Classification of Osteogenesis Imperfecta revisited von Van Dijk, F.S, Pals, G, Van Rijn, R.R, Nikkels, P.G.J, Cobben, J.M

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NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield von Overwater, E, Floor, K, van Beek, D, de Boer, K, van Dijk, T, Hilhorst-Hofstee, Y, Hoogeboom, A.J.M, van Kaam, K.J, van de Kamp, J.M, Kempers, M, Krapels, I.P.C, Kroes, H.Y, Loeys, B, Salemink, S, Stumpel, C.T.R.M, Verhoeven, V.J.M, Wijnands-van den Berg, E, Cobben, J.M, van Tintelen, J.P, Weiss, M.M, Houweling, A.C, Maugeri, A

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A de novo mutation in ZMYND11 , a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability von Cobben, J.M, Weiss, M.M, van Dijk, F.S, De Reuver, R, de Kruiff, C, Pondaag, W, Hennekam, R.C, Yntema, H.G

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Survival in SMA type I: A prospective analysis of 34 consecutive cases von Cobben, J.M, Lemmink, H.H, Snoeck, I, Barth, P.A, van der Lee, J.H, de Visser, M

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P628: Electrophysiological data of DSMA1 patients in the Netherlands von Stalpers, X, Verrips, A, Poll-The, B.-T, Cobben, J.M, Snoeck, I, de Coo, I, Brooks, A, Bulk, S, Gooskens, R, Fock, A

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Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS von VELDINK, J. H, VAN DEN BERG, L. H, COBBEN, J. M, STULP, R. P, DE JONG, J. M. B. V, VOGELS, O. J, BAAS, F, WOKKE, J. H. J, SCHEFFER, H

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PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy von van der Steege, G., Grootscholten, P.M., van der Vlies, P., Draaijers, T.G., Osinga, J., Cobben, J.M., Scheffer, H., Buys, C.H.C.M.

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Compound-heterozygous Marfan syndrome von Van Dijk, F.S, Hamel, B.C, Hilhorst-Hofstee, Y, Mulder, B.J.M, Timmermans, J, Pals, G, Cobben, J.M

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Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: A uniqu... von Van Dijk, F.S, van Thuijl, H.F, Wermeskerken, A, van Rijn, R.R, Cobben, J.M

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Osteogenesis Imperfecta: A Review with Clinical Examples von van Dijk, F.S., Cobben, J.M., Kariminejad, A., Maugeri, A., Nikkels, P.G.J., van Rijn, R.R., Pals, G.

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Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: Buccal smear analysis should remain the diagnostic procedure of first choice von Cobben, J.M., Engelen, M., Polstra, A.

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SMN gene deletion in variant of infantile spinal muscular atrophy von Bürglen, L., Spiegel, R., Ignatius, J., Cobben, J.M., Landrieu, P., Lefebvre, S., Munnich, A., Melki, J.

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De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females von Palmer, E.E, Stuhlmann, T, Weinert, S, Haan, E, Van Esch, Hilde, Holvoet, M, Boyle, J, Leffler, M, Raynaud, M, Moraine, C, van Bokhoven, H, Kleefstra, T, Kahrizi, K, Najmabadi, H, Ropers, H.-H, Delgado, M.R, Sirsi, D, Golla, S, Sommer, A, Pietryga, M.P, Chung, W.K, Wynn, J, Rohena, L, Bernardo, E, Hamlin, D, Faux, B.M, Grange, D.K, Manwaring, L, Tolmie, J, Joss, S, DDD Study, Cobben, J.M, Duijkers, F.A.M, Goehringer, J.M, Challman, T.D, Hennig, F, Fischer, U, Grimme, A, Suckow, V, Musante, L, Nicholl, J, Shaw, M, Lodh, S.P, Niu, Z, Rosenfeld, J.A, Stankiewicz, P, Jentsch, T.J, Gecz, J, Field, M, Kalscheuer, V.M

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A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient von Setijowati, E.D, van Dijk, F.S, Cobben, J.M, van Rijn, R.R, Sistermans, E.A, Faradz, S.M.H, Kawiyana, S, Pals, G

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A novel homozygous 5bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient von Setijowati, E.D., van Dijk, F.S., Cobben, J.M., van Rijn, R.R., Sistermans, E.A., Faradz, S.M.H., Kawiyana, S., Pals, G.

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Novel KCNQ1 and HERG missense mutations in Dutch long-QT families von Jongbloed, R.J.E., Wilde, A.A.M., Geelen, J.L.M.C., Doevendans, P., Schaap, C., Van Langen, I., van Tintelen, J.P., Cobben, J.M., Beaufort-Krol, G.C.M., Geraedts, J.P.M., Smeets, H.J.M.

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Novel KCNQ1 and HERG missense mutations in Dutch long‐QT families von Jongbloed, R.J.E., Wilde, A.A.M., Geelen, J.L.M.C., Doevendans, P., Schaap, C., Van Langen, I., van Tintelen, J.P., Cobben, J.M., Beaufort‐Krol, G.C.M., Geraedts, J.P.M., Smeets, H.J.M.

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First Trimester Diagnosis of Split Hand/Foot by Transvaginal Ultrasound von Haak, M.C., Cobben, J.M., van Vugt, J.M.G.

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On the many faces of Leber hereditary optic neuropathy von Oostra, R.J., Tijmes, N.T., Cobben, J.M., Boihuis, P.A., van Nesselrooij, B.P.M., Houtman, W.A., de Kok-Nazaruk, M.M., Bleeker-Wagemakers, E.M.

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O-144. Development of preimplantation genetic diagnosis of spinal muscular atrophy von Dreesen, J.C.F.M., Bras, M., Smeets, H.J.M., Cobben, J.M., de Die-Smulders, C., Dumoulin, J.C.M., Evers, J.L.H., Geraedts, J.P.M.

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