N, van den Helm, B, Brunner, H G, Koenekoop, R K, Cremers, F P M

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KOUNCIL: Kidney-Oriented Understanding of Correcting Ciliopathies by Stokman, M, Oud, M, Reeuwijk, J Van, Lilien, M, De Kar, N Van, Nijman, I, Gilissen, C, Kroes, HY, Bongers, E, Geijsen, N, Kamsteeg, E, Cuppen, E, Roepman, R, Giles, R, Renkema, K, Arts, H, Knoers, N

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Is There an Association between Maternal Carbamazepine Use during Pregnancy and Eye Malformations in the Child? by Kroes, Hester Y., Reefhuis, Jennita, Cornel, Martina C.

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Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile by Kroes, HY, Pals, G, Van Essen, AJ

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Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships by Schram, Aaltje, Kroes, Hester Y., Sollie, Krystyna, Timmer, Bert, Barth, Peter, van Essen, Ton

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Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome by BLANCK, CHRISTOPHER, KOHLHASE, JÜRGEN, ENGELS, SASKIA, BURFEIND, PETER, ENGEL, WOLFGANG, BOTTANI, ARMAND, PATEL, MILLAN S, KROES, HESTER Y, COBBEN, JAN M

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Mosaic trisomy (8)(p22 → pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences by de Pater, J. M., Kroes, H. Y., Verschuren, M., van Oppen, A. C. C., Albrechts, J. C. M., Engelen, J. J. M.

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Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex‐linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome by Kroes, Hester Y., Nievelstein, Rutger‐Jan A.J., Barth, Peter G., Nikkels, Peter G.J., Bergmann, Carsten, Gooskens, Rob H.J.M., Visser, Gepke, van Amstel, Hans‐Kristian Ploos, Beemer, Frits A.

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Renal defects and limb deficiencies in 197 infants: Is it possible to define the "acrorenal syndrome"? by Kroes, Hester Y., Olney, Richard S., Rosano, Aldo, Liu, Yecai, Castilla, Eduardo E., Cocchi, Guido, De Vigan, Catherine, Martínez-Frías, María L., Mastroiacovo, Pierpaolo, Merlob, Paul, Mutchinick, Osvaldo, Ritvanen, Annukka, Stoll, Claude, van Essen, Anthonie J., Cobben, Jan Maarten, Cornel, Martina C.

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