Research ExplorerResearch UnitsCenter for Obstetrics and Pediatrics Publications

Center for Obstetrics and Pediatrics

2151 - 2200 out of 4,516Page size: 50

Publications

  1. 2015

  2. Monitoring of Minimal Residual Disease After Allogeneic Stem-Cell Transplantation in Relapsed Childhood Acute Lymphoblastic Leukemia Allows for the Identification of Impending Relapse: Results of the ALL-BFM-SCT 2003 Trial

    Bader, P., Kreyenberg, H., von Stackelberg, A., Eckert, C., Salzmann-Manrique, E., Meisel, R., Poetschger, U., Stachel, D., Schrappe, M., Alten, J., Schrauder, A., Schulz, A., Lang, P., Müller, I., Albert, M. H., Willasch, A. M., Klingebiel, T. E. & Peters, C., 10.04.2015, In: J CLIN ONCOL. 33, 11, p. 1275 - 84

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  3. Stem-cell transplantation in children with acute lymphoblastic leukemia: A prospective international multicenter trial comparing sibling donors with matched unrelated donors-The ALL-SCT-BFM-2003 trial

    Peters, C., Schrappe, M., von Stackelberg, A., Schrauder, A., Bader, P., Ebell, W., Lang, P., Sykora, K-W., Schrum, J., Kremens, B., Ehlert, K., Albert, M. H., Meisel, R., Matthes-Martin, S., Gungor, T., Holter, W., Strahm, B., Gruhn, B., Schulz, A., Woessmann, W., Poetschger, U., Zimmermann, M. & Klingebiel, T., 10.04.2015, In: J CLIN ONCOL. 33, 11, p. 1265-74 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  4. Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome

    van Rahden, V. A., Fernandez-Vizarra, E., Alawi, M., Brand, K., Fellmann, F., Horn, D., Zeviani, M. & Kutsche, K., 02.04.2015, In: AM J HUM GENET. 96, 4, p. 640-50 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  5. Babies Galore; or recent findings and future perspectives of pregnancy cohorts with a focus on immunity

    Hartwig, I., Diemert, A., Tolosa, E., Hecher, K. & Arck, P., 01.04.2015, In: J REPROD IMMUNOL. 108, p. 6-11 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  6. Editorial 2

    Diemert, A., 01.04.2015, In: Z GEBURTSH NEONATOL. 219, 2, p. 61

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Transfer

  7. Progesterone and HMOX-1 promote fetal growth by CD8+ T cell modulation

    Solano, M. E., Kowal, M. K., O'Rourke, G. E., Horst, A. K., Modest, K., Plösch, T., Barikbin, R., Remus, C. C., Berger, R. G., Jago, C., Ho, H., Sass, G., Parker, V. J., Lydon, J. P., DeMayo, F. J., Hecher, K., Karimi, K. & Arck, P. C., 01.04.2015, In: J CLIN INVEST. 125, 4, p. 1726-38 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  8. Successful detoxification and liver transplantation in a severe poisoning with a chemical wood preservative containing chromium, copper, and arsenic

    Breuer, C., Oh, J., Nolkemper, D., Achilles, E. G., Fischer, L., Eglite, I., Güsmer, C., Heitland, P., Koester, H. D., Brinkert, F., Singer, D. & Blohm, M., 01.04.2015, In: TRANSPLANTATION. 99, 4, p. e29-30

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  9. The expression of CD39 on regulatory T cells is genetically driven and further upregulated at sites of inflammation

    Rissiek, A., Baumann, I., Cuapio, A., Mautner, A., Kolster, M., Arck, P. C., Dodge-Khatami, A., Mittrücker, H-W., Nolte, F., Haag, F. & Tolosa, E., 01.04.2015, In: J AUTOIMMUN. 58, p. 12-20 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  10. Brainstem disconnection: two additional patients and expansion of the phenotype

    Poretti, A., Denecke, J., Miller, D. C., Schiffmann, H., Buhk, J. H., Grange, D. K., Doherty, D. & Boltshauser, E., 04.2015, In: NEUROPEDIATRICS. 46, 2, p. 139-44 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  11. Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome

    Wortmann, S. B., van Hasselt, P. M., Barić, I., Burlina, A., Darin, N., Hörster, F., Coker, M., Ucar, S. K., Krumina, Z., Naess, K., Ngu, L. H., Pronicka, E., Riordan, G., Santer, R., Wassmer, E., Zschocke, J., Schiff, M., de Meirleir, L., Alowain, M. A., Smeitink, J. A. M., Morava, E., Kozicz, T., Wevers, R. A., Wolf, N. I. & Willemsen, M. A., 04.2015, In: NEUROPEDIATRICS. 46, 2, p. 98-103 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  12. Maternal microchimerism: lessons learned from murine models.

    Stelzer, I., Thiele, K. & Solano, M. E., 04.2015, In: J REPROD IMMUNOL. 108, SI, p. 12-25

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  13. Midterm Outcome of Transumbilically Laparoscopic-Assisted Versus Laparoscopic and Open Appendectomy in Children-A Matched Prospective Study

    Bergholz, R., Klein, I., Wenke, K., Boettcher, M., Reinshagen, K. & Krebs, T., 04.2015, In: EUR J PEDIATR SURG. 25, 2, p. 216-219

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  14. Psychische Belastungen von Kindern und Jugendlichen nach einer Leukämie oder Lymphomerkrankung

    Sautier, L., Sarkar, S., Petersen, M., Mehnert, A. & Escherich, G., 04.2015, In: PRAX KINDERPSYCHOL K. 64, 4, p. 273-289

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  15. Radiosensitization of NSCLC cells by EGFR inhibition is the result of an enhanced p53-dependent G1 arrest

    Kriegs, M., Gurtner, K., Can, Y., Brammer, I., Rieckmann, T., Oertel, R., Wysocki, M., Dorniok, F., Gal, A., Grob, T. J., Laban, S., Kasten-Pisula, U., Petersen, C., Baumann, M., Krause, M. & Dikomey, E., 04.2015, In: RADIOTHER ONCOL. 115, 1, p. 120-7 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  16. Spectrum of Steroid-Resistant and Congenital Nephrotic Syndrome in Children: The PodoNet Registry Cohort

    Trautmann, A., Bodria, M., Ozaltin, F., Gheisari, A., Melk, A., Azocar, M., Anarat, A., Caliskan, S., Emma, F., Gellermann, J., Oh, J., Baskin, E., Ksiazek, J., Remuzzi, G., Erdogan, O., Akman, S., Dusek, J., Davitaia, T., Özkaya, O., Papachristou, F., Firszt-Adamczyk, A., Urasinski, T., Testa, S., Krmar, R. T., Hyla-Klekot, L., Pasini, A., Özcakar, Z. B., Sallay, P., Cakar, N., Galanti, M., Terzic, J., Aoun, B., Caldas Afonso, A., Szymanik-Grzelak, H., Lipska, B. S., Schnaidt, S., Schaefer, F. & PodoNet Consortium, 04.2015, In: CLIN J AM SOC NEPHRO. 10, 4, p. 592-600 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  17. Spezifische Symptomkombination der chronischen Quecksilberintoxikation: Arterielle Hypertension, Entwicklungsregression und Automutilation

    Hermann, K., Varwig-Janßen, D., Budnik, L. T., Nordholt, G., Reinshagen, K., Oh, J., Santer, R. & Mühlhausen, C., 04.2015, In: MONATSSCHR KINDERH. 163, 6, p. 570-574

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  18. Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling

    Trefz, F., Lichtenberger, O., Blau, N., Muntau, A. C., Feillet, F., Bélanger-Quintana, A., van Spronsen, F. & Munafo, A., 04.2015, In: MOL GENET METAB. 114, 4, p. 564-9 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  19. Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site

    Velho, R. V., De Pace, R., Klünder, S., Sperb-Ludwig, F., Lourenço, C. M., Schwartz, I. V. D., Braulke, T. & Pohl, S., 18.03.2015, In: HUM MOL GENET. 24, 12, p. 3497–3505

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  20. Lrp1/LDL receptor play critical roles in mannose 6-phosphate-independent lysosomal enzyme targeting

    Markmann, S., Thelen, M., Cornils, K., Schweizer, M., Brocke-Ahmadinejad, N., Willnow, T., Heeren, J., Gieselmann, V., Braulke, T. & Kollmann, K., 18.03.2015, In: TRAFFIC.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  21. Ethical issues with artificial nutrition of children with degenerative brain diseases

    Kohlschütter, A., Riga, C., Crespo, D., Torres, J. M., Penchaszadeh, V. & Schulz, A., 17.03.2015, In: BBA-MOL BASIS DIS. 1852, 7, p. 1253-1256 4 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  22. Ocular signs correlate well with disease severity and genotype in Fabry disease

    Pitz, S., Kalkum, G., Arash, L., Karabul, N., Sodi, A., Larroque, S., Beck, M. & Gal, A., 17.03.2015, In: PLOS ONE. 10, 3, p. Art. e0120814

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  23. The golgi-associated PDZ domain protein PIST/GOPC stabilizes the β1-adrenergic receptor in intracellular compartments after internalization

    Koliwer, J., Park, M., Bauch, C., von Zastrow, M. & Kreienkamp, H-J., 06.03.2015, In: J BIOL CHEM. 290, 10, p. 6120-9 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  24. Automatisierte OP-Leuchtenjustierung mittels 3D-Motion-Tracking

    Böttcher, M., 05.03.2015, Patent No. DE102013014078A1, 05.03.2015, Priority date 27.08.2013, Priority No. DE201310014078

    Research output: Patent

  25. A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate

    Reiter, R., Brosch, S., Goebel, I., Ludwig, K. U., Pickhard, A., Högel, J., Schlömer, G., Mangold, E., Kubisch, C. & Borck, G., 03.2015, In: AM J MED GENET A. 167, 3, p. 670-3 4 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  26. Automatic differentiation of placental perfusion compartments by time-to-peak analysis in mice

    Kording, F., Forkert, N. D., Sedlacik, J., Adam, G., Hecher, K., Arck, P. & Remus, C. C., 03.2015, In: PLACENTA. 36, 3, p. 255-61 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  27. Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria

    Danecka, M. K., Woidy, M., Zschocke, J., Feillet, F., Muntau, A. C. & Gersting, S. W., 03.2015, In: J MED GENET. 52, 3, p. 175-185 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  28. Primitive neuroectodermal tumors of the brainstem in children treated according to the HIT Trials: clinical findings of a rare disease

    Friedrich, C., Warmuth-Metz, M., von Bueren, A. O., Nowak, J., Bison, B., von Hoff, K., Pietsch, T., Kortmann, R. D. & Rutkowski, S., 03.2015, In: J NEUROSURG-PEDIATR. 15, 3, p. 227-35 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  29. Severe neurotoxicity following intrathecal methotrexate with nitrous oxide sedation in a child with acute lymphoblastic leukemia

    Löbel, U., Trah, J. & Escherich, G., 03.2015, In: PEDIATR BLOOD CANCER. 62, 3, p. 539-41 3 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  30. Long-Term Clinical Relevance of De Novo Donor-Specific Antibodies After Pediatric Liver Transplantation

    Grabhorn, E., Binder, T. M., Obrecht, D., Brinkert, F., Lehnhardt, A., Herden, U., Peine, S., Nashan, B., Ganschow, R. & Briem-Richter, A., 20.02.2015, In: TRANSPLANTATION. 99, 9, p. 1876-1881

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  31. Hippocampal synaptic connectivity in phenylketonuria

    Horling, K., Schlegel, G., Schulz, S., Vierk, R., Ullrich, K., Santer, R. & Rune, G., 15.02.2015, In: HUM MOL GENET. 4, 24, p. 1007-1018

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  32. Reversible small bowel obstruction in the chicken foetus

    von Sochaczewski, C. O., Wenke, K., Metzger, R. P., Loveland, J. A., Westgarth-Taylor, C. & Kluth, D., 11.02.2015, In: Afr J Paediatr Surg. 12, 1, p. 12-7 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  33. Markers of bone metabolism are affected by renal function and growth hormone therapy in children with chronic kidney disease

    Doyon, A., Fischer, D-C., Bayazit, A. K., Canpolat, N., Duzova, A., Sözeri, B., Bacchetta, J., Balat, A., Büscher, A., Candan, C., Cakar, N., Donmez, O., Dusek, J., Heckel, M., Klaus, G., Mir, S., Özcelik, G., Sever, L., Shroff, R., Vidal, E., Wühl, E., Gondan, M., Melk, A., Querfeld, U., Haffner, D., Schaefer, F. & 4C Study Consortium, 06.02.2015, In: PLOS ONE. 10, 2, p. Art. e0113482

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  34. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

    Wortmann, S. B., Ziętkiewicz, S., Kousi, M., Szklarczyk, R., Haack, T. B., Gersting, S. W., Muntau, A. C., Rakovic, A., Renkema, G. H., Rodenburg, R. J., Strom, T. M., Meitinger, T., Rubio-Gozalbo, M. E., Chrusciel, E., Distelmaier, F., Golzio, C., Jansen, J. H., van Karnebeek, C., Lillquist, Y., Lücke, T., Õunap, K., Zordania, R., Yaplito-Lee, J., van Bokhoven, H., Spelbrink, J. N., Vaz, F. M., Pras-Raves, M., Ploski, R., Pronicka, E., Klein, C., Willemsen, M. A. A. P., de Brouwer, A. P. M., Prokisch, H., Katsanis, N. & Wevers, R. A., 05.02.2015, In: AM J HUM GENET. 96, 2, p. 245-57 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  35. A novel mechanism of bacterial toxin transfer within host blood cell-derived microvesicles

    Ståhl, A., Arvidsson, I., Johansson, K. E., Chromek, M., Rebetz, J., Loos, S., Kristoffersson, A-C., Békássy, Z. D., Mörgelin, M. & Karpman, D., 02.2015, In: PLOS PATHOG. 11, 2, p. e1004619

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  36. BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

    Borck, G., Hög, F., Dentici, M. L., Tan, P. L., Sowada, N., Medeira, A., Gueneau, L., Thiele, H., Kousi, M., Lepri, F., Wenzeck, L., Blumenthal, I., Radicioni, A., Schwarzenberg, T. L., Mandriani, B., Fischetto, R., Morris-Rosendahl, D. J., Altmüller, J., Reymond, A., Nürnberg, P., Merla, G., Dallapiccola, B., Katsanis, N., Cramer, P. & Kubisch, C., 02.2015, In: GENOME RES. 25, 2, p. 155-66 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  37. Frühgeborene an der Grenze der Lebensfähigkeit. Gemeinsame Empfehlung der Deutschen Gesellschaft für Gynäkologie und Geburtshilfe, Deutschen Gesellschaft für Kinder- und Jugendmedizin, Deutschen Gesellschaft für Perinatale Medizin, Akademie für Ethik in der Medizin, Gesellschaft für Neonatologie und Pädiatrische Intensivmedizin unter Mitwirkung des Deutschen Hebammenverbandes und des Bundesverbandes "Das frühgeborene Kind"

    Bührer, C., Felderhoff-Müser, U., Kribs, A., Roll, C., Völkner, A., Gembruch, U., Hecher, K., Kainer, F., Maier, R. F., Vetter, K., Krones, T., Lipp, V., Steppat, S. & Wirthl, H-J., 02.2015, In: Z GEBURTSH NEONATOL. 219, 1, p. 12-19 8 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Transfer

  38. High-resolution genomic analysis does not qualify atypical plexus papilloma as a separate entity among choroid plexus tumors

    Japp, A. S., Gessi, M., Messing-Jünger, M., Denkhaus, D., Zur Mühlen, A., Wolff, J. E., Hartung, S., Kordes, U., Klein-Hitpass, L. & Pietsch, T., 02.2015, In: J NEUROPATH EXP NEUR. 74, 2, p. 110-20 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  39. Molecular stratification of medulloblastoma: Comparison of histological and genetic methods to detect Wnt activated tumors

    Goschzik, T., Zur Mühlen, A., Kristiansen, G., Haberler, C., Stefanits, H., Friedrich, C., von Hoff, K., Rutkowski, S., Pfister, S. M. & Pietsch, T., 02.2015, In: NEUROPATH APPL NEURO. 41, 2, p. 135-144

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  40. Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial

    Hendriksz, C. J., Giugliani, R., Harmatz, P., Mengel, E., Guffon, N., Valayannopoulos, V., Parini, R., Hughes, D., Pastores, G. M., Lau, H. A., Al-Sayed, M. D., Raiman, J., Yang, K., Mealiffe, M., Haller, C. & STRIVE Investigators, 02.2015, In: MOL GENET METAB. 114, 2, p. 178-85 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  41. Near-normal values of extravascular lung water in children

    Nusmeier, A., Cecchetti, C., Blohm, M., Lehman, R., van der Hoeven, J. & Lemson, J., 02.2015, In: PEDIATR CRIT CARE ME. 16, 2, p. E28-E33

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  42. High B-cell activating factor is not associated with worse 3-year graft outcome in blood group-incompatible kidney transplantation with rituximab induction

    Lehnhardt, A. M., Strecker, M., Eiermann, T., Marget, M., Thaiss, F., Nashan, B. & Koch, M., 27.01.2015, In: CLIN TRANSPLANT.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  43. Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions

    Otomo, T., Schweizer, M., Kollmann, K., Schumacher, V., Muschol, N., Tolosa, E., Mittrücker, H-W. & Braulke, T., 19.01.2015, In: J CELL BIOL. 208, 2, p. 171-80 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  44. Risk of Rotavirus Vaccination for Children with SCID

    Klinkenberg, D., Blohm, M., Hoehne, M., Mas Marques, A., Malecki, M., Schildgen, V., Schneppenheim, R., Müller, I., Schildgen, O. & Kobbe, R., 01.01.2015, In: PEDIATR INFECT DIS J. 34, 1, p. 114-5 2 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  45. An instructional video enhanced bag-mask ventilation quality during simulated newborn resuscitation

    Deindl, P., Schwindt, J., Berger, A. & Schmölzer, G. M., 01.2015, In: ACTA PAEDIATR. 104, 1, p. E20-E26 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  46. A novel role for microphthalmia-associated transcription factor-regulated pigment epithelium-derived factor during melanoma progression

    Dadras, S. S., Lin, R. J., Razavi, G., Kawakami, A., Du, J., Feige, E., Milner, D. A., Loda, M. F., Granter, S. R., Detmar, M., Widlund, H. R., Horstmann, M. A. & Fisher, D. E., 01.2015, In: AM J PATHOL. 185, 1, p. 252-65 14 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  47. Defective removal of ribonucleotides from DNA promotes systemic autoimmunity

    Günther, C., Kind, B., Reijns, M. A. M., Berndt, N., Martinez-Bueno, M., Wolf, C., Tüngler, V., Chara, O., Lee, Y. A., Hübner, N., Bicknell, L., Blum, S., Krug, C., Schmidt, F., Kretschmer, S., Koss, S., Astell, K. R., Ramantani, G., Bauerfeind, A., Morris, D. L., Cunninghame Graham, D. S., Bubeck, D., Leitch, A., Ralston, S. H., Blackburn, E. A., Gahr, M., Witte, T., Vyse, T. J., Melchers, I., Mangold, E., Nöthen, M. M., Aringer, M., Kuhn, A., Lüthke, K., Unger, L., Bley, A., Lorenzi, A., Isaacs, J. D., Alexopoulou, D., Conrad, K., Dahl, A., Roers, A., Alarcon-Riquelme, M. E., Jackson, A. P. & Lee-Kirsch, M. A., 01.2015, In: J CLIN INVEST. 125, 1, p. 413-424 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  48. Management of adult patients with phenylketonuria: survey results from 24 countries

    Trefz, F. K., van Spronsen, F. J., MacDonald, A., Feillet, F., Muntau, A. C., Belanger-Quintana, A., Burlina, A., Demirkol, M., Giovannini, M. & Gasteyger, C., 01.2015, In: EUR J PEDIATR. 174, 1, p. 119-127 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  49. Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia

    Esmaeilzadeh, H., Bemanian, M. H., Nabavi, M., Arshi, S., Fallahpour, M., Fuchs, I., Zur Stadt, U., Warnatz, K., Ammann, S., Ehl, S., Lehmberg, K. & Rezaei, N., 01.2015, In: J CLIN IMMUNOL. 35, 1, p. 22-25

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  50. STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

    Kakar, N., Ahmad, J., Morris-Rosendahl, D. J., Altmüller, J., Friedrich, K., Barbi, G., Nürnberg, P., Kubisch, C., Dobyns, W. B. & Borck, G., 01.2015, In: HUM GENET. 134, 1, p. 45-51 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  51. 8p deletion is strongly linked to poor prognosis in breast cancer

    Lebok, P., Mittenzwei, A., Kluth, M., Özden, C., Taskin, B., Hussein, K., Möller, K., Hartmann, A., Lebeau, A., Witzel, I., Mahner, S., Wölber, L., Jänicke, F., Geist, S., Paluchowski, P., Wilke, C., Heilenkötter, U., Simon, R., Sauter, G., Terracciano, L., Krech, R., von der Assen, A., Müller, V. & Burandt, E., 2015, In: CANCER BIOL THER. 16, 7, p. 1080-7 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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