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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LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development von Gong, Yaoqin, Slee, Roger B., Fukai, Naomi, Rawadi, Georges, Roman-Roman, Sergio, Reginato, Anthony M., Wang, Hongwei, Cundy, Tim, Glorieux, Francis H., Lev, Dorit, Zacharin, Margaret, Oexle, Konrad, Marcelino, Jose, Suwairi, Wafaa, Heeger, Shauna, Sabatakos, George, Apte, Suneel, Adkins, William N., Allgrove, Jeremy, Arslan-Kirchner, Mine, Batch, Jennifer A., Beighton, Peter, Black, Graeme C.M., Boles, Richard G., Boon, Laurence M., Borrone, Carla, Brunner, Han G., Carle, Georges F., Dallapiccola, Bruno, De Paepe, Anne, Floege, Barbara, Halfhide, Melissa Lees, Hall, Bryan, Hennekam, Raoul C., Hirose, Tatsuo, Jans, Ab, Jüppner, Harald, Kim, Chong Ae, Keppler-Noreuil, Kim, Kohlschuetter, Alfried, LaCombe, Didier, Lambert, Marie, Lemyre, Emmanuelle, Letteboer, Tom, Peltonen, Leena, Ramesar, Rajkumar S., Romanengo, Marta, Somer, Hannu, Steichen-Gersdorf, Elisabeth, Steinmann, Beat, Sullivan, Beth, Superti-Furga, Andrea, Swoboda, Walter, van den Boogaard, Marie-José, Van Hul, Wim, Vikkula, Miikka, Votruba, Marcela, Zabel, Bernhard, Garcia, Teresa, Baron, Roland, Olsen, Bjorn R., Warman, Matthew L.

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Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4 von Steichen-Gersdorf, E, Gaßner, I, Superti-Furga, A, Ullmann, R, Stricker, S, Klopocki, E, Mundlos, S

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The Whole Is Greater Than the Sum of Its Parts: Exploring Attributes of Team Work Engagement Climate von Gersdorf-Van den Berg, Marieke E., Akkermans, Jos, Hoeksema, Ludwig H., Khapova, Svetlana N.

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Need for Long-term Follow-up in Enterohemorrhagic Escherichia coli—Associated Hemolytic Uremic Syndrome Due to Late-Emerging Sequelae von Karch, Helga, Rosales, Alejandra, Hofer, Johannes, Zimmerhackl, Lothar-Bernd, Jungraithmayr, Therese C., Riedl, Magdalena, Giner, Thomas, Strasak, Alexander, Orth-Höller, Dorothea, Würzner, Reinhard, Karch, Helge

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Pädiatrisches adrenokortikales Karzinom – Fallbericht und Überblick: Virilisierung und Hirsutismus bei einem 5-jährigen Mädchen von Griss, D., Weber, U., Tatzreiter, A., Morell-Hofert, D., Steichen-Gersdorf, E.

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Deletion mapping on chromosome 17p in medulloblastoma von Steichen-Gersdorf, E, Baumgartner, M, Kreczy, A, Maier, H, Fink, F-M

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Multilocus Linkage Identifies Two New Loci for a Mendelian Form of Stroke, Cerebral Cavernous Malformation, at 7p15–13 and 3q25.2–27 von Craig, Holly D., Günel, Murat, Cepeda, Obed, Johnson, Eric W., Ptacek, Louis, Steinberg, Gary K., Ogilvy, Christopher S., Berg, Michael J., Crawford, Stephen C., Scott, R. Michael, Steichen-Gersdorf, Elizabeth, Sabroe, Ruth, Kennedy, C. T. C., Mettler, Gabrielle, Beis, M. Jill, Fryer, Alan, Awad, Issam A., Lifton, Richard P.

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Trisomy 18 mosaicism in an adult woman with normal intelligence and history of miscarriage von Gersdorf, E, Utermann, B, Utermann, G

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Persistent hyperplastic primary vitreous in a family with osteoporosis-pseudoglioma syndrome von Steichen-Gersdorf, E, Gassner, I, Unsinn, K, Sperl, W

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Continuous arteriovenous haemofiltration in a neonate with hyperammonaemic coma due to citrullinaemia von Sperl, W., Geiger, R., Maurer, H., Murr, C., Schmoigl, C., Steichen‐Gersdorf, E., Sailer, M.

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A family with visceral course of Niemann‐Pick disease, macular halo syndrome and low sphingomyelin degradation rate von Sperl, W., Bart, G., Vanier, M. T., Christomanou, H., Baldissera, I., Steichen‐Gersdorf, E., Paschke, E.

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Familial cavernous angiomas of the brain : observations in a four generation family von STEICHEN-GERSDORF, E, FELBER, S, FUCHS, W, RUSSEGER, L, TWERDY, K

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Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17) von Steichen-Gersdorf, E, Trawöger, R, Duba, H C, Mayr, U, Felber, S, Utermann, G

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Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: report of a new case with congenital stenosis of the trachea von Steichen-Gersdorf, E, Gassner, I, Covi, B, Fischer, H

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Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21 von Steichen-Gersdorf, E, Gallion, H H, Ford, D, Girodet, C, Easton, D F, DiCioccio, R A, Evans, G, Ponder, M A, Pye, C, Mazoyer, S

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Inadvertent Transmission of a Donor's Acute Myeloid Leukemia in Bone Marrow Transplantation for Chronic Myelocytic Leukemia von Niederwieser, Dietger W, Appelbaum, Frederick R, Gastl, Günther, Gersdorf, Elisabeth, Meister, Bernhard, Geissler, Dietmar, Tratkiewicz, Jeannie A, Thaler, Josef, Huber, Christoph

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Characterisation of X;17(q12;p13) Translocation Breakpoints in a Female Patient with Hypomelanosis of Ito and Choroid Plexus Papilloma von Zajac, Vladimir, Kirchhoff, Tomas, Levy, Elaine R., Horsley, Sharon W., Miller, Andrew, Steichen-Gersdorf, Elisabeth, Monaco, Anthony P.

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Aktueller Stand der Früherkennung von Sehstörungen bei Kindern in Greifswald von Riebeling, P, Brunner, E, Stubbe, U, Gersdorf, E, Clemens, S

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The gene for the Lp(a)-specific glycoprotein is closely linked to the gene for plasminogen on chromosome 6 von LINDAHL, G, GERSDORF, E, MENZEL, H. J, DUBA, C, CLEVE, H, HUMPHRIES, S, UTERMANN, G

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