T. Gardeitchik
发表
J. Schuurs-Hoeijmakers,
J. Veltman,
W. Kloosterman,
2012,
Nature Genetics.
H. Brunner,
R. Wevers,
M. Parker,
2013,
European Journal of Human Genetics.
S. Mundlos,
H. Kayserili,
M. Kabra,
2012
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S. Mundlos,
H. Kayserili,
M. Kabra,
2012,
Human Genetics.
G. Schaaf,
M. V. van Slegtenhorst,
M. Wessels,
2019,
Circulation. Genomic and precision medicine.
J. Timmermans,
M. Kempers,
D. Micha,
2018,
Journal of Medical Genetics.
R. Pfundt,
S. Mehta,
M. Roselló,
2017,
European Journal of Human Genetics.
E. Morava,
R. Rodenburg,
C. Verhaak,
2010,
Mitochondrion.
R. Pfundt,
M. Reijnders,
G. Meister,
2020,
Nature Communications.
E. Morava,
D. Lefeber,
T. Gardeitchik,
2014,
Pediatric dermatology.
G. Matthijs,
R. Wevers,
S. Wortmann,
2011,
Biochimica et biophysica acta.
A. Hoischen,
T. Meitinger,
T. Strom,
2017,
American Journal of Human Genetics.
H. Freeze,
M. Patterson,
Christina Lam,
2019,
Journal of inherited metabolic disease.
A. Kariminejad,
E. Morava,
F. Mojahedi,
2017,
International journal of molecular sciences.
L. Kluijtmans,
R. Wevers,
E. Morava,
2013,
Journal of Inherited Metabolic Disease.
N. de Leeuw,
E. Morava,
L. Nijtmans,
2012,
American journal of medical genetics. Part A.
R. Wevers,
E. Morava,
J. Häberle,
2011,
American journal of medical genetics. Part A.
MKL1 deficiency results in a severe neutrophil motility defect due to impaired actin polymerization.
T. K. van den Berg,
T. Kuijpers,
H. Janssen,
2020,
Blood.
S. Mundlos,
H. Kayserili,
M. Kabra,
2012,
Human Genetics.
R. Wevers,
U. Kornak,
E. Morava,
2011,
Journal of Inherited Metabolic Disease.
A. Boneh,
T. Gardeitchik,
J. Nation,
2012,
The Journal of pediatrics.
S. Scherer,
L. Vissers,
R. Pfundt,
2021,
American journal of human genetics.
R. Pfundt,
A. Hamosh,
M. Broly,
2020,
Genetics in Medicine.
R. Pfundt,
K. Heimdal,
R. Hennekam,
2018,
American journal of medical genetics. Part A.
A. Hoischen,
T. Meitinger,
T. Strom,
2016
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S. Mundlos,
H. Kayserili,
D. Chitayat,
2013,
Molecular genetics and metabolism.
L. Vissers,
R. Pfundt,
N. de Leeuw,
2020,
Prenatal diagnosis.
A. Wagner,
R. Kuiper,
M. Ligtenberg,
2018,
Clinical Cancer Research.
Alexander Hoischen,
Arnold Munnich,
Ron A Wevers,
2018,
American journal of human genetics.
R. Wevers,
U. Kornak,
E. Morava,
2019
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R. Pfundt,
N. de Leeuw,
C. Gilissen,
2023,
European Journal of Human Genetics.
A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract
R. Wevers,
E. Morava,
T. Gardeitchik,
2014,
American journal of medical genetics. Part A.
R. Wevers,
S. Wortmann,
L. Al-Gazali,
2013,
American journal of medical genetics. Part A.
R. Wevers,
E. Morava,
E. Lim-Melia,
2014,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. Morava,
T. Gardeitchik,
Jeroen Wyckmans,
2018,
Pediatric clinics of North America.
A. Hoischen,
H. Venselaar,
R. Wevers,
2020,
Journal of inherited metabolic disease.
S. Wortmann,
E. Morava,
D. Lefeber,
2013,
JIMD reports.
J. Elson,
R. Wevers,
S. Wortmann,
2011,
Journal of Inherited Metabolic Disease.
M. Cowley,
T. Roscioli,
J. Christodoulou,
2017,
Journal of Inherited Metabolic Disease.
R. Pfundt,
S. Mehta,
M. Roselló,
2017,
European Journal of Human Genetics.
A. Hoischen,
T. Meitinger,
T. Strom,
2020,
American journal of human genetics.
E. Morava,
T. Gardeitchik,
M. Mohamed,
2020,
Archiv für Dermatologie und Syphilis.
R. Hennekam,
A. Verloes,
S. Mazoyer,
2016,
Clinical genetics.
A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract
R. Wevers,
E. Morava,
T. Gardeitchik,
2014,
American journal of medical genetics. Part A.
R. Wevers,
U. Kornak,
E. Morava,
2011,
Journal of Inherited Metabolic Disease.
R. Pfundt,
F. Kortüm,
C. Gilissen,
2024,
American journal of human genetics.
R. Wevers,
S. Wortmann,
L. Al-Gazali,
2013,
American journal of medical genetics. Part A.