A recognizable type of syndromic short stature with arthrogryposis caused by bi‐allelic SEMA3A loss‐of‐function variants von Baumann, M., Steichen‐Gersdorf, E., Krabichler, B., Müller, T., Janecke, A.R.

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Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13 von Giunta, Cecilia, Elçioglu, Nursel H., Albrecht, Beate, Eich, Georg, Chambaz, Céline, Janecke, Andreas R., Yeowell, Heather, Weis, MaryAnn, Eyre, David R., Kraenzlin, Marius, Steinmann, Beat

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Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa von Schuster, A, Weisschuh, N, Jägle, H, Besch, D, Janecke, A R, Zierler, H, Tippmann, S, Zrenner, E, Wissinger, B

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Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation von Jensen, Lars Riff, Amende, Marion, Gurok, Ulf, Moser, Bettina, Gimmel, Verena, Tzschach, Andreas, Janecke, Andreas R., Tariverdian, Gholamali, Chelly, Jamel, Fryns, Jean-Pierre, Van Esch, Hilde, Kleefstra, Tjitske, Hamel, Ben, Moraine, Claude, Gécz, Jozef, Turner, Gillian, Reinhardt, Richard, Kalscheuer, Vera M., Ropers, Hans-Hilger, Lenzner, Steffen

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Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family von JANECKE, ANDREAS R, UNSINN, KARIN, KRECZY, ALFONS, BALDISSERA, IVO, GASSNER, INGMAR, NEU, NIKOLAUS, UTERMANN, GERD, MÜLLER, THOMAS

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Mutation spectrum of type I glycogen storage disease in Hungary von Miltenberger‐Miltenyi, G., Szonyi, L., Balogh, L., Utermann, G., Janecke, A. R.

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Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function von Lacbawan, F, Solomon, B D, Roessler, E, El-Jaick, K, Domené, S, Vélez, J I, Zhou, N, Hadley, D, Balog, J Z, Long, R, Fryer, A, Smith, W, Omar, S, McLean, S D, Clarkson, K, Lichty, A, Clegg, N J, Delgado, M R, Levey, E, Stashinko, E, Potocki, L, VanAllen, M I, Clayton-Smith, J, Donnai, D, Bianchi, D W, Juliusson, P B, Njølstad, P R, Brunner, H G, Carey, J C, Hehr, U, Müsebeck, J, Wieacker, P F, Postra, A, Hennekam, R C M, van den Boogaard, M-J H, van Haeringen, A, Paulussen, A, Herbergs, J, Schrander-Stumpel, C T R M, Janecke, A R, Chitayat, D, Hahn, J, McDonald-McGinn, D M, Zackai, E H, Dobyns, W B, Muenke, M

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Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsate... von Haberlandt, Edda, Löffler, Judith, Hirst-Stadlmann, Almut, Stöckl, Bernd, Judmaier, Werner, Fischer, Helmut, Heinz-Erian, Peter, Müller, Thomas, Utermann, Gerd, Smith, Richard J H, Janecke, Andreas R

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Ocular manifestations of keratitis– ichthyosis–deafness (KID) syndrome von Messmer, E.M., Kenyon, K.R., Rittinger, O., Janecke, A.R., Kampik, A.

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De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss von JANECKE, Andreas R, NEKAHM, Doris, LÖFFLER, Judith, HIRST-STADLMANN, Almut, MÜLLER, Thomas, UTERMANN, Gerd

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Molecular diagnosis of type 1c glycogen storage disease von JANECKE, A. R, BOSSHARD, N. U, MAYATEPEK, E, SCHULZE, A, GITZELMANN, R, BURCHELL, A, BARTRAM, C. R, JANSSEN, B

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Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations -phenotypic spectrum and frequencies of GJB2 mutations in Austria von JANECKE, Andreas R, HIRST-STADLMANN, Almut, GÜNTHER, Barbara, UTERMANN, Barbara, MÜLLER, Thomas, LÖFFLER, Judith, UTERMANN, Gerd, NEKAHM-HEIS, Doris

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Sensorineural hearing loss and the incidence of Cx26 mutations in Austria von Löffler, J, Nekahm, D, Hirst-Stadlmann, A, Günther, B, Menzel, H J, Utermann, G, Janecke, A R

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High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia von Nik-Zainal, Serena, Strick, Reiner, Storer, Mekayla, Huang, Ni, Rad, Roland, Willatt, Lionel, Fitzgerald, Tomas, Martin, Vicki, Sandford, Richard, Carter, Nigel P, Janecke, Andreas R, Renner, Stefan P, Oppelt, Patricia G, Oppelt, Peter, Schulze, Christine, Brucker, Sara, Hurles, Matthew, Beckmann, Matthias W, Strissel, Pamela L, Shaw-Smith, Charles

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Increased energy expenditure and fecal fat excretion do not impair weight gain in small-for-gestational-age preterm infants von Böhler, Thomas, Krämer, Thomas, Janecke, Andreas R, Hoffmann, Georg Friedrich, Linderkamp, Otwin

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Molecular Genetics of Type 1 Glycogen Storage Disease von Janecke, Andreas R., Mayatepek, Ertan, Utermann, Gerd

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Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity von Janecke, Andreas R., Meins, Moritz, Sadeghi, Mojy, Grundmann, Kathrin, Apfelstedt-Sylla, Eckart, Zrenner, Eberhart, Rosenberg, Thomas, Gal, Andreas

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Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy von Janecke, Andreas R, Thompson, Debra A, Utermann, Gerd, Becker, Christian, Hübner, Christian A, Schmid, Eduard, McHenry, Christina L, Nair, Anita R, Rüschendorf, Franz, Heckenlively, John, Wissinger, Bernd, Nürnberg, Peter, Gal, Andreas

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Mutation analysis in glycogen storage disease type 1 non-a von JANECKE, Andreas R, LINDNER, Martin, ERDEL, Martin, MAYATEPEK, Ertan, MÖSLINGER, Dorothea, PODSKARBI, Teodor, FRESSER, Friedrich, STÖCKLER-IPSIROGLU, Silvia, HOFFMANN, Georg F, UTERMANN, Gerd

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P842 Aberrant lipid metabolism in patients with DGAT1 deficiency von van Rijn, J M, Ardy, R C, Kansu, A, Härter, B, van Haaften–Visser, D Y, Ng, M, Kuloğlu, Z, Başaran, M K, Ozcay, F, van der Doef, H, Coffer, P J, Müller, T, Houwen, R H, van Haaften, G, Janecke, A R, Middendorp, S, Boztug, K

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