Research ExplorerResearch UnitsCenter for Obstetrics and Pediatrics Publications

Center for Obstetrics and Pediatrics

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Publications

  1. 2019

  2. The ocular phenotype in primary hyperoxaluria type 1

    Birtel, J., Herrmann, P., Garrelfs, S. F., Dulz, S., Atiskova, Y., Diederen, R. M., Gliem, M., Brinkert, F., Holz, F. G., Boon, C. J. F., Hoppe, B. & Issa, P. C., 10.2019, In: AM J OPHTHALMOL. 206, p. 184-191 8 p.

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

  3. Analyzing expression and phosphorylation of the EGF receptor in HNSCC

    Kriegs, M., Clauditz, T. S., Hoffer, K., Bartels, J., Buhs, S., Gerull, H., Zech, H. B., Bußmann, L., Struve, N., Rieckmann, T., Petersen, C., Betz, C. S., Rothkamm, K., Nollau, P. & Münscher, A., 19.09.2019, In: SCI REP-UK. 9, 1, p. 13564

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

  4. Multiplexed protein force spectroscopy reveals equilibrium protein folding dynamics and the low-force response of von Willebrand factor

    Löf, A., Walker, P. U., Sedlak, S. M., Gruber, S., Obser, T., Brehm, M. A., Benoit, M. & Lipfert, J., 17.09.2019, In: P NATL ACAD SCI USA. 116, 38, p. 18798-18807 10 p.

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

  5. Machine learning analysis of DNA methylation profiles distinguishes primary lung squamous cell carcinomas from head and neck metastases

    Jurmeister, P., Bockmayr, M., Seegerer, P., Bockmayr, T., Treue, D., Montavon, G., Vollbrecht, C., Arnold, A., Teichmann, D., Bressem, K., Schüller, U., von Laffert, M., Müller, K-R., Capper, D. & Klauschen, F., 11.09.2019, In: SCI TRANSL MED. 11, 509

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

  6. B-Flow Sonography for Evaluation of Basal Cerebral Arteries in Newborns

    Groth, M., Ernst, M., Deindl, P. & Herrmann, J., 05.09.2019, In: CLIN NEURORADIOL. 2019, 1

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

  7. Effects of Antenatal Betamethasone on Fetal Doppler Indices and Short Term Fetal Heart Rate Variation in Early Growth Restricted Fetuses

    TRUFFLE Group & Diemert, A., 02.09.2019, In: ULTRASCHALL MED.

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

  8. Outcome of Infants Younger Than 1 Year With Acute Lymphoblastic Leukemia Treated With the Interfant-06 Protocol: Results From an International Phase III Randomized Study

    Pieters, R., De Lorenzo, P., Ancliffe, P., Aversa, L. A., Brethon, B., Biondi, A., Campbell, M., Escherich, G., Ferster, A., Gardner, R. A., Kotecha, R. S., Lausen, B., Li, C. K., Locatelli, F., Attarbaschi, A., Peters, C., Rubnitz, J. E., Silverman, L. B., Stary, J., Szczepanski, T., Vora, A., Schrappe, M. & Valsecchi, M. G., 01.09.2019, In: J CLIN ONCOL. 37, 25, p. 2246-2256 11 p.

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

  9. Effect of renal denervation procedure on left ventricular mass, myocardial strain and diastolic function by CMR on a 12-month follow-up

    Tahir, E., Koops, A., Warncke, M. L., Starekova, J., Neumann, J. T., Waldeyer, C., Avanesov, M., Lund, G. K., Fischer, R., Adam, G., Blankenberg, S., Wenzel, U. O. & Brunner, F. J., 09.2019, In: JPN J RADIOL. 37, 9, p. 642-650 9 p.

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

  10. Human MLL/KMT2A gene exhibits a second breakpoint cluster region for recurrent MLL-USP2 fusions

    Meyer, C., Lopes, B. A., Caye-Eude, A., Cavé, H., Arfeuille, C., Cuccuini, W., Sutton, R., Venn, N. C., Oh, S. H., Tsaur, G., Escherich, G., Feuchtinger, T., Kosasih, H. J., Khaw, S. L., Ekert, P. G., Pombo-de-Oliveira, M. S., Bidet, A., Djahanschiri, B., Ebersberger, I., Zaliova, M., Zuna, J., Zermanova, Z., Juvonen, V., Grümayer, R. P., Fazio, G., Cazzaniga, G., Larghero, P., Emerenciano, M. & Marschalek, R., 09.2019, In: LEUKEMIA. 33, 9, p. 2306-2340 35 p.

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

  11. Immunologic Profiling of Mutational and Transcriptional Subgroups in Pediatric and Adult High-Grade Gliomas

    Bockmayr, M., Klauschen, F., Maire, C. L., Rutkowski, S., Westphal, M., Lamszus, K., Schüller, U. & Mohme, M., 09.2019, In: CANCER IMMUNOL RES. 7, 9, p. 1401-1411 11 p.

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

  12. "Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay

    Jahic, A., Günther, S., Muschol, N., Fossøy Stadheim, B., Braaten, Ø., Kjensli Hyldebrandt, H., Kuiper, G-A., Tylee, K., Wijburg, F. A. & Beetz, C., 09.2019, In: MOL GENET GENOM MED. 7, 9, p. e00615

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

  13. Newly Diagnosed Metastatic Intracranial Ependymoma in Children: Frequency, Molecular Characteristics, Treatment, and Outcome in the Prospective HIT Series

    Benesch, M., Mynarek, M., Witt, H., Warmuth-Metz, M., Pietsch, T., Bison, B., Pfister, S. M., Pajtler, K. W., Kool, M., Schüller, U., Pietschmann, K., Juhnke, B-O., Tippelt, S., Fleischhack, G., Schmid, I., Kramm, C. M., Vorwerk, P., Beilken, A., Classen, C. F., Hernáiz Driever, P., Kropshofer, G., Imschweiler, T., Lemmer, A., Kortmann, R-D., Rutkowski, S. & von Hoff, K., 09.2019, In: ONCOLOGIST. 24, 9, p. e921-e929

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

  14. The mnemonic code of pregnancy: Comparative analyses of pregnancy success and complication risk in first and second human pregnancies

    Thiele, K., Ahrendt, L. S., Hecher, K. & Arck, P. C., 09.2019, In: J REPROD IMMUNOL. 2019, p. 11-20 10 p.

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

  15. de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation

    Schneeberger, P. E., Bierhals, T., Neu, A., Hempel, M. & Kutsche, K., 29.08.2019, In: SCI REP-UK. 9, 1, p. 12516

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

  16. Immature O-glycans recognized by the macrophage glycoreceptor CLEC10A (MGL) are induced by 4-hydroxy-tamoxifen, oxidative stress and DNA-damage in breast cancer cells

    Kurze, A-K., Buhs, S., Eggert, D., Oliveira-Ferrer, L., Müller, V., Niendorf, A., Wagener, C. & Nollau, P., 27.08.2019, In: CELL COMMUN SIGNAL. 17, 1, p. 107

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

  17. Pegvaliase: Immunological profile and recommendations for the clinical management of hypersensitivity reactions in patients with phenylketonuria treated with this enzyme substitution therapy

    Hausmann, O., Daha, M., Longo, N., Knol, E., Müller, I., Northrup, H. & Brockow, K., 04.08.2019, In: MOL GENET METAB. 128, 1-2, p. 84-91 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  18. Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

    Knaus, A., Kortüm, F., Kleefstra, T., Stray-Pedersen, A., Đukić, D., Murakami, Y., Gerstner, T., van Bokhoven, H., Iqbal, Z., Horn, D., Kinoshita, T., Hempel, M. & Krawitz, P. M., 01.08.2019, In: AM J HUM GENET. 105, 2, p. 395-402 8 p.

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

  19. Paralog Studies Augment Gene Discovery: DDX and DHX Genes

    Paine, I., Posey, J. E., Grochowski, C. M., Jhangiani, S. N., Rosenheck, S., Kleyner, R., Marmorale, T., Yoon, M., Wang, K., Robison, R., Cappuccio, G., Pinelli, M., Magli, A., Coban Akdemir, Z., Hui, J., Yeung, W. L., Wong, B. K. Y., Ortega, L., Bekheirnia, M. R., Bierhals, T., Hempel, M., Johannsen, J., Santer, R., Aktas, D., Alikasifoglu, M., Bozdogan, S., Aydin, H., Karaca, E., Bayram, Y., Ityel, H., Dorschner, M., White, J. J., Wilichowski, E., Wortmann, S. B., Casella, E. B., Kitajima, J. P., Kok, F., Monteiro, F., Muzny, D. M., Bamshad, M., Gibbs, R. A., Sutton, V. R., University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program, Van Esch, H., Brunetti-Pierri, N., Hildebrandt, F., Brautbar, A., Van den Veyver, I. B., Glass, I., Lessel, D., Lyon, G. J. & Lupski, J. R., 01.08.2019, In: AM J HUM GENET. 105, 2, p. 302-316 15 p.

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

  20. Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

    Andersen, P. M., Nordström, U., Tsiakas, K., Johannsen, J., Volk, A. E., Bierhals, T., Zetterström, P., Marklund, S. L., Hempel, M. & Santer, R., 01.08.2019, In: NEW ENGL J MED. 381, 5, p. 486-488 3 p.

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

  21. Achieving orphan designation for placental insufficiency: annual incidence estimations in Europe

    Spencer, R., Rossi, C., Lees, M., Peebles, D., Brocklehurst, P., Martin, J., Hansson, S. R., Hecher, K., Marsal, K., Figueras, F., Gratacos, E., David, A. L. & EVERREST Consortium, 08.2019, In: BJOG-INT J OBSTET GY. 126, 9, p. 1157-1167 11 p.

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

  22. Allogeneic hematopoietic stem cell transplantation from unrelated donors is associated with higher infection rates in children with acute lymphoblastic leukemia-A prospective international multicenter trial on behalf of the BFM-SG and the EBMT-PDWP

    Pichler, H., Lawitschka, A., Glogova, E., Willasch, A. M., von Luettichau, I., Lehrnbecher, T., Matthes-Martin, S., Lang, P., Bader, P., Sykora, K. W., Schrum, J., Kremens, B., Ehlert, K., Albert, M. H., Kuhlen, M., Meisel, R., Guengoer, T., Strahm, B., Gruhn, B., Schulz, A., Woessmann, W., Poetschger, U. & Peters, C., 08.2019, In: AM J HEMATOL. 94, 8, p. 880-890 11 p.

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

  23. Fetal dynamic phase-contrast MR angiography using ultrasound gating and comparison with Doppler ultrasound measurements

    Schoennagel, B. P., Yamamura, J., Kording, F., Fischer, R., Bannas, P., Adam, G., Kooijman, H., Ruprecht, C., Fehrs, K. & Tavares de Sousa, M., 08.2019, In: EUR RADIOL. 29, 8, p. 4169-4176 8 p.

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

  24. Glucocorticoid receptors α and β are modulated sex specifically in human placentas of intrauterine growth restriction (IUGR)

    Hutter, S., Hepp, P., Hofmann, S., Kuhn, C., Messner, J., Andergassen, U., Mayr, D., Emilia Solano, M., Obermeier, V., Mahner, S., Arck, P. & Jeschke, U., 08.2019, In: ARCH GYNECOL OBSTET. 300, 2, p. 323-335 13 p.

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

  25. High sensitivity and clonal stability of the genomic fusion as single marker for response monitoring in ETV6-RUNX1-positive acute lymphoblastic leukemia

    Hoffmann, J., Krumbholz, M., Gutiérrez, H. P., Fillies, M., Szymansky, A., Bleckmann, K., Zur Stadt, U., Köhler, R., Kuiper, R. P., Horstmann, M., von Stackelberg, A., Eckert, C. & Metzler, M., 08.2019, In: PEDIATR BLOOD CANCER. 66, 8, p. e27780

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

  26. Immunhistochemische Analyse von Bcl-2, nukleärem S100A4, MITF und Ki67 zur Risikostratifizierung von Melanomen im Frühstadium - ein kombinierter immunhistochemischer Score

    Jurmeister, P., Bockmayr, M., Treese, C., Stein, U., Lenze, D., Jöhrens, K., Friedling, F., Dietel, M., Klauschen, F., Marsch, W., Fiedler, E. & von Laffert, M., 08.2019, In: J DTSCH DERMATOL GES. 17, 8, p. 800-809 10 p.

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

  27. Immunohistochemical analysis of Bcl-2, nuclear S100A4, MITF and Ki67 for risk stratification of early-stage melanoma - A combined IHC score for melanoma risk stratification

    Jurmeister, P., Bockmayr, M., Treese, C., Stein, U., Lenze, D., Jöhrens, K., Friedling, F., Dietel, M., Klauschen, F., Marsch, W., Fiedler, E. & von Laffert, M., 08.2019, In: J DTSCH DERMATOL GES. 17, 8, p. 800-808 9 p.

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

  28. Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

    Renner, S., Schüler, H., Alawi, M., Kolbe, V., Rybczynski, M., Woitschach, R., Sheikhzadeh, S., Stark, V. C., Olfe, J., Roser, E., Seggewies, F. S., Mahlmann, A., Hempel, M., Hartmann, M. J., Hillebrand, M., Wieczorek, D., Volk, A. E., Kloth, K., Koch-Hogrebe, M., Abou Jamra, R., Mitter, D., Altmüller, J., Wey-Fabrizius, A., Petersen, C., Rau, I., Borck, G., Kubisch, C., Mir, T. S., von Kodolitsch, Y., Kutsche, K. & Rosenberger, G., 08.2019, In: GENET MED. 21, 8, p. 1832-1841 10 p.

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

  29. PAX5 biallelic genomic alterations define a novel subgroup of B-cell precursor acute lymphoblastic leukemia

    Bastian, L., Schroeder, M. P., Eckert, C., Schlee, C., Tanchez, J. O., Kämpf, S., Wagner, D. L., Schulze, V., Isaakidis, K., Lázaro-Navarro, J., Hänzelmann, S., James, A. R., Ekici, A., Burmeister, T., Schwartz, S., Schrappe, M., Horstmann, M., Vosberg, S., Krebs, S., Blum, H., Hecht, J., Greif, P. A., Rieger, M. A., Brüggemann, M., Gökbuget, N., Neumann, M. & Baldus, C. D., 08.2019, In: LEUKEMIA. 33, 8, p. 1895-1909 15 p.

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

  30. Second-generation molecular subgrouping of medulloblastoma: an international meta-analysis of Group 3 and Group 4 subtypes

    Sharma, T., Schwalbe, E. C., Williamson, D., Sill, M., Hovestadt, V., Mynarek, M., Rutkowski, S., Robinson, G. W., Gajjar, A., Cavalli, F., Ramaswamy, V., Taylor, M. D., Lindsey, J. C., Hill, R. M., Jäger, N., Korshunov, A., Hicks, D., Bailey, S., Kool, M., Chavez, L., Northcott, P. A., Pfister, S. M. & Clifford, S. C., 08.2019, In: ACTA NEUROPATHOL. 138, 2, p. 309-326 18 p.

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

  31. Zufallsbefund: Milchiges Blut bei einem jungen Säugling

    Kohl, A. P., Blohm, M. E., Schmitt, C. & Singer, D., 08.2019, In: Z GEBURTSH NEONATOL. 223, 4, p. 249-250 2 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research

  32. Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data

    Trefz, K. F., Muntau, A. C., Kohlscheen, K. M., Altevers, J., Jacob, C., Braun, S., Greiner, W., Jha, A., Jain, M., Alvarez, I., Lane, P., Schröder, C. & Rutsch, F., 22.07.2019, In: ORPHANET J RARE DIS. 14, 1, p. 181

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

  33. Hereditary Syndromes with Signs of Premature Aging

    Lessel, D. & Kubisch, C., 22.07.2019, In: DTSCH ARZTEBL INT. 116, 29-30, p. 489-496 8 p.

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

  34. SPRTN protease and checkpoint kinase 1 cross-activation loop safeguards DNA replication

    Halder, S., Torrecilla, I., Burkhalter, M. D., Popović, M., Fielden, J., Vaz, B., Oehler, J., Pilger, D., Lessel, D., Wiseman, K., Singh, A. N., Vendrell, I., Fischer, R., Philipp, M. & Ramadan, K., 17.07.2019, In: NAT COMMUN. 10, 1, p. 3142

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

  35. Food authentication: Multi-elemental analysis of white asparagus for provenance discrimination

    Richter, B., Gurk, S., Wagner, D., Bockmayr, M. & Fischer, M., 15.07.2019, In: FOOD CHEM. 286, p. 475-482

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

  36. Psychometric properties of the German version of the pregnancy-related anxiety questionnaire-revised 2 (PRAQ-R2) in the third trimester of pregnancy

    Mudra, S., Göbel, A., Barthel, D., Hecher, K., Schulte-Markwort, M., Goletzke, J., Arck, P. & Diemert, A., 11.07.2019, In: BMC PREGNANCY CHILDB. 19, 1, p. 242

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

  37. Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data

    Shapiro, E., Lourenço, C. M., Mungan, N. O., Muschol, N., O'Neill, C. & Vijayaraghavan, S., 08.07.2019, In: ORPHANET J RARE DIS. 14, 1, p. 168

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

  38. In Reply - Exomesequencing in children

    Hempel, M., 08.07.2019, In: DTSCH ARZTEBL INT. 116, 27-28, p. 487

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

  39. Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects

    Filatova, A., Rey, L. K., Lechler, M. B., Schaper, J., Hempel, M., Posmyk, R., Szczaluba, K., Santen, G. W. E., Wieczorek, D. & Nuber, U. A., 04.07.2019, In: NAT COMMUN. 10, 1, p. 2966

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

  40. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

    Pehlivan, D., Bayram, Y., Gunes, N., Coban Akdemir, Z., Shukla, A., Bierhals, T., Tabakci, B., Sahin, Y., Gezdirici, A., Fatih, J. M., Gulec, E. Y., Yesil, G., Punetha, J., Ocak, Z., Grochowski, C. M., Karaca, E., Albayrak, H. M., Radhakrishnan, P., Erdem, H. B., Sahin, I., Yildirim, T., Bayhan, I. A., Bursali, A., Elmas, M., Yuksel, Z., Ozdemir, O., Silan, F., Yildiz, O., Yesilbas, O., Isikay, S., Balta, B., Gu, S., Jhangiani, S. N., Doddapaneni, H., Hu, J., Muzny, D. M., Baylor Hopkins Center for Mendelian Genomics, Boerwinkle, E., Gibbs, R. A., Tsiakas, K., Hempel, M., Girisha, K. M., Gul, D., Posey, J. E., Elcioglu, N. H., Tuysuz, B. & Lupski, J. R., 03.07.2019, In: AM J HUM GENET. 105, 1, p. 132-150 19 p.

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

  41. Sex-specific regulation of stress-induced fetal glucocorticoid surge by the mouse placenta

    Wieczorek, A., Perani, C. V., Nixon, M., Constancia, M., Sandovici, I., Zazara, D. E., Leone, G., Zhang, M-Z., Arck, P. C. & Solano, M. E., 01.07.2019, In: AM J PHYSIOL-ENDOC M. 317, 1, p. E109-E120

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

  42. 16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome

    Kloth, K., Renner, S., Burmester, G., Steinemann, D., Pabst, B., Lorenz, B., Simon, R., Kolbe, V., Hempel, M. & Rosenberger, G., 07.2019, In: CLIN GENET. 96, 1, p. 85-90 6 p.

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

  43. Alteration in GPIIb/IIIa Binding of VWD-Associated von Willebrand Factor Variants with C-Terminal Missense Mutations

    König, G., Obser, T., Marggraf, O., Schneppenheim, S., Budde, U., Schneppenheim, R. & Brehm, M. A., 07.2019, In: THROMB HAEMOSTASIS. 119, 7, p. 1102-1111 10 p.

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

  44. Clostridium difficile infection after pediatric solid organ transplantation: a practical single-center experience

    Breuer, C., Döring, S., Rohde, H., Rutkowski, S., Müller, I. & Oh, J., 07.2019, In: PEDIATR NEPHROL. 34, 7, p. 1269-1275 7 p.

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

  45. Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease

    Stumpf, S. K., Berghoff, S. A., Trevisiol, A., Spieth, L., Düking, T., Schneider, L. V., Schlaphoff, L., Dreha-Kulaczewski, S., Bley, A., Burfeind, D., Kusch, K., Mitkovski, M., Ruhwedel, T., Guder, P., Röhse, H., Denecke, J., Gärtner, J., Möbius, W., Nave, K-A. & Saher, G., 07.2019, In: ACTA NEUROPATHOL. 138, 1, p. 147-161 15 p.

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

  46. Low levels of urinary epidermal growth factor predict chronic kidney disease progression in children

    Azukaitis, K., Ju, W., Kirchner, M., Nair, V., Smith, M., Fang, Z., Thurn-Valsassina, D., Bayazit, A., Niemirska, A., Canpolat, N., Bulut, I. K., Yalcinkaya, F., Paripovic, D., Harambat, J., Cakar, N., Alpay, H., Lugani, F., Mencarelli, F., Civilibal, M., Erdogan, H., Gellermann, J., Vidal, E., Tabel, Y., Gimpel, C., Ertan, P., Yavascan, O., Melk, A., Querfeld, U., Wühl, E., Kretzler, M., Schaefer, F., 4C Study & ESCAPE Trial Group, 07.2019, In: KIDNEY INT. 96, 1, p. 214-221 8 p.

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

  47. Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus

    Himmelreich, N., Dimitrov, B., Geiger, V., Zielonka, M., Hutter, A-M., Beedgen, L., Hüllen, A., Breuer, M., Peters, V., Thiemann, K-C., Hoffmann, G. F., Sinning, I., Dupré, T., Vuillaumier-Barrot, S., Barrey, C., Denecke, J., Kölfen, W., Düker, G., Ganschow, R., Lentze, M. J., Moore, S., Seta, N., Ziegler, A. & Thiel, C., 07.2019, In: HUM MUTAT. 40, 7, p. 938-951 14 p.

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

  48. Reducing Hematologic Toxicity With Short Course Postexposure Prophylaxis With Zidovudine for HIV-1 Exposed Infants With Low Transmission Risk

    Nguyen, T. T. T., Kobbe, R., Schulze-Sturm, U., Blohm, M., Hollwitz, B., Hertling, S., Becker, C., Oommen, P. T., Laws, H-J., Martignoni, F., Ole Jensen, B-E., Olah, K., Schmidtke, S., Kreuels, B., Vasconcelos, M. K. & Neubert, J., 07.2019, In: PEDIATR INFECT DIS J. 38, 7, p. 727-730 4 p.

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

  49. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta and type III gamma: Update on GNPTAB and GNPTG mutations

    Velho, R. V., Harms, F. L., Danyukova, T., Ludwig, N. F., Friez, M. J., Cathey, S. S., Filocamo, M., Tappino, B., Güneş, N., Tüysüz, B., Tylee, K. L., Brammeier, K. L., Heptinstall, L., Oussoren, E., van der Ploeg, A. T., Petersen, C., Alves, S., Saavedra, G. D., Schwartz, I. V., Muschol, N., Kutsche, K. & Pohl, S., 07.2019, In: HUM MUTAT. 40, 7, p. 842-864 23 p.

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

  50. Update on twin-to-twin transfusion syndrome

    Bamberg, C. & Hecher, K., 07.2019, In: Best practice & research. Clinical obstetrics & gynaecology. 58, p. 55-65 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  51. Levamisole in Children with Idiopathic Nephrotic Syndrome: Clinical Efficacy and Pathophysiological Aspects

    Mühlig, A. K., Lee, J. Y., Kemper, M. J., Kronbichler, A., Yang, J. W., Lee, J. M., Shin, J. I. & Oh, J., 16.06.2019, In: J CLIN MED. 8, 6

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

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