Research ExplorerScientific StaffRene Santer Publications

Prof. Dr. ID: 71389

Rene Santer

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Publications

  1. Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.

    Santer, R., Rischewski, J., Block, G., Kinner, M., Wendel, U., Schaub, J. & Schneppenheim, R., 08.2000, In: HUM MUTAT. 16, 2, p. 177 2.

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

  2. Decreased activity of respiratory-chain enzymes in glutaric aciduria type II.

    Santer, R., Claass, A., Krawinkel, M., Schaub, J. & Ruitenbeek, W., 1995, In: J INHERIT METAB DIS. 18, 1, p. 75-76 1.

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

  3. Computed tomography in superior mesenteric artery syndrome.

    Santer, R., Young, C., Rossi, T. & Riddlesberger, M. M., 1991, In: PEDIATR RADIOL. 21, 2, p. 154-155 2.

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

  4. [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

  5. 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

  6. Molecular analysis of the SGLT2 gene in patients with renal glucosuria.

    Santer, R., Kinner, M., Lassen, C. L., Schneppenheim, R., Eggert, P., Bald, M., Brodehl, J., Daschner, M., Ehrich, J. H. H., Kemper, M. J., Salvatore, L. V., Neuhaus, T., Skovby, F., Swift, P. G. F., Schaub, J. & Klaerke, D., 2003, In: J AM SOC NEPHROL. 14, 11, p. 2873-2882 11.

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

  7. 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

  8. Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target.

    Santer, R. & Calado, J., 2010, In: CLIN J AM SOC NEPHRO. 5, 1, p. 133-141 1.

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

  9. Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome.

    Santer, R., Schmidt-Sommerfeld, E., Leung, Y. K., Fischer, J. E. & Lebenthal, E., 1990, In: EUR J PEDIATR. 150, 2, p. 111-114 2.

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

  10. Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.

    Santer, R., Schneppenheim, R., Dombrowski, A., Götze, H., Steinmann, B. & Schaub, J., 1997, In: NAT GENET. 17, 3, p. 324-326 3.

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

  11. Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.

    Santer, R., Kinner, M., Passarge, M., Superti-Furga, A., Mayatepek, E., Meissner, T., Schneppenheim, R. & Schaub, J., 2001, In: HUM GENET. 108, 1, p. 66-71 1.

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

  12. Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.

    Santer, R., Kinner, M., Steuerwald, U., Kjaergaard, S., Skovby, F., Simonsen, H., Shaiu, W. L., Chen, Y. T., Schneppenheim, R. & Schaub, J., 2001, In: EUR J HUM GENET. 9, 5, p. 388-391 5.

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

  13. Discordance for hyperinsulinemic hypoglycemia in monozygotic twins.

    Santer, R., Hoffmann, H., Suttorp, M., Simeoni, E. & Schaub, J., 1995, In: J PEDIATR-US. 126, 6, p. 1017 6.

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

  14. Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.

    Santer, R., Gokçay, G., Demirkol, M., Gal, A. & Lukacs, Z., 2005, In: J INHERIT METAB DIS. 28, 2, p. 137-140 2.

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

  15. Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport.

    Santer, R., Steinmann, B. & Schaub, J., 2002, In: CURR MOL MED. 2, 2, p. 213-227 2.

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

  16. 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

  17. A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis

    Santer, R., du Moulin, M., Shahinyan, T., Vater, I., Maier, E., Muntau, A. C. & Steinmann, B., 2016, In: ORPHANET J RARE DIS. 11, p. 44

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

  18. 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

  19. 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

  20. Celiac disease and selective IgA deficiency in a girl with atypical Turner syndrome.

    Schewior, S., Brand, M. & Santer, R., 1999, In: J PEDIATR GASTR NUTR. 28, 3, p. 353-354 3.

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

  21. High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.

    Schilling, A., Mülhausen, C., Lehmann, W., Santer, R., Schinke, T., Rueger, J. M. & Amling, M., 2007, In: OSTEOPOROSIS INT. 18, 5, p. 659-669 5.

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

  22. 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

  23. Detection and quantitation of acylcarnitines in plasma and blood spots from patients with inborn errors of fatty acid oxidation.

    Schmidt-Sommerfeld, E., Penn, D., Duran, M., Rinaldo, P., Bennett, M. J., Santer, R. & Stanley, C. A., 1992, In: Prog Clin Biol Res. 375, p. 355-362

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

  24. Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method.

    Schmidt-Sommerfeld, E., Penn, D., Duran, M., Bennett, M. J., Santer, R. & Stanley, C. A., 1993, In: J PEDIATR-US. 122(5 Pt 1), p. 708-714

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

  25. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

    Schneeberger, P. E., Kortüm, F., Korenke, G. C., Alawi, M., Santer, R., Woidy, M., Buhas, D., Fox, S., Juusola, J., Alfadhel, M., Webb, B. D., Coci, E. G., Abou Jamra, R., Siekmeyer, M., Biskup, S., Heller, C., Maier, E. M., Javaher-Haghighi, P., Bedeschi, M. F., Ajmone, P. F., Iascone, M., Peeters, H., Ballon, K., Jaeken, J., Rodríguez Alonso, A., Palomares-Bralo, M., Santos-Simarro, F., Meuwissen, M. E. C., Beysen, D., Kooy, R. F., Houlden, H., Murphy, D., Doosti, M., Karimiani, E. G., Mojarrad, M., Maroofian, R., Noskova, L., Kmoch, S., Honzik, T., Cope, H., Sanchez-Valle, A., Undiagnosed Diseases Network, Gelb, B. D., Kurth, I., Hempel, M. & Kutsche, K., 01.08.2020, In: BRAIN. 143, 8, p. 2437-2453 17 p.

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

  26. 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

  27. Long-term outcome of renal glucosuria type 0: the original patient and his natural history.

    Scholl-Bürgi, S., Santer, R. & Ehrich, J. H. H., 2004, In: NEPHROL DIAL TRANSPL. 19, 9, p. 2394-2396 9.

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

  28. 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

  29. High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor gamma: implications for the pathophysiology of phenylketonuria.

    Schumacher, U., Lukacs, Z., Kaltschmidt, C., Freudlsperger, C., Schulz, D., Kompisch, K., Müller, R., Rudolph, T. K., Santer, R., Lorke, D. & Ullrich, K., 2008, In: NEUROBIOL DIS. 32, 3, p. 385-390 3.

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

  30. Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

    Sentner, C. P., Hoogeveen, I. J., Weinstein, D. A., Santer, R., Murphy, E., McKiernan, P. J., Steuerwald, U., Beauchamp, N. J., Taybert, J., Laforêt, P., Petit, F. M., Hubert, A., Labrune, P., Smit, G. P. A. & Derks, T. G. J., 09.2016, In: J INHERIT METAB DIS. 39, 5, p. 697-704 8 p.

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

  31. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

    Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., Undiagnosed Diseases Network, Freemark, M. S., Bellet, J. S., Keels, M. A., Bonner, M. J., El-Dairi, M., Butler, M., Kranz, P. G., Stumpel, C. T. R. M., Klinkenberg, S., Oberndorff, K., Alawi, M., Santer, R., Petrovski, S., Kuismin, O., Korpi-Heikkilä, S., Pietilainen, O., Aarno, P., Kurki, M. I., Hoischen, A., Need, A. C., Goldstein, D. B. & Kortüm, F., 06.10.2016, In: AM J HUM GENET. 99, 4, p. 991-999 9 p.

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

  32. Feeding patterns in breast-fed and formula-fed infants.

    Sievers, E., Oldigs, H-D., Santer, R. & Schaub, J., 2002, In: ANN NUTR METAB. 46, 6, p. 243-248 6.

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

  33. Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results 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

  34. 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

  35. 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

  36. Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.

    Spinazzola, A., Santer, R., Akman, O. H., Tsiakas, K. K., Schaefer, H., Ding, X., Karadimas, C. L., Shanske, S., Ganesh, J., Salvatore, D. M. & Zeviani, M., 2008, In: ARCH NEUROL-CHICAGO. 65, 8, p. 1108-1113 8.

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

  37. Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.

    Stadler, S. C., Polanetz, R., Maier, E. M., Heidenreich, S. C., Niederer, B., Mayerhofer, P. U., Lagler, F., Koch, H-G., Santer, R., Fletcher, J. M., Ranieri, E., Das, A. M., Spiekerkötter, U., Schwab, K. O., Pötzsch, S., Marquardt, I., Hennermann, J. B., Knerr, I., Mercimek-Mahmutoglu, S., Kohlschmidt, N., Liebl, B., Fingerhut, R., Olgemöller, B., Muntau, A. C., Roscher, A. A. & Röschinger, W., 2006, In: HUM MUTAT. 27, 8, p. 748-759 8.

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

  38. 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

  39. A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration.

    Tanaka, K., Gregersen, N., Ribes, A., Kim, J., Kølvraa, S., Winter, V., Eiberg, H., Martinez, G., Deufel, T., Leifert, B., Santer, R., François, B., Pronicka, E., László, A., Kmoch, S., Kremensky, I., Kalaydjicva, L., Ozalp, I. & Ito, M., 1997, In: PEDIATR RES. 41, 2, p. 201-209 2.

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

  40. Nephrolithiasis in a child with glucose-galactose malabsorption.

    Tasic, V., Slaveska, N., Blau, N. & Santer, R., 2004, In: PEDIATR NEPHROL. 19, 2, p. 244-246 2.

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

  41. Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.

    Valianpour, F., Wanders, R. J. A., Overmars, H., Vreken, P., Gennip, V., Albert, H., Baas, F., Santer, R., Santer, R., Becker, K. & Barth, P. G., 2002, In: J PEDIATR-US. 141, 5, p. 729-733 5.

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

  42. 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

  43. Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease

    van der Ven, A. T., Cabrera-Orefice, A., Wente, I., Feichtinger, R. G., Tsiakas, K., Weiss, D., Bierhals, T., Scholle, L., Prokisch, H., Kopajtich, R., Santer, R., Mayr, J. A., Hempel, M. & Wittig, I., 11.2023, In: MOL GENET METAB. 140, 3, p. 107675

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

  44. A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate.

    van Diggelen, O. P., Voznyi, Y. V., Keulemans, J. L. M., Schoonderwoerd, K., Ledvinova, J., Mengel, E., Zschiesche, M., Santer, R. & Harzer, K., 2005, In: J INHERIT METAB DIS. 28, 5, p. 733-741 5.

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

  45. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

    Vogel, G. F., Mozer-Glassberg, Y., Landau, Y. E., Schlieben, L. D., Prokisch, H., Feichtinger, R. G., Mayr, J. A., Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F. S., Baker, J. J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D., Das, A. M., Darin, N., Della Marina, A., Distelmaier, F., Eklund, E. A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R. D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M. G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, H., Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R. W., Thorburn, D. R., Teles, E. L., Wang, J-S., Weghuber, D. & Wortmann, S., 06.2023, In: GENET MED. 25, 6, p. 100314

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

  46. Correction: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

    Vogel, G. F., Mozer-Glassberg, Y., Landau, Y. E., Schlieben, L. D., Prokisch, H., Feichtinger, R. G., Mayr, J. A., Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F. S., Baker, J. J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D., Das, A. M., Darin, N., Della Marina, A., Distelmaier, F., Eklund, E. A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R. D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M. G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, H., Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R. W., Thorburn, D. R., Teles, E. L., Wang, J-S., Weghuber, D. & Wortmannd, S., 06.2023, In: GENET MED. 25, 6, p. 100828

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

  47. Fanconi-Bickel syndrome and fertility.

    von Schnakenburg, C. & Santer, R., 2011, In: AM J MED GENET A. 155A, 10, p. 2607 10.

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

  48. A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.

    Wiebusch, H., Funke, H., Santer, R., Richter, W. & Assmann, G., 1996, In: HUM MUTAT. 8, 4, p. 392 4.

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

  49. MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.

    Wightman, P. J., Santer, R., Ribes, A., Dougherty, F., McGill, N., Thorburn, D. R. & FitzPatrick, D. R., 2003, In: HUM MUTAT. 22, 4, p. 288-300 4.

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

  50. Effects of Infantile Hypophosphatasia on Human Dental Tissue

    Wölfel, E. M., von Kroge, S., Matthies, L., Köhne, T., Petz, K., Beikler, T., Schmid-Herrmann, C., Kahl-Nieke, B., Tsiakas, K., Santer, R., Muschol, N. M., Herrmann, J., Busse, B., Amling, M., Rolvien, T., Jandl, N. M. & Barvencik, F., 03.2023, In: CALCIFIED TISSUE INT. 112, 3, p. 308-319 12 p.

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

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