R. Santer

发表

V. Rubio, H. Mandel, J. Häberle, 2019, Journal of inherited metabolic disease.

A. De Grassi, J. Abdenur, P. Lennertz, 2017, Journal of Inherited Metabolic Disease.

M. Knaap, Z. Lukacs, R. Santer, 2014, Journal of Inherited Metabolic Disease.

E. Mayatepek, T. Meissner, R. Santer, 2001, Acta paediatrica.

R. Santer, R. Schneppenheim, G. Hillebrand, 2000, Archives of disease in childhood.

M. Fobker, T. Marquardt, K. Tsiakas, 2017, Genetics in Medicine.

Simona Lucioli, Ron A Wevers, Eva Morava, 2007, Brain : a journal of neurology.

W. Shaiu, U. Steuerwald, Yuan-Tsong Chen, 2001, European Journal of Human Genetics.

Kerstin Kutsche, Jonas Denecke, D. Lessel, 2018, American journal of human genetics.

R. Siebert, Jian-Bing Fan, J. Martín-Subero, 2008, American journal of medical genetics. Part A.

R. Santer, J. Calado, 2010, American Society of Nephrology. Clinical Journal.

J. Ganesh, M. Zeviani, Xiaoqi Q Ding, 2008, Archives of neurology.

A. Hoischen, A. Need, D. Goldstein, 2017, American journal of human genetics.

Y. Wada, T. Marquardt, R. Santer, 2015, JIMD reports.

Y. Wada, H. Omran, K. Boycott, 2015, American journal of human genetics.

S. Wortmann, C. Thiel, D. Lefeber, 2021, Journal of inherited metabolic disease.

R. Santer, J. Calado, J. Rueff, 2011, Kidney international. Supplement.

J. Ehrich, R. Santer, S. Scholl‐Bürgi, 2004, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

R. Santer, B. Steinmann, J. Schaub, 2003, Gastroenterology.

M. Baumgartner, E. Mayatepek, I. Knerr, 2009, Journal of Inherited Metabolic Disease.

M. Baumgartner, E. Mayatepek, I. Knerr, 2009, Journal of Inherited Metabolic Disease.

V. Tasic, N. Blau, R. Santer, 2004, Pediatric Nephrology.

R. Santer, J. Klepper, 2006 .

D. Zafeiriou, G. Horvath, G. Hoffmann, 2022, Annals of neurology.

N. Blau, J. Zschocke, R. Santer, 2002, Journal of Inherited Metabolic Disease.

T. Strom, H. Williams, H. Brunner, 2017, American journal of human genetics.

R. Siebert, R. Santer, E. Simeoni, 2000, Journal of medical genetics.

D. Fitzpatrick, A. Ribes, D. Thorburn, 2003, Human mutation.

M. Melter, R. Santer, U. Baumann, 2013, Pädiatrische Gastroenterologie, Hepatologie und Ernährung.

M. Baumgartner, T. Suormala, S. Grünert, 2012, Journal of Inherited Metabolic Disease.

P. Laforêt, Irene J. Hoogeveen, U. Steuerwald, 2016, Journal of Inherited Metabolic Disease.

S. Grünert, K. Tsiakas, M. Lindner, 2021, Journal of inherited metabolic disease.

R. Santer, M. Brand, S. Schewior, 1999, Journal of pediatric gastroenterology and nutrition.

R. Santer, E. Lebenthal, P. C. Lee, 1989, Journal of steroid biochemistry.

R. Santer, B. Steinmann, 2000 .

H. Naim, R. Santer, D. Wanes, 2022, Biochimica et biophysica acta. Molecular basis of disease.

R. Santer, M. Hufnagel, P. Quick, 1999, European Journal of Pediatrics.

L. de Meirleir, R. Wevers, S. Wortmann, 2015, Neuropediatrics.

M. Merkel, J. Zschocke, R. Santer, 2009, Journal of Inherited Metabolic Disease.

H. Mefford, Manuela Pendziwiat, H. Muhle, 2018, Genetics in Medicine.

Robert W. Taylor, D. Turnbull, M. Zeviani, 2006, Brain : a journal of neurology.

R. Ganetzky, H. Prokisch, E. Eklund, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

M. Baumgartner, T. Suormala, S. Grünert, 2012, Journal of Inherited Metabolic Disease.

R. Santer, B. Steinmann, J. Schaub, 2002, Current molecular medicine.

M. Baumgartner, M. Hochuli, R. Lachmann, 2013, Journal of Inherited Metabolic Disease.

M. Baumgartner, Á. Schuler, N. Blau, 2008, Molecular genetics and metabolism.

M. Aepfelbacher, J. Knobloch, R. Kobbe, 2020, Clinical Microbiology and Infection.

R. Santer, D. Müller, J. Schaub, 1997, Journal of Inherited Metabolic Disease.

U. Schüller, T. Pietsch, S. Rutkowski, 2018, Child's Nervous System.

H. Mizumoto, S. Wortmann, S. Grünert, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

R. Santer, B. Afroze, B. Steinmann, 2013, European Journal of Pediatrics.

J. Fischer, R. Santer, E. Lebenthal, 1990, European Journal of Pediatrics.

R. Santer, W. Ruitenbeek, J. Schaub, 1995, Journal of Inherited Metabolic Disease.

M. Baumgartner, R. Santer, B. Steinmann, 2007, Journal of Inherited Metabolic Disease.

V. Rubio, N. Boddaert, J. Häberle, 2012, Orphanet Journal of Rare Diseases.

M. Baumgartner, T. Suormala, S. Grünert, 2013, Orphanet Journal of Rare Diseases.

H. Mandel, M. Hochuli, J. Jordan, 2014, Orphanet Journal of Rare Diseases.

R. Santer, A. Claviez, H. Horst, 2003, Annals of Hematology.

R. Santer, Y. Shin-Buehring, M. Osang, 1981, Journal of Inherited Metabolic Disease.

B. Chevallier, M. Brivet, R. Santer, 2002, Journal of Inherited Metabolic Disease.

R. Wanders, R. Schutgens, R. Santer, 1993, European Journal of Pediatrics.

T. Marquardt, K. Tsiakas, R. Santer, 2014, Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.

D. Zafeiriou, M. Verbeek, H. Goez, 2021, Nature Communications.

R. Santer, I. Barić, M. Ćuk, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

M. Schweizer, M. Amling, T. Braulke, 2013, EMBO molecular medicine.

R. Santer, S. Nadalin, X. Rogiers, 2019, Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.

B. Nashan, R. Santer, L. Fischer, 2017, Pediatric transplantation.

P. Propping, S. Aretz, R. Santer, 2005, Human mutation.

S. Grünert, T. Marquardt, S. Kölker, 2021, Journal of inherited metabolic disease.

D. Mueller-Wiefel, E. Kohne, J. Häberle, 2003, Blood.

A. Hoischen, A. Need, D. Goldstein, 2016, American journal of human genetics.

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, medRxiv.

H. Mefford, Manuela Pendziwiat, H. Muhle, 2018, Genetics in Medicine.

T. Meitinger, T. Strom, F. Kortüm, 2019, Deutsches Arzteblatt international.

R. Santer, H. Oldigs, E. Sievers, 1991, Journal of pediatric gastroenterology and nutrition.

R. Santer, A. Gosch, R. Pankau, 1993, Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde.

Yves Sznajer, Ana Rita, V. Tasic, 2008, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Robert W. Taylor, W. Chung, H. Prokisch, 2017, Annals of neurology.

D. Bichet, R. Santer, J. Calado, 2017, Journal of the American Society of Nephrology : JASN.

R. Santer, R. Schneppenheim, A. Hahn, 2001, Pediatric Nephrology.

A. Schulz, U. Kornak, M. Hahn, 2014, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

I. Harting, D. Zafeiriou, J. Friedman, 2021, Journal of inherited metabolic disease.

E. Vettorazzi, R. Santer, S. Pohl, 2020, Journal of clinical medicine.

R. Santer, P. Whitington, I. Barić, 2012, Journal of pediatric gastroenterology and nutrition.

R. Santer, H. Oldigs, M. Krawinkel, 1994, Journal of pediatric gastroenterology and nutrition.

C. Largiadèr, K. Tsiakas, J. Häberle, 2008, Molecular genetics and metabolism.

E. Sistermans, M. McDonald, T. Ben-Omran, 2013, American journal of human genetics.

S. Grünert, J. Sass, R. Santer, 2012, Molecular genetics and metabolism.

R. Santer, C. von Schnakenburg, 2011, American journal of medical genetics. Part A.

B. Maranda, A. Novelli, R. Santer, 2019, Journal of inherited metabolic disease.

G. Sersale, R. Santer, R. Parini, 2006, Journal of Inherited Metabolic Disease.

R. Czajka, K. Ciechanowski, R. Santer, 2011, American journal of medical genetics. Part A.

R. Santer, R. Schneppenheim, B. Steinmann, 1998, Journal of Inherited Metabolic Disease.

A. Sarkissian, R. Santer, B. Steinmann, 2004, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

B. Szwergold, J. Baynes, R. Santer, 2005, Molecular genetics and metabolism.

M. Amling, K. Tsiakas, B. Busse, 2022, Calcified Tissue International.

R. Santer, P. Eggert, B. Nölle, 1999, Pediatric Nephrology.

Peter H. Seeberger, Jasmin Heidepriem, Felix F. Loeffler, 2020, medRxiv.

M. Zeviani, E. Lamantea, M. Filosto, 2005, Brain : a journal of neurology.

R. Santer, T. Rossi, M. M. Riddlesberger, 2005, Pediatric Radiology.

R. Santer, U. Wendel, J. Schaub, 1994, Journal of Inherited Metabolic Disease.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

P. Andersen, S. Marklund, M. Hempel, 2019, The New England journal of medicine.

R. Vierk, G. Rune, R. Santer, 2015, Human molecular genetics.

M. Merkel, R. Santer, C. Mühlhausen, 2005, Journal of Inherited Metabolic Disease.

C. Stanley, M. Durán, M. Bennett, 1992, Progress in clinical and biological research.

G. Rune, R. Santer, K. Ullrich, 2016, Experimental Neurology.

U. Steuerwald, R. Santer, R. Schneppenheim, 2010, Pediatric blood & cancer.

H. Prokisch, M. Hempel, I. Wittig, 2023, Molecular genetics and metabolism.

D. Mueller-Wiefel, E. Kohne, J. Häberle, 2003, Blood.

M. Kemper, K. Rüther, R. Santer, 2012, Journal of child neurology.

K. Tsiakas, R. Santer, U. Herden, 2023, Molecular genetics and metabolism reports.

H. Prokisch, M. Hempel, R. Santer, 2020, Molecular genetics and metabolism reports.

R. Santer, J. Calado, 2010, American Society of Nephrology. Clinical Journal.

R. Santer, A. Kohlschütter, P. Nieves Cobos, 2019, Clinica chimica acta; international journal of clinical chemistry.

R. Santer, J. Schaub, E. Sievers, 1996, Acta paediatrica.

Thomas P. Mechtler, R. Santer, B. Streubel, 2021, Molecular Genetics and Metabolism.

S. Kölker, M. Lindner, R. Santer, 2023, Journal of inherited metabolic disease.

M. Melter, R. Santer, U. Baumann, 2013, Pädiatrische Gastroenterologie, Hepatologie und Ernährung.