S. Scholl-Bürgi
发表
H. Blom,
Y. Chien,
W. Hwu,
2015,
Orphanet Journal of Rare Diseases.
V. Stoppioni,
J. Vockley,
B. Burton,
2020,
American journal of human genetics.
S. Wortmann,
B. Plecko,
D. Karall,
2020,
Diagnostics.
I. Rivera,
P. Verloo,
D. Timson,
2020,
Genetics in Medicine.
M. Keller,
J. Zschocke,
D. Karall,
2022,
Cellular and Molecular Life Sciences.
R. Crazzolara,
A. Griesmacher,
T. Müller,
2020,
Pediatric blood & cancer.
Michael Höck,
M. Hammerl,
D. Karall,
2021,
Italian Journal of Pediatrics.
Michael Höck,
M. Hammerl,
D. Karall,
2020
.
D. Karall,
A. Superti-Furga,
E. Steichen‐Gersdorf,
2016,
Scientific Reports.
S. Tims,
C. Marsaux,
S. Santra,
2022,
Molecular genetics and metabolism.
D. Karall,
E. Haberlandt,
K. Pichler,
2015,
Journal of Inherited Metabolic Disease.
W. Prokop,
M. Nagl,
W. Gottardi,
2008,
Journal of Dairy Research.
C. Wouters,
Y. Crow,
L. Adès,
2016,
Journal of Clinical Immunology.
J. Neuberger,
K. Rostásy,
T. Gotwald,
2009,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
M. Baumgartner,
T. Suormala,
S. Grünert,
2012,
Journal of Inherited Metabolic Disease.
M. Baumgartner,
E. Rodrigues,
C. Ortez,
2015,
Journal of Inherited Metabolic Disease.
F. Messner,
M. Maglione,
R. Margreiter,
2020,
Transplantation proceedings.
Robert W. Taylor,
H. Prokisch,
N. Hauser,
2015,
Journal of Inherited Metabolic Disease.
F. Benedicenti,
D. Karall,
A. Superti-Furga,
2020,
Molecular genetics & genomic medicine.
M. Keller,
J. Zschocke,
D. Karall,
2022,
Cellular and Molecular Life Sciences.
M. Bachmann,
D. Karall,
M. Schirmer,
2022,
Frontiers in Immunology.
M. Baumgartner,
K. Seppi,
D. Karall,
2014,
Orphanet Journal of Rare Diseases.
J. Friedman,
M. Kurian,
G. Horvath,
2016,
Molecular genetics and metabolism reports.
C. Fauth,
Michael Höck,
D. Lefeber,
2015,
Orphanet Journal of Rare Diseases.
D. Karall,
H. Leitner,
J. Ndayisaba,
2015,
Journal of pediatric gastroenterology and nutrition.
F. Rieux-Laucat,
J. Casanova,
S. Lovell,
2010,
Nature Genetics.
M. Baumgartner,
B. Seifert,
H. Blom,
2019,
Journal of inherited metabolic disease.
M. Baumgartner,
B. Seifert,
H. Blom,
2018,
Journal of Inherited Metabolic Disease.
D. Fuchs,
S. Geisler,
H. Schennach,
2013,
Clinical biochemistry.
C. Huck,
D. Karall,
V. Wiedemair,
2020,
Chromatographia.
Anita MacDonald,
Flemming Skovby,
Brian Fowler,
2014,
Orphanet Journal of Rare Diseases.
J. Sass,
J. Zschocke,
D. Karall,
2012,
Journal of Inherited Metabolic Disease.
C. Sergi,
S. Mumm,
M. Whyte,
2007,
Bone.
M. Baumgartner,
M. Hochuli,
S. Grünert,
2021,
Journal of inherited metabolic disease.
M. Baumgartner,
T. Suormala,
S. Grünert,
2013,
Orphanet Journal of Rare Diseases.
John H. Neumeister,
T. Giese,
C. Sergi,
2011,
BMC infectious diseases.
T. Giese,
C. Sergi,
R. Geiger,
2009,
BMC pulmonary medicine.
D. Karall,
V. Ruzsányi,
S. Scholl‐Bürgi,
2018,
Journal of breath research.
H. Mandel,
M. Hochuli,
J. Jordan,
2014,
Orphanet Journal of Rare Diseases.
H. Ulmer,
D. Karall,
F. Deisenhammer,
2008,
Pediatrics.
T. Müller,
D. Karall,
A. Amann,
2016,
Journal of breath research.
D. Zafeiriou,
M. Verbeek,
H. Goez,
2021,
Nature Communications.
K. Rostásy,
B. Plecko,
D. Karall,
2009,
Neuropediatrics.
K. Rostásy,
T. Gotwald,
D. Karall,
2009,
Neuropediatrics.
M. Baumgartner,
R. Lachmann,
E. Rodrigues,
2015,
Journal of Inherited Metabolic Disease.
G. Luef,
D. Karall,
M. Laimer,
2008,
Epilepsy Research.
C. Fauth,
G. Utermann,
D. Kotzot,
2005,
American journal of medical genetics. Part A.
B. Plecko,
J. Zschocke,
D. Karall,
2013,
Journal of Inherited Metabolic Disease.
J. Vockley,
S. Wortmann,
T. Derks,
2020,
Genetics in Medicine.
G. Francis,
Qian Wang,
D. Gaudet,
2021,
The Lancet.
I. Knerr,
C. Klein,
D. Karall,
2018,
Journal of Inherited Metabolic Disease.
L. Abrami,
F. G. van der Goot,
P. Bonaldo,
2017,
Nature Communications.
M. Baumgartner,
A. Schlune,
M. Landolt,
2016,
JIMD reports.
D. Timson,
M. Gautschi,
M. Couce,
2022,
Orphanet Journal of Rare Diseases.
C. Wouters,
Y. Crow,
L. Adès,
2016,
Journal of Clinical Immunology.
C. Wouters,
Y. Crow,
L. Adès,
2016,
Journal of Clinical Immunology.
A. Janecke,
T. Müller,
C. Pototschnig,
2018,
European Journal of Medical Research.
J. Sass,
D. Karall,
W. Sperl,
2007,
The Journal of pediatrics.
M. Verbeek,
H. Goez,
J. Friedman,
2020,
Orphanet Journal of Rare Diseases.
M. Verbeek,
H. Goez,
J. Friedman,
2020,
Orphanet Journal of Rare Diseases.
S. Wortmann,
D. Karall,
J. Mayr,
2018,
Biomedical Journal of Scientific & Technical Research.
K. Rostásy,
D. Karall,
K. Schwarz,
2009,
Journal of breath research.
L. Zimmerhackl,
J. Brunner,
S. Scholl‐Bürgi,
2007,
Rheumatology International.
E. Bertini,
T. Meitinger,
T. Strom,
2015,
American journal of human genetics.
M. Prelog,
L. Zimmerhackl,
J. Brunner,
2008,
Rheumatology International.
M. Prelog,
L. Zimmerhackl,
J. Brunner,
2007,
Rheumatology International.
J. Sass,
E. Christensen,
Raymond Y. Wang,
2010,
Human mutation.
J. Sass,
S. Korman,
D. Karall,
2008,
Journal of Inherited Metabolic Disease.
M. Baumgartner,
T. Suormala,
S. Grünert,
2012,
Journal of Inherited Metabolic Disease.
T. Koal,
D. Enot,
H. Deigner,
2010,
PloS one.
C. Salvador,
T. Mueller,
G. Kropshofer,
2013,
Klinische Pädiatrie.
C. Lamina,
T. Müller,
D. Karall,
2021,
Acta paediatrica.
C. Lamina,
D. Karall,
K. Kapelari,
2021,
Pediatric emergency care.
M. Baumgartner,
D. Rizopoulos,
Y. Chien,
2019,
Molecular genetics and metabolism.
K. Rostásy,
J. Häberle,
D. Karall,
2012,
Neuropediatrics.
C. Fauth,
K. Rostásy,
G. Utermann,
2014,
Clinical genetics.
M. Baumgartner,
S. Grünert,
M. Landolt,
2019,
Orphanet Journal of Rare Diseases.
D. Fuchs,
B. Sperner-Unterweger,
M. Ledochowski,
2008,
Current drug metabolism.
H. Tilg,
A. Moschen,
T. Müller,
2021,
Clinical and translational gastroenterology.
D. Karall,
A. Hansel,
A. Amann,
2005
.
K. Unterkofler,
A. Dzien,
W. Miekisch,
2009,
Journal of breath research.
C. Salvador,
D. Karall,
R. Geiger,
2020,
Scientific Reports.
M. Keller,
C. Salvador,
D. Karall,
2020,
Therapeutic advances in chronic disease.
C. Salvador,
D. Karall,
R. Geiger,
2019,
Cardiovascular & hematological disorders drug targets.
C. Fauth,
C. Schwarzer,
K. Rostásy,
2012,
Annals of human genetics.
C. Salvador,
D. Karall,
V. Wiedemair,
2020,
Metabolomics.
N. Baena,
G. Antiñolo,
S. Gökben,
2019,
Scientific Reports.
D. Karall,
L. Martorell,
E. Haberlandt,
2007,
European journal of medical genetics.
J. Ehrich,
R. Santer,
S. Scholl‐Bürgi,
2004,
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
G. Blatsios,
D. Karall,
A. Entenmann,
2015,
Klinische Pädiatrie.
N. Baena,
G. Antiñolo,
Gábor Csányi,
2017,
Scientific Reports.
N. Baena,
G. Antiñolo,
S. Gökben,
2017,
Scientific Reports.
C. Fauth,
D. Karall,
W. Sperl,
2018,
Congenital heart disease.
M. Keller,
D. Karall,
H. Oberacher,
2021,
Metabolites.
K. Rostásy,
J. Sass,
D. Karall,
2010,
Amino Acids.
D. Karall,
K. Stock,
V. Konstantopoulou,
2020,
Orphanet Journal of Rare Diseases.
S. Felber,
E. Trinka,
L. Zimmerhackl,
2004
.
D. Karall,
E. Haberlandt,
M. Baumann,
2020,
JIMD reports.
B. Plecko,
D. Karall,
W. Sperl,
2015,
Orphanet Journal of Rare Diseases.
W. Schobersberger,
D. Karall,
S. Scholl‐Bürgi,
2014,
JIMD reports.
M. Baumgartner,
R. Lachmann,
E. Rodrigues,
2015,
Journal of Inherited Metabolic Disease.
D. Fuchs,
D. Karall,
S. Schroecksnadel,
2011
.
U. Kiechl‐Kohlendorfer,
A. Posod,
E. Griesmaier,
2017,
Pediatric Research.
H. Prokisch,
T. Haack,
S. Boesch,
2020,
European journal of medical genetics.
M. Keller,
J. Zschocke,
D. Karall,
2022
.
J. Martignetti,
L. Botto,
S. Scholl‐Bürgi,
2020,
Frontiers in Physiology.
M. Hersberger,
H. Ulmer,
T. Coşkun,
2016,
Journal of Inherited Metabolic Disease.
D. Karall,
S. Baumgartner-Sigl,
G. Ramoser,
2019,
Acta paediatrica.
A. Janecke,
T. Müller,
N. Neu,
2008,
Journal of pediatric gastroenterology and nutrition.
D. Karall,
B. Fimm,
Nikola Zieren,
2010,
Developmental medicine and child neurology.
W. Löscher,
S. Wortmann,
B. Plecko,
2021,
Journal of inherited metabolic disease.
A. Griesmacher,
M. Knoflach,
R. Geiger,
2023,
Frontiers in Cardiovascular Medicine.
C. Salvador,
D. Karall,
R. Geiger,
2020,
Scientific Reports.
M. Baumgartner,
I. Harting,
B. Plecko,
2022,
Journal of inherited metabolic disease.
K. Laser,
K. Dubowy,
M. Michel,
2022,
Frontiers in Cardiovascular Medicine.
K. Rostásy,
D. Karall,
E. Haberlandt,
2010,
Pediatric neurology.
S. Wortmann,
B. Plecko,
D. Karall,
2021,
Orphanet Journal of Rare Diseases.
T. Müller,
H. Ellemunter,
P. Heinz-Erian,
2016,
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.
M. Keller,
J. Zschocke,
D. Karall,
2022,
Cellular and Molecular Life Sciences.
G. Widmann,
R. Bale,
D. Karall,
2014,
CardioVascular and Interventional Radiology.
M. Baumgartner,
M. Gautschi,
M. Landolt,
2022,
Molecular genetics and metabolism reports.
A. Kautzky-Willer,
B. Plecko,
D. Karall,
2021,
Molecular genetics and metabolism.
M. Baumgartner,
M. Landolt,
S. Kölker,
2017,
JIMD reports.
S. Waldegger,
T. Mueller,
P. Heinz-Erian,
2015,
Klinische Pädiatrie.
K. Rostásy,
J. Häberle,
D. Karall,
2008,
Journal of Inherited Metabolic Disease.
J. Gostner,
H. Ulmer,
S. Geisler,
2018,
Therapeutic advances in respiratory disease.
D. Karall,
M. Michel,
S. Scholl-Bürgi,
2023,
Metabolites.
K. Rostásy,
D. Karall,
C. Ebenbichler,
2008,
Epilepsia.
John H. Neumeister,
T. Giese,
C. Sergi,
2011,
BMC infectious diseases.
N. Baena,
G. Antiñolo,
S. Gökben,
2017,
Scientific Reports.
D. Karall,
I. Odri Komazec,
T. Karall,
2021,
Neuropediatrics.
D. Karall,
D. Mihic-Probst,
E. Haberlandt,
2019,
Modern Pathology.
C. Wouters,
Y. Crow,
L. Adès,
2016,
Journal of Clinical Immunology.
K. Unterkofler,
A. Dzien,
W. Miekisch,
2009,
Journal of breath research.
G. Francis,
Qian Wang,
D. Gaudet,
2021,
Lancet.
P. Tanpaiboon,
A. Skouma,
M. Brouwers,
2024,
Frontiers in Genetics.
D. Karall,
K. Laser,
K. Dubowy,
2024,
International journal of molecular sciences.