Research ExplorerScientific StaffRene Santer Publications

Prof. Dr. ID: 71389

Rene Santer

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  1. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

    Horvath, R., Hudson, G., Ferrari, G., Fütterer, N., Ahola, S., Lamantea, E., Prokisch, H., Lochmüller, H., McFarland, R., Ramesh, V., Klopstock, T., Freisinger, P., Salvi, F., Mayr, J. A., Santer, R., Tesarova, M., Zeman, J., Udd, B., Taylor, R. W., Turnbull, D., Hanna, M., Fialho, D., Suomalainen, A., Zeviani, M. & Chinnery, P. F., 2006, In: BRAIN. 129, 7, p. 1674-1684 7.

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

  2. Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status.

    Kohlschütter, B., Ellerbrok, M., Merkel, M., Tchirikov, M., Zschocke, J., Santer, R. & Ullrich, K., 2009, In: J INHERIT METAB DIS.

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

  3. Phenylketonuria: Direct and indirect effects of phenylalanine

    Schlegel, G., Scholz, R., Ullrich, K., Santer, R. & Rune, G. M., 14.04.2016, In: EXP NEUROL. 281, p. 28-36 9 p.

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

  4. Population screening for medium-chain acyl-CoA dehydrogenase deficiency: analysis of medium-chain fatty acids and acylglycines in blood spots.

    Bennett, M. J., Ragni, M. C., Ostfeld, R. J., Santer, R. & Schmidt-Sommerfeld, E., 1994, In: ANN CLIN BIOCHEM. 31, 1, p. 72-77 1.

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

  5. Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency

    Scharre, S., Posset, R., Garbade, S. F., Gleich, F., Seidl, M. J., Druck, A-C., Okun, J. G., Gropman, A. L., Nagamani, S. C. S., Hoffmann, G. F., Kölker, S., Zielonka, M., Urea Cycle Disorders Consortium (UCDC) & E-IMD consortium, 11.2022, In: ANN CLIN TRANSL NEUR. 9, 11, p. 1715-1726 12 p.

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

  6. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

    van der Ven, A. T., Johannsen, J., Kortüm, F., Wagner, M., Tsiakas, K., Bierhals, T., Lessel, D., Herget, T., Kloth, K., Lisfeld, J., Scholz, T., Obi, N., Wortmann, S., Prokisch, H., Kubisch, C., Denecke, J., Santer, R. & Hempel, M., 12.2021, In: CLIN GENET. 100, 6, p. 766-770 5 p.

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

  7. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

    Maas, R. R., Iwanicka-Pronicka, K., Kalkan Ucar, S., Alhaddad, B., AlSayed, M., Al-Owain, M. A., Al-Zaidan, H. I., Balasubramaniam, S., Barić, I., Bubshait, D. K., Burlina, A., Christodoulou, J., Chung, W. K., Colombo, R., Darin, N., Freisinger, P., Garcia Silva, M. T., Grunewald, S., Haack, T. B., van Hasselt, P. M., Hikmat, O., Hörster, F., Isohanni, P., Ramzan, K., Kovacs-Nagy, R., Krumina, Z., Martin-Hernandez, E., Mayr, J. A., McClean, P., De Meirleir, L., Naess, K., Ngu, L. H., Pajdowska, M., Rahman, S., Riordan, G., Riley, L., Roeben, B., Rutsch, F., Santer, R., Schiff, M., Seders, M., Sequeira, S., Sperl, W., Staufner, C., Synofzik, M., Taylor, R. W., Trubicka, J., Tsiakas, K., Unal, O., Wassmer, E., Wedatilake, Y., Wolff, T., Prokisch, H., Morava, E., Pronicka, E., Wevers, R. A., de Brouwer, A. P. & Wortmann, S. B., 12.2017, In: ANN NEUROL. 82, 6, p. 1004-1015 12 p.

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

  8. Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

    Grünert, S. C., Müllerleile, S., De Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H-G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Sperl, W., Kraus, J. P., Superti-Furga, A., Schwab, K. O. & Sass, J. O., 10.01.2013, In: ORPHANET J RARE DIS. 8, p. 6

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

  9. Propionic acidemia: neonatal versus selective metabolic screening.

    Grünert, S. C., Müllerleile, S., de Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H. G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Sperl, W., Kraus, J. P., Superti-Furga, A., Schwab, K. O. & Sass, J. O., 2012, In: J INHERIT METAB DIS. 35, 1, p. 41-49 1.

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

  10. Quantification of N-acetyl-L-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease

    Posern, C., Dreyer, B., Maier, S. L., Eichler, F., Gelb, M. H., Santer, R., Bley, A. & Murko, S., 03.05.2024, In: MOL GENET METAB. 142, 2, 108489.

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

  11. [Rectum and bladder duplication with malformations of the VACTERL association]

    Santer, R. & Schröder, H., 1987, In: KLIN PADIATR. 199, 2, p. 119-121 2.

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

  12. Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

    Marten, L. M., Brinkert, F., Smith, D. E. C., Prokisch, H., Hempel, M. & Santer, R., 12.2020, In: MOL GENET METAB REP. 25, p. 100681

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

  13. Rektum- und Blasenduplikatur mit Fehlbildungen der VACTERL-Assoziation

    Santer, R. & Schröder, H., 1987, In: KLIN PADIATR. 199, 2, p. 119-21 3 p.

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

  14. Response of exocrine pancreas to corticosterone and aldosterone after adrenalectomy.

    Alliet, P., Lu, R. B., Madrazo de La Garza, J. A., Santer, R., Lebenthal, E. & Lee, P. C., 1989, In: J STEROID BIOCHEM. 33, 6, p. 1097-1102 6.

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

  15. Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

    Dulz, S., Atiskova, Y., Engel, P., Wildner, J., Tsiakas, K. & Santer, R., 02.2021, In: OPHTHALMIC GENET. 42, 1, p. 23-27 5 p.

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

  16. SARS Coronavirus-2 variant tracing within the first Coronavirus Disease 19 clusters in northern Germany

    Pfefferle, S., Günther, T., Kobbe, R., Czech-Sioli, M., Nörz, D., Santer, R., Oh, J., Kluge, S., Oestereich, L., Peldschus, K., Indenbirken, D., Huang, J., Grundhoff, A., Aepfelbacher, M., Knobloch, J. K., Lütgehetmann, M. & Fischer, N., 01.2021, In: CLIN MICROBIOL INFEC. 27, 1, p. 130.e5-130.e8

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

  17. Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis.

    Prietsch, V., Arnold, S., Kraegeloh-Mann, I., Kuehr, J. & Santer, R., 2008, In: NEUROPEDIATRICS. 39, 1, p. 51-54 1.

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

  18. Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control

    Klünder, S., Heeren, J., Markmann, S., Santer, R., Braulke, T. & Pohl, S., 08.2015, In: J LIPID RES. 56, 8, p. 1625-32 8 p.

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

  19. SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

    Park, J. H., Hogrebe, M., Grüneberg, M., DuChesne, I., von der Heiden, A. L., Reunert, J., Schlingmann, K. P., Boycott, K. M., Beaulieu, C. L., Mhanni, A. A., Innes, A. M., Hörtnagel, K., Biskup, S., Gleixner, E. M., Kurlemann, G., Fiedler, B., Omran, H., Rutsch, F., Wada, Y., Tsiakas, K., Santer, R., Nebert, D. W., Rust, S. & Marquardt, T., 03.12.2015, In: AM J HUM GENET. 97, 6, p. 894-903 10 p.

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

  20. SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

    Park, J. H., Hogrebe, M., Fobker, M., Brackmann, R., Fiedler, B., Reunert, J., Rust, S., Tsiakas, K., Santer, R., Grüneberg, M. & Marquardt, T., 27.07.2017, In: GENET MED.

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

  21. 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

  22. Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis.

    Kędzierska, K., Kwiatkowski, S., Torbé, A., Marchelek-Myśliwiec, M., Marcinkiewicz, O., Bobrek-Lesiakowska, K., Gołembiewska, E., Kwiatkowska, E., Rzepka, R., Ciechanowski, K., Czajka, R. & Santer, R., 2011, In: AM J MED GENET A. 155A, 8, p. 2028-2030 8.

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

  23. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

    Carrozzo, R., Dionisi-Vici, C., Steuerwald, U., Lucioli, S., Deodato, F., Sivia, D. G., Bertini, E., Franke, B., Kluijtmans, L. A. J., Meschini, M. C., Rizzo, C., Piemonte, F., Rodenburg, R., Santer, R., Santorelli, F. M., van Rooij, A., Diana, V. K., Morava, E. & Wevers, R. A., 2007, In: BRAIN. 130, 3, p. 862-874 3.

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

  24. Suggested guidelines for the diagnosis and management of urea cycle disorders

    Häberle, J., Boddaert, N., Burlina, A., Chakrapani, A., Dixon, M., Huemer, M., Karall, D., Martinelli, D., Crespo, P. S., Santer, R., Servais, A., Valayannopoulos, V., Lindner, M., Rubio, V. & Dionisi-Vici, C., 01.01.2012, In: ORPHANET J RARE DIS. 7, p. 32

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

  25. 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

  26. Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency.

    Santer, R., Fingerhut, R., Lässker, U., Wightman, P. J., Fitzpatrick, D. R., Olgemöller, B. & Roscher, A. A., 2003, In: CLIN CHEM. 49, 4, p. 660-662 4.

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

  27. Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing.

    Spiekerkoetter, U., Haussmann, U., Mueller, M., Frank, T. V., Stehn, M., Santer, R. & Lukacs, Z., 2010, In: J PEDIATR-US. 157, 4, p. 668-673 4.

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

  28. TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

    Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintrón, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, L., Thies, J., Niyazov, D., Burton, B., Kim, K., Fleming, L., Westman, R., Karachunski, P., Dalton, J., Basinger, A., Ficicioglu, C., Helbig, I., Pendziwiat, M., Muhle, H., Helbig, K. L., Caliebe, A., Santer, R., Becker, K., Suchy, S., Douglas, G., Millan, F., Begtrup, A., Monaghan, K. G. & Mefford, H. C., 03.2019, In: GENET MED. 21, 3, p. 601-607 7 p.

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

  29. Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings.

    Lässker, U., Zschocke, J., Blau, N. & Santer, R., 2002, In: J INHERIT METAB DIS. 25, 1, p. 65-70 1.

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

  30. The boy with massive glucosuria.

    Sarkissian, A., Santer, R., Steinmann, B., Amaryan, G. & Leumann, E., 2004, In: NEPHROL DIAL TRANSPL. 19, 5, p. 1319-1320 5.

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

  31. The first case of domino-split-liver transplantation in maple syrup urine disease

    Herden, U., Li, J., Fischer, L., Brinkert, F., Blohm, M., Santer, R., Nashan, B. & Grabhorn, E., 09.2017, In: PEDIATR TRANSPLANT. 21, 6

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

  32. The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1

    Park, J. H., Nordström, U., Tsiakas, K., Keskin, I., Elpers, C., Mannil, M., Heller, R., Nolan, M., Alburaiky, S., Zetterström, P., Hempel, M., Schara-Schmidt, U., Biskup, S., Steinacker, P., Otto, M., Weishaupt, J., Hahn, A., Santer, R., Marquardt, T., Marklund, S. L. & Andersen, P. M., 2023, In: BRAIN COMMUN. 5, 1, p. fcad017

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

  33. The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.

    Santer, R., Groth, S., Kinner, M., Dombrowski, A., Berry, G. T., Brodehl, J., Leonard, J. V., Moses, S., Norgren, S., Skovby, F., Schneppenheim, R., Steinmann, B. & Schaub, J., 2002, In: HUM GENET. 110, 1, p. 21-29 1.

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

  34. The novel GCK variant p.Val455Leu associated with hyperinsulinism is susceptible to allosteric activation and is conducive to weight gain and the development of diabetes

    Langer, S., Waterstradt, R., Hillebrand, G., Santer, R. & Baltrusch, S., 12.2021, In: DIABETOLOGIA. 64, 12, p. 2687-2700 14 p.

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

  35. The prevalence of the G985 allele of medium-chain acyl-CoA dehydrogenase deficiency among sudden infant death victims and healthy newborns in northern Germany.

    Santer, R., Gregersen, N., Tanaka, K., Hinck-Kneip, C., Krawinkel, M. & Schaub, J., 1995, In: EUR J PEDIATR. 154, 6, p. 497 6.

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

  36. The role of carbohydrate moieties of cholecystokinin receptors in cholecystokinin octapeptide binding: alteration of binding data by specific lectins.

    Santer, R., Leung, Y. K., Alliet, P., Lebenthal, E. & Lee, P. C., 1990, In: BBA-BIOMEMBRANES. 1051, 1, p. 78-83 1.

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

  37. The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

    Santer, R., Rischewski, J., von Weihe, M., Niederhaus, M., Schneppenheim, S., Baerlocher, K., Kohlschütter, A., Muntau, A., Posselt, H-G., Steinmann, B. & Schneppenheim, R., 2005, In: HUM MUTAT. 25, 6, p. 594 6.

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

  38. The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein

    Grünert, S. C., Eckenweiler, M., Haas, D., Lindner, M., Tsiakas, K., Santer, R., Tucci, S. & Spiekerkoetter, U., 07.2021, In: J INHERIT METAB DIS. 44, 4, p. 893-902 10 p.

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

  39. TMEM165 Deficiency: Postnatal Changes in Glycosylation

    Althoff, S. S., Grüneberg, M., Reunert, J., Park, J. H., Rust, S., Mühlhausen, C., Wada, Y., Santer, R. & Marquardt, T., 2016, JIMD Reports. 1 ed. Springer, Vol. 26. p. 21-29 9 p. (JIMD Reports; vol. 26).

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

  40. Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency

    Afroze, B., Yunus, Z., Steinmann, B. & Santer, R., 01.09.2013, In: EUR J PEDIATR. 172, 9, p. 1249-53 5 p.

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

  41. Treatment of hyperinsulinaemic hypoglycaemia with nifedipine.

    Eichmann, D., Hufnagel, M., Quick, P. & Santer, R., 1999, In: EUR J PEDIATR. 158, 3, p. 204-206 3.

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

  42. Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop.

    Spiekerkoetter, U., Lindner, M., Santer, R., Grotzke, M., Baumgartner, M., Boehles, H., Das, A., Haase, C., Hennermann, J., Karall, D., de Klerk, H., Knerr, I., Koch, H., Plecko, B., Röschinger, W., Schwab, K., Scheible, D., Wijburg, F., Zschocke, J., Mayatepek, E. & Wendel, U., 2009, In: J INHERIT METAB DIS.

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

  43. Tubulointerstitial nephritis and uveitis in association with Epstein-Barr virus infection.

    Grefer, J., Santer, R., Ankermann, T., Faul, S., Nölle, B. & Eggert, P., 1999, In: PEDIATR NEPHROL. 13, 4, p. 336-339 4.

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

  44. Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.

    Calado, J., Sznajer, Y., Metzger, D., Rita, A., Hogan, M. C., Kattamis, A., Scharf, M., Tasic, V., Greil, J., Brinkert, F., Kemper, M. J. & Santer, R., 2008, In: NEPHROL DIAL TRANSPL. 23, 12, p. 3874-3879 12.

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

  45. Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome.

    Meissner, T., Mayatepek, E., Kinner, M. & Santer, R., 2004, In: CLIN CHIM ACTA. 341, 1-2, p. 23-26 1-2.

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

  46. Urinary excretion of epidermal growth factor and transforming growth factor-alpha in breast-fed and formula-fed infants.

    Santer, R., Borlinghaus, P., Sievers, E., Segura, E. & Lamerz, R., 1993, In: ACTA PAEDIATR. 82, 12, p. 1024-1028 12.

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

  47. Ursodesoxycholic acid: effect on xanthomas in Alagille-Watson syndrome.

    Krawinkel, M. B., Santer, R. & Oldigs, H. D., 1994, In: J PEDIATR GASTR NUTR. 19, 4, p. 476-477 4.

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

  48. Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease

    Lukacs, Z., Nickel, M., Murko, S., Nieves Cobos, P., Schulz, A., Santer, R. & Kohlschütter, A., 05.2019, In: CLIN CHIM ACTA. 492, p. 69-71 3 p.

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

  49. von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.

    Schneppenheim, R., Ulrich, B., Oyen, F., Angerhaus, D., Aumann, V., Drewke, E., Hassenpflug, W., Häberle, J., Kentouche, K., Kohne, E., Kurnik, K., Müller-Wiefel, D. E., Obser, T., Santer, R. & Sykora, K-W., 2003, In: BLOOD. 101, 5, p. 1845-1850 5.

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

  50. Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

    Scholz, T., Blohm, M. E., Kortüm, F., Bierhals, T., Lessel, D., van der Ven, A. T., Lisfeld, J., Herget, T., Kloth, K., Singer, D., Perez, A., Obi, N., Johannsen, J., Denecke, J., Santer, R., Kubisch, C., Deindl, P. & Hempel, M., 2021, In: NEONATOLOGY. 118, 4, p. 454-461 8 p.

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

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