Research ExplorerResearch UnitsDepartment of Pediatrics Publications

Department of Pediatrics

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Publications

  1. 2020

  2. Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients

    Staufner, C., Peters, B., Wagner, M., Alameer, S., Barić, I., Broué, P., Bulut, D., Church, J. A., Crushell, E., Dalgıç, B., Das, A. M., Dick, A., Dikow, N., Dionisi-Vici, C., Distelmaier, F., Bozbulut, N. E., Feillet, F., Gonzales, E., Hadzic, N., Hauck, F., Hegarty, R., Hempel, M., Herget, T., Klein, C., Konstantopoulou, V., Kopajtich, R., Kuster, A., Laass, M. W., Lainka, E., Larson-Nath, C., Leibner, A., Lurz, E., Mayr, J. A., McKiernan, P., Mention, K., Moog, U., Mungan, N. O., Riedhammer, K. M., Santer, R., Palafoll, I. V., Vockley, J., Westphal, D. S., Wiedemann, A., Wortmann, S. B., Diwan, G. D., Russell, R. B., Prokisch, H., Garbade, S. F., Kölker, S., Hoffmann, G. F. & Lenz, D., 03.2020, In: GENET MED. 22, 3, p. 610-621 12 p.

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

  3. Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

    Bauwens, M., Storch, S., Weisschuh, N., Ceuterick-de Groote, C., De Rycke, R., Brecht, G., Sarah, D. J., Coppieters, F., Van Coster, R., Leroy, B. P. & De Baere, E., 03.2020, In: CLIN GENET. 97, 3, p. 426-436 11 p.

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

  4. Review on long-term non-renal complications of childhood nephrotic syndrome

    Lee, J. M., Kronbichler, A., Shin, J. I. & Oh, J., 03.2020, In: ACTA PAEDIATR. 109, 3, p. 460-470 11 p.

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

  5. Sex and age as determinants for high blood pressure in pediatric renal transplant recipients: a longitudinal analysis of the CERTAIN Registry

    Sugianto, R. I., Schmidt, B. M. W., Memaran, N., Duzova, A., Topaloglu, R., Seeman, T., König, S., Dello Strologo, L., Murer, L., Özçakar, Z. B., Bald, M., Shenoy, M., Buescher, A., Hoyer, P. F., Pohl, M., Billing, H., Oh, J., Staude, H., Pohl, M., Genc, G., Klaus, G., Alparslan, C., Grenda, R., Rubik, J., Krupka, K., Tönshoff, B., Wühl, E. & Melk, A., 03.2020, In: PEDIATR NEPHROL. 35, 3, p. 415-426 12 p.

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

  6. Diagnosis and Care of Infants and Children with Pompe Disease

    Hahn, A., Hennermann, J. B., Huemer, M., Kampmann, C., Marquardt, T., Mengel, E., Müller-Felber, W., Muschol, N. M., Rohrbach, M. & Stehling, F., 18.02.2020, In: KLIN PADIATR. 232, 02, p. 55-61 7 p.

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

  7. Clinical Interventions and All-Cause Mortality of Patients with Chronic Kidney Disease: An Umbrella Systematic Review of Meta-Analyses

    Kim, J. Y., Steingroever, J., Lee, K. H., Oh, J., Choi, M. J., Lee, J., Larkins, N. G., Schaefer, F., Hong, S. H., Jeong, G. H., Shin, J. I. & Kronbichler, A., 01.02.2020, In: J CLIN MED. 9, 2

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

  8. Airway management and perioperative adverse events in children with mucopolysaccharidoses and mucolipidoses: a retrospective cohort study

    Dohrmann, T., Muschol, N. M., Sehner, S., Punke, M. A., Haas, S. A., Roeher, K., Breyer, S., Koehn, A. F., Ullrich, K., Zöllner, C. & Petzoldt, M., 02.2020, In: PEDIATR ANESTH. 30, 2, p. 181-190 10 p.

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

  9. Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination

    Chelban, V., Alsagob, M., Kloth, K., Chirita-Emandi, A., Vandrovcova, J., Maroofian, R., Davagnanam, I., Bakhtiari, S., AlSayed, M. D., Rahbeeni, Z., AlZaidan, H., Malintan, N. T., Johannsen, J., Efthymiou, S., Ghayoor Karimiani, E., Mankad, K., Al-Shahrani, S. A., Beiraghi Toosi, M., AlShammari, M., Groppa, S., Haridy, N. A., AlQuait, L., Qari, A., Huma, R., Salih, M. A., Almass, R., Almutairi, F. B., Hamad, M. H., Alorainy, I. A., Ramzan, K., Imtiaz, F., Puiu, M., Kruer, M. C., Bierhals, T., Wood, N. W., Colak, D., Houlden, H. & Kaya, N., 02.2020, In: EUR J NEUROL. 27, 2, p. 334-342 9 p.

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

  10. Große Nabelschnurzyste bei persistierendem Urachus

    Blohm, M., Wenke, K., Müller, F., Glosemeyer, P., Boettcher, M. & Singer, D., 02.2020, In: Z GEBURTSH NEONATOL. 224, 1, p. 42-43 2 p.

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

  11. Interleukin-6 elevation in healthy neonates

    Ebenebe, C. U., Boiger, A., Perez, A., Mathies, F. L., Hecher, K. & Singer, D., 02.2020, In: J PERINATOL. 40, 2, p. 294-298 5 p.

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

  12. Sucking patterns are not predictive of further feeding development in healthy preterm infants

    Hübl, N., Costa, S. P. D., Kaufmann, N., Oh, J. & Willmes, K., 02.2020, In: INFANT BEHAV DEV. 58, p. 101412

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

  13. Markers of NETosis Do Not Predict Neonatal Early Onset Sepsis: A Pilot Study

    Stiel, C. U., Ebenebe, C. U., Trochimiuk, M., Pagarols Raluy, L., Vincent, D., Singer, D., Reinshagen, K. & Boettcher, M., 14.01.2020, In: FRONT PEDIATR. 7, 555.

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

  14. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

    Mak, C. C. Y., Doherty, D., Lin, A. E., Vegas, N., Cho, M. T., Viot, G., Dimartino, C., Weisfeld-Adams, J. D., Lessel, D., Joss, S., Li, C., Gonzaga-Jauregui, C., Zarate, Y. A., Ehmke, N., Horn, D., Troyer, C., Kant, S. G., Lee, Y., Ishak, G. E., Leung, G., Barone Pritchard, A., Yang, S., Bend, E. G., Filippini, F., Roadhouse, C., Lebrun, N., Mehaffey, M. G., Martin, P-M., Apple, B., Millan, F., Puk, O., Hoffer, M. J. V., Henderson, L. B., McGowan, R., Wentzensen, I. M., Pei, S., Zahir, F. R., Yu, M., Gibson, W. T., Seman, A., Steeves, M., Murrell, J. R., Luettgen, S., Francisco, E., Strom, T. M., Amlie-Wolf, L., Kaindl, A. M., Wilson, W. G., Halbach, S., Basel-Salmon, L., Lev-El, N., Denecke, J., Vissers, L. E. L. M., Radtke, K., Chelly, J., Zackai, E., Friedman, J. M., Bamshad, M. J., Nickerson, D. A., University of Washington Center for Mendelian Genomics, Reid, R. R., Devriendt, K., Chae, J-H., Stolerman, E., McDougall, C., Powis, Z., Bienvenu, T., Tan, T. Y., Orenstein, N., Dobyns, W. B., Shieh, J. T., Choi, M., Waggoner, D., Gripp, K. W., Parker, M. J., Stoler, J., Lyonnet, S., Cormier-Daire, V., Viskochil, D., Hoffman, T. L., Amiel, J., Chung, B. H. Y. & Gordon, C. T., 01.01.2020, In: BRAIN. 143, 1, p. 55-68 14 p.

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

  15. Infantile Hepatic Hemangioma: Avoiding Unnecessary Invasive Procedures

    Ernst, L., Grabhorn, E., Brinkert, F., Reinshagen, K., Königs, I. & Trah, J., 01.2020, In: PEDIATR GASTROENTERO. 23, 1, p. 72-78 7 p.

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

  16. Muscle phenotype of AGAT- and GAMT-deficient mice after simvastatin exposure

    Sasani, A., Hornig, S., Grzybowski, R., Cordts, K., Hanff, E., Tsikas, D., Böger, R., Gerloff, C., Isbrandt, D., Neu, A., Schwedhelm, E. & Choe, C-U., 01.2020, In: AMINO ACIDS. 52, 1, p. 73-85 13 p.

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

  17. Das Mikrodeletionssyndrom 20q11–q12: Fallbericht über ein seltenes, aber rekurrentes Mikrodeletionssyndrom

    Weiss, D., Kortüm, F., Driemeyer, J. & Kloth, K., 2020, In: MONATSSCHR KINDERH.

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

  18. First Recognized Patient with Genetic Vitamin E Deficiency Stable after 36 Years of Controlled Supplement Therapy

    Kohlschütter, A., Finckh, B., Nickel, M., Bley, A. & Hübner, C., 2020, In: NEURODEGENER DIS. 20, 1, p. 35-38 4 p.

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

  19. Forensische Pädopathologie: Verhungert an der Mutterbrust

    Deindl, P. & Püschel, K., 2020, In: päd Praktische Pädiatrie. p. 198-203

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

  20. Increased Regulatory T Cells Precede the Development of Bronchopulmonary Dysplasia in Preterm Infants

    Pagel, J., Twisselmann, N., Rausch, T. K., Waschina, S., Hartz, A., Steinbeis, M., Olbertz, J., Nagel, K., Steinmetz, A., Faust, K., Demmert, M., Göpel, W., Herting, E., Rupp, J. & Härtel, C., 2020, In: FRONT IMMUNOL. 11, p. 565257

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

  21. Indoor Climate and Air Quality in a Neonatal Intensive Care Unit

    Wolf, M., Diehl, T., Zanni, S., Singer, D. & Deindl, P., 2020, In: NEONATOLOGY. 117, 4, p. 453-459 7 p.

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

  22. Lost in Transition: Health Care Experiences of Adults Born Very Preterm - A Qualitative Approach

    Perez, A., Thiede, L., Lüdecke, D., Ebenebe, C. U., von dem Knesebeck, O. & Singer, D., 2020, In: FRONT PUBLIC HEALTH. 8, p. 605149

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

  23. Podocytes Produce and Secrete Functional Complement C3 and Complement Factor H

    Mühlig, A. K., Keir, L. S., Abt, J. C., Heidelbach, H. S., Horton, R., Welsh, G. I., Meyer-Schwesinger, C., Licht, C., Coward, R. J., Fester, L., Saleem, M. A. & Oh, J., 2020, In: FRONT IMMUNOL. 11, p. 1833

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

  24. Serum indoxyl sulfate concentrations associate with progression of chronic kidney disease in children

    Holle, J., Kirchner, M., Okun, J., Bayazit, A. K., Obrycki, L., Canpolat, N., Bulut, I. K., Azukaitis, K., Duzova, A., Ranchin, B., Shroff, R., Candan, C., Oh, J., Klaus, G., Lugani, F., Gimpel, C., Büscher, R., Yilmaz, A., Baskin, E., Erdogan, H., Zaloszyc, A., Özcelik, G., Drozdz, D., Jankauskiene, A., Nobili, F., Melk, A., Querfeld, U., Schaefer, F. & 4C Study Consortium, 2020, In: PLOS ONE. 15, 10, p. e0240446

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

  25. Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1

    Pechmann, A., Baumann, M., Bernert, G., Flotats-Bastardas, M., Gruber-Sedlmayr, U., von der Hagen, M., Hasselmann, O., Hobbiebrunken, E., Horber, V., Johannsen, J., Kellersmann, A., Köhler, C., von Moers, A., Müller-Felber, W., Plecko, B., Reihle, C., Schlachter, K., Schreiber, G., Schwartz, O., Smitka, M., Steiner, E., Stoltenburg, C., Stüve, B., Theophil, M., Weiß, C., Wiegand, G., Wilichowski, E., Winter, B., Wittmann, W., Schara, U. & Kirschner, J., 2020, In: J NEUROMUSCULAR DIS. 7, 1, p. 41-46 6 p.

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

  26. What is the right temperature for a neonate?

    Singer, D., van der Meer, F. & Perez, A., 2020, Innovations and frontiers in neonatology: Innovations and frontiers in neonatology. Herting, E. & Kiess, W. (eds.). Basel: Karger, p. 95-111 17 p. (Pediatr Adolesc Med; vol. 22).

    Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review

  27. 2019

  28. Retinal hyperreflective foci in Fabry disease

    Atiskova, Y., Rassuli, R., Koehn, A. F., Golsari, A., Wagenfeld, L., du Moulin, M., Muschol, N. & Dulz, S., 26.12.2019, In: ORPHANET J RARE DIS. 14, 1, p. 296

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

  29. Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

    Johannesen, K. M., Mitter, D., Janowski, R., Roth, C., Toulouse, J., Poulat, A-L., Ville, D. M., Chatron, N., Brilstra, E., Geleijns, K., Born, A. P., McLean, S., Nugent, K., Baynam, G., Poulton, C., Dreyer, L., Gration, D., Schulz, S., Dieckmann, A., Helbig, K. L., Merkenschlager, A., Jamra, R., Finck, A., Gardella, E., Hjalgrim, H., Mirzaa, G., Brancati, F., Bierhals, T., Denecke, J., Hempel, M., Lemke, J. R., Rubboli, G., Muschke, P., Guerrini, R., Vetro, A., Niessing, D., Lesca, G. & Møller, R. S., 12.2019, In: NEUROL-GENET. 5, 6, p. e373

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

  30. Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant

    Johannsen, J., Bierhals, T., Deindl, P., Hecher, L., Hermann, K., Hempel, M., Kloth, K. & Denecke, J., 12.2019, In: J PEDIATR GENET. 8, 4, p. 222-225 4 p.

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

  31. Obstructive sleep apnea and craniofacial appearance in MPS type I-Hurler children after hematopoietic stem cell transplantation

    Koehne, T., Müller-Stöver, S., Köhn, A., Stumpfe, K., Lezius, S., Schmid, C., Lukacs, Z., Kahl-Nieke, B. & Muschol, N., 12.2019, In: SLEEP BREATH. 23, 4, p. 1315-1321 7 p.

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

  32. Oxalate retinopathy is irreversible despite early combined liver-kidney transplantation in primary hyperoxaluria type 1

    Atiskova, Y., Dulz, S., Schmäschke, K., Oh, J., Grabhorn, E., Kemper, M. J. & Brinkert, F., 12.2019, In: AM J TRANSPLANT. 19, 12, p. 3328-3334 7 p.

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

  33. Pain and Sedation Scales for Neonatal and Pediatric Patients in a Preverbal Stage of Development: A Systematic Review

    Giordano, V., Edobor, J., Deindl, P., Wildner, B., Goeral, K., Steinbauer, P., Werther, T., Berger, A. & Olischar, M., 12.2019, In: JAMA PEDIATR.

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

  34. The CLN3 gene and protein: What we know

    Mirza, M., Vainshtein, A., DiRonza, A., Chandrachud, U., Haslett, L. J., Palmieri, M., Storch, S., Groh, J., Dobzinski, N., Napolitano, G., Schmidtke, C. & Kerkovich, D. M., 12.2019, In: MOL GENET GENOM MED. 7, 12, p. e859

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

  35. Zinkmangel als Ursache eines „Dekubitus“ beim Frühgeborenen?

    Asselborn, J. R., Thayssen, M., Lehmberg, K., Apostolidou, S. & Singer, D., 12.2019, In: Z GEBURTSH NEONATOL. 223, 6, p. 369-372 4 p.

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

  36. Monitoring intra-abdominal pressure after liver transplantation in children

    Deindl, P., Wagner, J., Herden, U., Schulz-Jürgensen, S., Schild, R., Vettorazzi, E., Bergers, M., Keck, M., Singer, D., Fischer, L. & Herrmann, J., 01.11.2019, In: PEDIATR TRANSPLANT. 23, 7, p. e13565

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

  37. Greater Susceptibility for Metabolic Syndrome in Pediatric Solid Organ and Stem Cell Transplant Recipients

    Blöte, R., Memaran, N., Borchert-Mörlins, B., Thurn-Valsassina, D., Goldschmidt, I., Beier, R., Sauer, M., Müller, C., Sarganas, G., Oh, J., Büscher, R., Kemper, M. J., Sugianto, R. I., Epping, J., Schmidt, B. M. W. & Melk, A., 11.2019, In: TRANSPLANTATION. 103, 11, p. 2423-2433 11 p.

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

  38. International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people

    Gimpel, C., Bergmann, C., Bockenhauer, D., Breysem, L., Cadnapaphornchai, M. A., Cetiner, M., Dudley, J., Emma, F., Konrad, M., Harris, T., Harris, P. C., König, J., Liebau, M. C., Marlais, M., Mekahli, D., Metcalfe, A. M., Oh, J., Perrone, R. D., Sinha, M. D., Titieni, A., Torra, R., Weber, S., Winyard, P. J. D. & Schaefer, F., 11.2019, In: NAT REV NEPHROL. 15, 11, p. 713-726 14 p.

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

  39. Intravenous Artesunate for Imported Severe Malaria in Children Treated in Four Tertiary Care Centers in Germany: A Retrospective Study

    Bélard, S., Brand, J., Schulze-Sturm, U., Janda, A., von Both, U., Tacoli, C., Alberer, M., Kempf, C., Stegemann, M. S., Krüger, R., Varnholt, V., Blohm, M., Reiter, K., Zoller, T., Suttorp, N., Mall, M., von Bernuth, H., Gratopp, A., Hübner, J., Hufnagel, M., Kobbe, R. & Kurth, F., 11.2019, In: PEDIATR INFECT DIS J. 38, 11, p. e295-e300

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

  40. Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

    Gardner, E., Bailey, M., Schulz, A., Aristorena, M., Miller, N. & Mole, S. E., 11.2019, In: HUM MUTAT. 40, 11, p. 1924-1938 15 p.

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

  41. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

    Häberle, J., Burlina, A., Chakrapani, A., Dixon, M., Karall, D., Lindner, M., Mandel, H., Martinelli, D., Pintos-Morell, G., Santer, R., Skouma, A., Servais, A., Tal, G., Rubio, V., Huemer, M. & Dionisi-Vici, C., 11.2019, In: J INHERIT METAB DIS. 42, 6, p. 1192-1230 39 p.

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

  42. Shiga toxin signals via ATP and its effect is blocked by purinergic receptor antagonism

    Johansson, K. E., Ståhl, A-L., Arvidsson, I., Loos, S., Tontanahal, A., Rebetz, J., Chromek, M., Kristoffersson, A-C., Johannes, L. & Karpman, D., 07.10.2019, In: SCI REP-UK. 9, 1, p. 14362

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

  43. Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype

    Atiskova, Y., Bartsch, S., Danyukova, T., Becker, E., Hagel, C., Storch, S. & Bartsch, U., 02.10.2019, In: SCI REP-UK. 9, 1, p. 14185

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

  44. Correction to 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., 10.2019, In: ACTA NEUROPATHOL. 138, 4, p. 673-674 2 p.

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

  45. Diagnosis, Therapy and Follow-up of Vaginal Cancer and Its Precursors. Guideline of the DGGG and the DKG (S2k-Level, AWMF Registry No. 032/042, October 2018)

    Schnürch, H-G., Ackermann, S., Alt-Radtke, C. D., Angleitner, L., Barinoff, J., Beckmann, M. W., Böing, C., Dannecker, C., Fehm, T., Gaase, R., Gass, P., Gebhardt, M., Gieseking, F., Günthert, A., Hack, C. C., Hantschmann, P., Horn, L. C., Koch, M. C., Letsch, A., Mallmann, P., Mangold, B., Marnitz, S., Mehlhorn, G., Paradies, K., Reinhardt, M. J., Tholen, R., Torsten, U., Weikel, W., Wölber, L. & Hampl, M., 10.2019, In: GEBURTSH FRAUENHEILK. 79, 10, p. 1060-1078 19 p.

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

  46. Impact of refugee influx on the epidemiology of late-presenting HIV-infected pregnant women and mother-to-child transmission: comparing a southern and northern medical centre in Germany

    Singer, K., Schulze-Sturm, U., Alba-Alejandre, I., Hollwitz, B., Nguyen, T. T. T., Sollinger, F., Eberle, J., Hübner, J., Kobbe, R., Genzel-Boroviczény, O. & von Both, U., 10.2019, In: INFECTION. 47, 5, p. 847-852 6 p.

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

  47. Impact on the hepatic flow velocity after pediatric combined liver-kidney transplantation compared to isolated pediatric liver transplantation-A matched-pair analysis

    Hellenkemper, J. V., Grabhorn, E., Brinkert, F., Lenhartz, H., Herrmann, J., Fischer, L., Helmke, K. & Herden, U., 10.2019, In: CLIN TRANSPLANT. 33, 10, p. e13687

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

  48. 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

  49. 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

  50. "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

  51. 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

  52. 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

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