Research ExplorerScientific StaffNicole Maria Muschol Publications

PD Dr.med. ID: 48191

Nicole Maria Muschol

graph of relations
Affiliations
1 - 50 out of 94Page size: 50

Publications

  1. 2002

  2. Secretion of phosphomannosyl-deficient arylsulphatase A and cathepsin D from isolated human macrophages.

    Muschol, N., Matzner, U., Stephan, T., Gieselmann, V., Ullrich, K. & Braulke, T., 2002, In: BIOCHEM J. 368, 3, p. 845-853 3.

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

  3. 2003

  4. Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.

    Mühlhausen, C., Christensen, E., Schwartz, M., Muschol, N., Ullrich, K. & Lukacs, Z., 2003, In: J INHERIT METAB DIS. 26, 7, p. 713-714 2 p., 7.

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

  5. 2004

  6. A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.

    Stephan, T., Cantz, M., Raas-Rothschild, A., Muschol, N., Bürger, F., Ullrich, K. & Braulke, T., 2004, In: HUM MUTAT. 24, 6, p. 535 6.

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

  7. Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.

    Muschol, N., Storch, S., Ballhausen, D., Beesley, C., Westermann, J-C., Gal, A., Ullrich, K., Hopwood, J. J., Winchester, B. & Braulke, T., 2004, In: HUM MUTAT. 23, 6, p. 559-566 6.

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

  8. 2005

  9. Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia

    Mühlhausen, C., Schneppenheim, R., Budde, U., Merkel, M., Muschol, N., Ullrich, K. & Santer, R., 2005, In: J INHERIT METAB DIS. 28, 6, p. 945-950 6 p., 6.

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

  10. Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.

    Stephan, T., Muschol, N., Reutter, G., Cantz, M., Ullrich, K. & Braulke, T., 2005, In: AM J MED GENET A. 137, 3, p. 235-240 3.

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

  11. 2007

  12. Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).

    Haas, D., Garbade, S. F., Vohwinkel, C., Muschol, N., Trefz, F. K., Penzien, J. M., Zschocke, J., Hoffmann, G. F. & Burgard, P., 2007, In: J INHERIT METAB DIS. 30, 3, p. 375-387 3.

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

  13. Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).

    Meyer, A., Kossow, K., Gal, A., Mühlhausen, C., Ullrich, K., Braulke, T. & Muschol, N., 2007, In: PEDIATRICS. 120, 5, p. 1255-1261 5.

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

  14. 2008

  15. The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)

    Meyer, A., Kossow, K., Gal, A., Steglich, C., Mühlhausen, C., Ullrich, K., Braulke, T. & Muschol, N., 05.2008, In: HUM MUTAT. 29, 5, p. 770 5.

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

  16. Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1

    Keyser, B., Glatzel, M., Stellmer, F., Kortmann, B., Lukacs, Z., Kölker, S., Sauer, S. W., Muschol, N., Herdering, W., Thiem, J., Goodman, S. I., Koeller, D. M., Ullrich, K., Braulke, T. & Mühlhausen, C., 06.2008, In: BBA-MOL BASIS DIS. 1782, 6, p. 385-390 6 p., 6.

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

  17. Initial report from the Hunter Outcome Survey

    Wraith, J. E., Beck, M., Giugliani, R., Clarke, J., Martin, R., Muenzer, J., HOS Investigators & Muschol, N. M., 01.07.2008, In: GENET MED. 10, 7, p. 508-16 9 p.

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

  18. Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)

    Keyser, B., Mühlhausen, C., Dickmanns, A., Christensen, E., Muschol, N., Ullrich, K. & Braulke, T., 15.12.2008, In: HUM MOL GENET. 17, 24, p. 3854-3863 10 p., 24.

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

  19. 2009

  20. Kidney transplantation in patients with Fabry disease

    Cybulla, M., Walter, K. N., Schwarting, A., Divito, R., Feriozzi, S., Sunder-Plassmann, G. & European FOS Investigators Group, 04.2009, In: TRANSPL INT. 22, 4, p. 475-481 7 p., 4.

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

  21. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

    Mehta, A., Beck, M., Elliott, P., Giugliani, R., Linhart, A., Sunder-Plassmann, G., Schiffmann, R., Barbey, F., Ries, M. & Fabry Outcome Survey investigators, 12.12.2009, In: LANCET. 374, 9706, p. 1986-1996 11 p.

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

  22. 2010

  23. Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.

    Pohl, S., Encarnação, M., Castrichini, M., Müller-Loennies, S., Muschol, N. & Braulke, T., 01.2010, In: AM J MED GENET A. 152, 1, p. 124-132 9 p., 1.

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

  24. Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey

    Burton, B. K., Guffon, N., Roberts, J., van der Ploeg, A. T., Jones, S. A., HOS Investigators & Muschol, N. M., 20.07.2010, In: MOL GENET METAB. 101, 2-3, p. 123-9 7 p.

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

  25. Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages

    Pohl, S., Tiede, S., Marschner, K., Encarnação, M., Castrichini, M., Kollmann, K., Muschol, N., Ullrich, K., Müller-Loennies, S. & Braulke, T., 30.07.2010, In: J BIOL CHEM. 285, 31, p. 23936-23944 9 p., 31.

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

  26. Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey

    Mendelsohn, N. J., Harmatz, P., Bodamer, O., Burton, B. K., Giugliani, R., Jones, S. A., Lampe, C., Malm, G., Steiner, R. D., Parini, R., Hunter Outcome Survey Investigators & Muschol, N. M., 01.12.2010, In: GENET MED. 12, 12, p. 816-22 7 p.

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

  27. 2011

  28. Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a perspective from the Hunter Outcome Survey (HOS)

    Burton, B. K., Whiteman, D. A. H., HOS Investigators & Muschol, N. M., 01.06.2011, In: MOL GENET METAB. 103, 2, p. 113-20 8 p.

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

  29. Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome

    Muschol, N., Pohl, S., Meyer, A., Gal, A., Ullrich, K. & Braulke, T., 07.2011, In: AM J MED GENET A. 155A, 7, p. 1634-1639 6 p., 7.

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

  30. 2013

  31. The effect of idursulfase on growth in patients with Hunter Syndrome: data from the Hunter Outcome Survey (HOS)

    Jones, S. A., Parini, R., Harmatz, P., Giugliani, R., Fang, J., Mendelsohn, N. J. & HOS Natural History Working Group on behalf of HOS Investigators, 01.05.2013, In: MOL GENET METAB. 109, 1, p. 41-8 8 p.

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

  32. Development of a mnemonic screening tool for identifying subjects with Hunter syndrome

    Cohn, G. M., Morin, I., Whiteman, D. A. H. & Hunter Outcome Survey Investigators, 01.07.2013, In: EUR J PEDIATR. 172, 7, p. 965-70 6 p.

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

  33. 2014

  34. Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series

    Lampe, C., Bosserhoff, A-K., Burton, B. K., Giugliani, R., de Souza, C. F., Bittar, C., Muschol, N., Olson, R. & Mendelsohn, N. J., 05.03.2014, In: J INHERIT METAB DIS. 37, 5, p. 823-829

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

  35. Neurometabolische und Neurodegenerative Krankheiten: Mukopolysaccharidosen (MPS)

    Muschol, N. M., 18.08.2014, Neuropädiatrie: Evidenzbasierte Therapie. Korinthenberg, R., Panteliadis, C. P. & Hagel, C. (eds.). 2 ed. München: Urban & Fischer

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

  36. 2015

  37. Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany

    Hahn, A., Praetorius, S., Karabul, N., Dießel, J., Schmidt, D., Motz, R., Haase, C., Baethmann, M., Hennermann, J. B., Smitka, M., Santer, R., Muschol, N., Meyer, A., Marquardt, T., Huemer, M., Thiels, C., Rohrbach, M., Seyfullah, G. & Mengel, E., 2015, In: JIMD reports. 20, p. 65-75 11 p.

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

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

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

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

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

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

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

  40. Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study

    Burton, B. K., Berger, K. I., Lewis, G. D., Tarnopolsky, M., Treadwell, M., Mitchell, J. J., Muschol, N., Jones, S. A., Sutton, V. R., Pastores, G. M., Lau, H., Sparkes, R., Genter, F., Shaywitz, A. J. & Harmatz, P., 10.2015, In: AM J MED GENET A. 167A, 10, p. 2272-2281 10 p.

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

  41. A Case of a Bilateral Cicatricial Upper Eyelid Entropion After Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type I

    Dulz, S., Wagenfeld, L., Richard, G., Schrum, J., Muschol, N. & Keserü, M., 19.11.2015, In: OPHTHAL PLAST RECONS.

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

  42. Impaired bone remodeling and its correction by combination therapy in a mouse model of mucopolysaccharidosis-I

    Kühn, S. C., Koehne, T., Cornils, K., Markmann, S., Riedel, C., Pestka, J. M., Schweizer, M., Baldauf, C., Yorgan, T. A., Krause, M., Keller, J., Neven, M., Breyer, S., Stücker, R., Muschol, N., Busse, B., Braulke, T., Fehse, B., Amling, M. & Schinke, T., 15.12.2015, In: HUM MOL GENET. 24, 24, p. 7075-7086

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

  43. 2016

  44. Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation

    Schmidt, M., Breyer, S., Löbel, U., Yarar, S., Stücker, R., Ullrich, K., Müller, I. & Muschol, N., 10.07.2016, In: ORPHANET J RARE DIS. 11, 1, p. 93

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

  45. Mannose 6-phosphate-dependent targeting of lysosomal enzymes is required for normal craniofacial and dental development

    Koehne, T., Markmann, S., Schweizer, M., Muschol, N., Friedrich, R. E., Hagel, C., Glatzel, M., Kahl-Nieke, B., Amling, M., Schinke, T. & Braulke, T., 09.2016, In: BBA-MOL BASIS DIS. 1862, 9, p. 1570–1580

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

  46. Nerve ultrasound in clinical management of carpal tunnel syndrome in mucopolysaccharidosis

    Bäumer, T., Bühring, N., Schelle, T., Münchau, A. & Muschol, N., 11.2016, In: DEV MED CHILD NEUROL. 58, 11, p. 1172-1179 8 p.

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

  47. 2017

  48. Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study

    Harmatz, P. R., Mengel, E., Geberhiwot, T., Muschol, N. M., Hendriksz, C. J., Burton, B. K., Jameson, E., Berger, K. I., Jester, A., Treadwell, M., Sisic, Z. & Decker, C., 02.2017, In: AM J MED GENET A. 173, 2, p. 375-383

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

  49. Human dorsal root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy

    Godel, T., Bäumer, P., Pham, M., Köhn, A., Muschol, N., Kronlage, M., Kollmer, J., Heiland, S., Bendszus, M. & Mautner, V-F., 19.09.2017, In: NEUROLOGY. 89, 12, p. 1274-1282 9 p.

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

  50. The mutation p.D313Y is associated with organ manifestation in Fabry disease

    du Moulin, M., Koehn, A. F., Golsari, A., Dulz, S., Atiskova, Y., Patten, M., Münch, J., Avanesov, M., Ullrich, K. & Muschol, N., 11.2017, In: CLIN GENET. 92, 5, p. 528-533 6 p.

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

  51. 2018

  52. Serum Biomarkers of Endothelial Dysfunction in Fabry Associated Cardiomyopathy

    Loso, J., Lund, N., Avanesov, M., Muschol, N., Lezius, S., Cordts, K., Schwedhelm, E. & Patten, M., 2018, In: FRONT CARDIOVASC MED. 5, p. 108

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

  53. Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa

    Berger, K. I., Burton, B. K., Lewis, G. D., Tarnopolsky, M., Harmatz, P. R., Mitchell, J. J., Muschol, N., Jones, S. A., Sutton, V. R., Pastores, G. M., Lau, H., Sparkes, R. & Shaywitz, A. J., 01.2018, In: JIMD reports. 42, p. 9-17 9 p.

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

  54. Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study

    Koehne, T., Köhn, A., Friedrich, R. E., Kordes, U., Schinke, T., Muschol, N. & Kahl-Nieke, B., 04.2018, In: CLIN ORAL INVEST. 22, 3, p. 1541-1549 9 p.

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

  55. p.D313Y is more than just a polymorphism in Fabry disease

    du Moulin, M. & Muschol, N., 06.2018, In: CLIN GENET. 93, 6, p. 1258

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

  56. Hip Dysplasia in Mucopolysaccharidosis Type IVA (Morquio A Syndrome) Treated by Proximal Femoral Valgization Osteotomy: A Case Report

    Berger-Groch, J., Rupprecht, M., Stuecker, R., Muschol, N. & Breyer, S. R., 09.2018, In: J Orthop Case Rep. 8, 5, p. 50-53 4 p.

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

  57. Hip Morphology in MPS-1H Patients: An MRI-based Study

    Breyer, S., Muschol, N. M., Schmidt, M., Rupprecht, M., Babin, K., Herrmann, J. & Stücker, R., 10.2018, In: J PEDIATR ORTHOPED. 38, 9, p. 478-483 6 p.

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

  58. Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis

    Lund, A. M., Borgwardt, L., Cattaneo, F., Ardigò, D., Geraci, S., Gil-Campos, M., De Meirleir, L., Laroche, C., Dolhem, P., Cole, D., Tylki-Szymanska, A., Lopez-Rodriguez, M., Guillén-Navarro, E., Dali, C. I., Héron, B., Fogh, J., Muschol, N., Phillips, D., Van den Hout, J. M. H., Jones, S. A., Amraoui, Y., Harmatz, P. & Guffon, N., 11.2018, In: J INHERIT METAB DIS. 41, 6, p. 1225-1233 9 p.

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

  59. Dorsal root ganglia in vivo morphometry and perfusion in female patients with Fabry disease

    Godel, T., Köhn, A., Muschol, N., Kronlage, M., Schwarz, D., Kollmer, J., Heiland, S., Bendszus, M., Mautner, V-F. & Bäumer, P., 11.2018, In: J NEUROL. 265, 11, p. 2723-2729 7 p.

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

  60. The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover

    Pohl, S., Angermann, A., Jeschke, A., Hendrickx, G., Yorgan, T. A., Makrypidi-Fraune, G., Steigert, A., Kuehn, S. C., Rolvien, T., Schweizer, M., Koehne, T., Neven, M., Winter, O., Velho, R. V., Albers, J., Streichert, T., Pestka, J. M., Baldauf, C., Breyer, S., Stuecker, R., Muschol, N., Cox, T. M., Saftig, P., Paganini, C., Rossi, A., Amling, M., Braulke, T. & Schinke, T., 12.2018, In: J BONE MINER RES. 33, 12, p. 2186-2201 16 p.

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

  61. 2019

  62. Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial

    Wijburg, F. A., Whitley, C. B., Muenzer, J., Gasperini, S., Del Toro, M., Muschol, N., Cleary, M., Sevin, C., Shapiro, E., Bhargava, P., Kerr, D. & Alexanderian, D., 02.2019, In: MOL GENET METAB. 126, 2, p. 121-130 10 p.

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

  63. Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)

    Muschol, N. M., Pape, D., Kossow, K., Ullrich, K., Arash-Kaps, L., Hennermann, J. B., Stücker, R. & Breyer, S., 02.05.2019, In: ORPHANET J RARE DIS. 14, 1, p. 93

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

  64. Dorsal root ganglia volume is increased in patients with the Fabry-related GLA variant p.D313Y

    Godel, T., Bäumer, P., Stumpfe, K., Muschol, N., Kronlage, M., Brunnée, M., Kollmer, J., Heiland, S., Bendszus, M. & Mautner, V-F., 06.2019, In: J NEUROL. 266, 6, p. 1332-1339 8 p.

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

  65. 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

  66. 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

Previous 1 2 Next