U. Kotzaeridou
发表
T. Wieland,
T. Meitinger,
T. Strom,
2014,
Molecular genetics and metabolism.
R. Eils,
M. Schlesner,
P. Bauer,
2015,
Molecular and cellular probes.
T. Meitinger,
T. Strom,
H. Prokisch,
2019,
JIMD reports.
Rates and social patterning of household smoking and breastfeeding in contrasting European settings.
N. Spencer,
U. Kotzaeridou,
C. Mouratidis,
2005,
Child: care, health and development.
Rebecca C. Spillmann,
N. Guex,
J. Rosenfeld,
2020,
bioRxiv.
S. Antonarakis,
A. Takata,
N. Matsumoto,
2020,
Human mutation.
A. Vanderver,
R. Schiffmann,
R. Carrozzo,
2021,
Genetics in Medicine.
C. Klein,
U. Kotzaeridou,
D. Ebrahimi-Fakhari,
2014,
Neurology.
K.,
Stevens,
A. Vanderver,
2020,
The Journal of clinical endocrinology and metabolism.
B. Burton,
Katherine H Kim,
W. Dobyns,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
Robert W. Taylor,
T. Wieland,
I. Harting,
2016,
Journal of Inherited Metabolic Disease.
Robert W. Taylor,
I. Harting,
T. Meitinger,
2018,
Genetics in Medicine.
J. Lupski,
R. Gibbs,
S. Jhangiani,
2022,
American journal of human genetics.
Michaela Frye,
Richard Durbin,
Holger Prokisch,
2016,
Nature Communications.
T. Meitinger,
T. Strom,
R. Jech,
2021,
Clinical genetics.
Roland Eils,
Stefan Wiemann,
Ute Moog,
2017,
Molecular genetics and metabolism.
S. Scherer,
N. Brown,
R. Yuen,
2019,
Brain : a journal of neurology.
T. Meitinger,
T. Strom,
R. Rodenburg,
2019
.
P. De Camilli,
H. Cross,
Matteo P. Ferla,
2021,
Brain : a journal of neurology.
T. Huisman,
D. Prayer,
C. Limperopoulos,
2009,
Developmental medicine and child neurology.
Robert W. Taylor,
I. Harting,
T. Meitinger,
2018,
Genetics in Medicine.
I. Katona,
T. Hornemann,
B. Schlotter-Weigel,
2017,
Journal of neurochemistry.
J. Rosenfeld,
J. Lupski,
D. Horn,
2020,
Genetics in Medicine.
Thomas Meitinger,
Julien Gagneur,
Holger Prokisch,
2015,
American journal of human genetics.
M. Carl,
I. Harting,
T. Meitinger,
2016,
American journal of human genetics.
J. Gécz,
W. Chung,
H. Hakonarson,
2021,
American journal of human genetics.
T. Meitinger,
T. Strom,
R. Rodenburg,
2018,
European Journal of Human Genetics.
Robert W. Taylor,
Vicente A. Yépez,
J. Gagneur,
2021,
medRxiv.
R. Pfundt,
D. Baralle,
I. Thiffault,
2022,
American journal of human genetics.
J. Rosenfeld,
J. Lupski,
D. Horn,
2020,
Genetics in Medicine.
Robert W. Taylor,
C. Ross,
W. Wasserman,
2018,
Molecular genetics and metabolism.
I. Harting,
M. Bendszus,
A. Poretti,
2011,
American Journal of Neuroradiology.
A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly
S. Gallati,
A. Schaller,
A. Haeberli,
2016,
European Journal of Pediatrics.
I. Harting,
T. Strom,
V. Kalscheuer,
2020,
Clinical genetics.
Robert W. Taylor,
R. Durbin,
T. Wieland,
2015,
Annals of clinical and translational neurology.
C. Gieger,
M. Waldenberger,
A. Peters,
2021,
Brain : a journal of neurology.
E. Reischl,
B. Koletzko,
P. Burgard,
2018,
Nutrients.
P. J. van der Spek,
J. Hoeijmakers,
W. Vermeulen,
2017,
Human molecular genetics.
Heinen,
Heiko,
Kehrer,
2023,
medRxiv.
C. Ross,
W. Wasserman,
H. Prokisch,
2018,
Molecular genetics and metabolism.
L. Arning,
F. Ebinger,
N. Wolf,
2008
.
T. Meitinger,
T. Strom,
R. Rodenburg,
2018,
European Journal of Human Genetics.
A. Covanis,
G. Arsos,
U. Kotzaeridou,
2002,
Epileptic disorders : international epilepsy journal with videotape.
M. Minczuk,
M. Frye,
Y. Memari,
2022
.
P. Striano,
F. Zara,
M. Severino,
2023,
Pediatric neurology.
T. Wieland,
T. Meitinger,
T. Strom,
2014,
Molecular genetics and metabolism.
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
H. Kayserili,
G. Bademci,
A. Bertoli-Avella,
2024,
Nature communications.