More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly von Kloth, K., Graul-Neumann, L., Hermann, K., Johannsen, J., Bierhals, T., Kortüm, F.

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Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body von Harms, F.L., Nampoothiri, S., Kortüm, F., Thomas, J., Panicker, V.V., Alawi, M., Altmüller, J., Yesodharan, D., Kutsche, K.

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Branchio-Otic Syndrome Caused by a Genomic Rearrangement: Clinical Findings and Molecular Cytogenetic Studies in a Patient with a Pericentric Inversion of Chromosome 8 von Schmidt, T., Bierhals, T., Kortüm, F., Bartels, I., Liehr, T., Burfeind, P., Shoukier, M., Frank, V., Bergmann, C., Kutsche, K.

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Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies von Knaus, Alexej, Kortüm, Fanny, Kleefstra, Tjitske, Stray-Pedersen, Asbjørg, Đukić, Dejan, Murakami, Yoshiko, Gerstner, Thorsten, van Bokhoven, Hans, Iqbal, Zafar, Horn, Denise, Kinoshita, Taroh, Hempel, Maja, Krawitz, Peter M.

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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis von Kortüm, Fanny, Das, Soma, Flindt, Max, Morris-Rosendahl, Deborah J, Stefanova, Irina, Goldstein, Amy, Horn, Denise, Klopocki, Eva, Kluger, Gerhard, Martin, Peter, Rauch, Anita, Roumer, Agathe, Saitta, Sulagna, Walsh, Laurence E, Wieczorek, Dagmar, Uyanik, Gökhan, Kutsche, Kerstin, Dobyns, William B

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Successful treatment of multicentric Castleman's disease with combined immunochemotherapy in an AIDS patient with multiorgan failure von Schmidt, S M, Raible, A, Kortüm, F, Mayer, F, Riessen, R, Adam, P, Gregor, M, Bissinger, A L

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Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies von Kortüm, F., Chyrek, M., Fuchs, S., Albrecht, B., Gillessen-Kaesbach, G., Mütze, U., Seemanova, E., Tinschert, S., Wieczorek, D., Rosenberger, G., Kutsche, K.

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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype von Shashi, V, Pena, LD, Kim, K, Burton, B, Hempel, M, Schoch, K, Walkiewicz, M, McLaughlin, HM, Cho, M, Stong, N, Hickey, SE, Shuss, CM, Undiagnosed Diseases Network, Freemark, MS, Bellet, JS, Keels, MA, Bonner, MJ, El-Dairi, M, Butler, M, Kranz, PG, Stumpel, CT, Klinkenberg, S, Oberndorff, K, Alawi, M, Santer, R, Petrovski, S, Kuismin, O, Korpi-Heikkilä, S, Pietilainen, O, Aarno, P, Kurki, MI, Hoischen, A, Need, AC, Goldstein, DB, Kortüm, F

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P2.81: Further delineation of FOXG1‐associated encephalopathy von Uyanik, G., Kortüm, F., Das, S., Flindt, M., Morris‐Rosendahl, D.J., Horn, D.

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Interventional pain therapy. Results of a survey among specialized pain physicians in Germany von Kortüm, F C, Bräscher, A-K, Schmitz-Buchholz, D, Feldmann, Jr, R E, Benrath, J

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Exomsequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome: Erfahrungen aus Hamburg, Deutschland von Kortüm, F., Abdollahpour, H., Alawi, M., Korenke, G.C., Seemanova, E., Tinschert, S., Zenker, M., Rosenberger, G., Kutsche, K.

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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis von Kortüm, F, Das, S, Flindt, M, Morris-Rosendahl, D J, Stefanova, I, Goldstein, A, Horn, D, Klopocki, E, Kluger, G, Martin, P, Rauch, A, Roumer, A, Saitta, S, Walsh, L E, Wieczorek, D, Uyanik, G, Kutsche, K, Dobyns, W B

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Exomsequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome von Kortüm, F., Abdollahpour, H., Alawi, M., Korenke, G.C., Seemanova, E., Tinschert, S., Zenker, M., Rosenberger, G., Kutsche, K.

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Interventionelle Schmerztherapie: Ergebnisse einer bundesweiten Umfrage unter speziellen Schmerztherapeuten von Kortüm, F.C., Bräscher, A.-K., Schmitz-Buchholz, D., Feldmann, R.E., Benrath, J.

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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes von Endele, S, Rosenberger, G, Geider, K, Popp, B, Tamer, C, Stefanova, I, Milh, M, Kortüm, F, Fritsch, A, Pientka, F K, Hellenbroich, Y, Kalscheuer, V M, Kohlhase, J, Moog, U, Rappold, G, Rauch, A, Ropers, H H, von Spiczak, S, Tönnies, H, Villeneuve, N, Villard, L, Zabel, B, Zenker, M, Laube, B, Reis, A, Wieczorek, D, Van Maldergem, L, Kutsche, K

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Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders von Langhammer, F, Maroofian, R, Badar, R, Gregor, A, Rochman, M, Ratliff, JB, Koopmans, M, Herget, T, Hempel, M, Kortüm, F, Heron, D, Mignot, C, Keren, B, Brooks, S, Botti, C, Ben-Zeev, B, Argilli, E, Sherr, EH, Gowda, VK, Srinivasan, VM, Bakhtiari, S, Kruer, MC, Salih, MA, Kuechler, A, Muller, EA, Blocker, K, Kuismin, O, Park, KL, Kochhar, A, Brown, K, Ramanathan, S, Clark, RD, Elgizouli, M, Melikishvili, G, Tabatadze, N, Stark, Z, Mirzaa, GM, Ong, J, Grasshoff, U, Bevot, A, von Wintzingerode, L, Jamra, RA, Hennig, Y, Goldenberg, P, Al Alam, C, Charif, M, Boulouiz, R, Bellaoui, M, Amrani, R, Al Mutairi, F, Tamim, AM, Abdulwahab, F, Alkuraya, FS, Khouj, EM, Alvi, JR, Sultan, T, Hashemi, N, Karimiani, EG, Ashrafzadeh, F, Imannezhad, S, Efthymiou, S, Houlden, H, Sticht, H, Zweier, C

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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant von Aerden, M., Denommé-Pichon, A.S., Bonneau, D., Bruel, A.L., Delanne, J., Gérard, B., Mazel, B., Philippe, C., Pinson, L., Prouteau, C., Putoux, A., Mau-Them, F.T., Viora-Dupont, E., Vitobello, A., Ziegler, A., Piton, A., Isidor, B., Francannet, C., Maillard, P.Y., Julia, S., Philippe, A., Schaefer, E., Koene, S., Ruivenkamp, C., Hoffer, M., Legius, E., Theunis, M., Keren, B., Buratti, J., Charles, P., Courtin, T., Misra-Isrie, M., Haelst, M. van, Waisfisz, Q., Wieczorek, D., Schmetz, A., Herget, T., Kortüm, F., Lisfeld, J., Debray, F.G., Bramswig, N.C., Atallah, I., Fodstad, H., Jouret, G., Almoguera, B., Tahsin-Swafiri, S., Santos-Simarro, F., Palomares-Bralo, M., López-González, V., Kibaek, M., Torring, P.M., Renieri, A., Bruno, L.P., Ounap, K., Wojcik, M., Hsieh, T.C., Krawitz, P., Esch, H. van

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder von Rots, D., Jakub, T.E., Keung, C., Banka, S., Pfundt, R., Vries, B.B.A. de, Hopman, S.M.J., Binsbergen, E. van, Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, F., Goldenberg, A., Andersen, C.B., Kibaek, M., Prijoles, E.J., Stevenson, R.E., Everman, D.B., Patterson, W.G., Meng, L.Y., Gijavanekar, C., Dios, K. de, Levy, T., Wagner, M., Wieczorek, D., Benke, P.J., Garcia, M.S.L., Perrier, R., Almeida, P.M., Simoes, M.J., Isidor, B., Deb, W., Schmanski, A.A., Abdul-Rahman, O., Philippe, C., Bruel, A.L., Faivre, L., Vitobello, A., Thauvin, C., Garavelli, L., Caraffi, S.G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L., Sinnema, M., Bosch, D.S.D.L.G.M., Potgieter, S.T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A.G., Freitag, C.M., Satterstrom, F.K., Rubeis, S. de, Gelb, B.D., Branko, A., Kushima, I., Howe, J., Scherer, S.W., Arado, A., Baldo, C., Patat, O., Benedicte, D., Lopergolo, D., Haack, T.B., Bertrand, M., Falb, R.J., Riess, A., Krieg, P., Spranger, S., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M.F., Liebelt, J., Dagli, A.I., Aten, E., Hurst, A.C.E., Hicks, A., Suri, M., Aliu, E., Naik, S., Coursimault, J., Küpper, H., Petit, F., Ibrahim, V., Top, D., Cara, F. di, Louie, R.J., Stolerman, E., Brunner, H.G., Kleefstra, T.

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Exomsequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome: Erfahrungen aus Hamburg, Deutschland von Kortüm, F., Abdollahpour, H., Alawi, M., Korenke, G.C., Seemanova, E., Tinschert, S., Zenker, M., Rosenberger, G., Kutsche, K.

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Impregnation of collagen corneal shields with liposomes: Uptake and release of hydrophilic and lipophilic marker substances von Grammer, Joachim B., Kortüm, Florence A., Wolburg, Hartwig, Lüdtke, Rainer, Schmidt, Karl-Heinz, Thiel, Hans-Jürgen, Pleyer, Uwe

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