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Preisel, Martin
25
results:
Search for persons
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Format
Online (25)
Mediatypes
Articles (Online) (10)
OpenAccess-fulltext (15)
Languages
english (24)
german (1)
Sorted by: Relevance
Sorted by: Year
?
1
Blood parameters in pediatric myelin oligodendrocyte glycop..:
Peternell, Alina
;
Lechner, Christian
;
Breu, Markus
...
European Journal of Paediatric Neurology. 50 (2024) - p. 86-95 , 2024
Link:
https://doi.org/10.1016/..
?
2
Natural History and Developmental Trajectories of Individua..:
Thalwitzer, Kim M.
;
Driedger, Jan H.
;
Xian, Julie
...
Neurology. 101 (2023) 9 - p. , 2023
Link:
https://doi.org/10.1212/..
?
3
Case Report—An Inherited Loss-of-Function NRXN3 Variant Pot..:
Feichtinger, René G.
;
Preisel, Martin
;
Brugger, Karin
..
Genes. 14 (2023) 6 - p. 1217 , 2023
Link:
https://doi.org/10.3390/..
?
4
A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and R..:
Feichtinger, René G.
;
Preisel, Martin
;
Steinbrücker, Katja
...
Genes. 13 (2022) 12 - p. 2191 , 2022
Link:
https://doi.org/10.3390/..
?
5
Glutaric Aciduria Type I Missed by Newborn Screening: Repor..:
Spenger, Johannes
;
Maier, Esther
;
Wechselberger, Katharina
...
International Journal of Neonatal Screening. 7 (2021) 2 - p. 32 , 2021
Link:
https://doi.org/10.3390/..
?
6
Heterozygous truncating variants in SUFU cause congenital o..:
Schröder, Simone
;
Li, Yun
;
Yigit, Gökhan
...
Genetics in Medicine. 23 (2021) 2 - p. 341-351 , 2021
Link:
https://doi.org/10.1038/..
?
7
Correction: Spenger et al. Glutaric Aciduria Type I Missed ..:
Spenger, Johannes
;
Maier, Esther M.
;
Wechselberger, Katharina
...
International Journal of Neonatal Screening. 8 (2021) 1 - p. 2 , 2021
Link:
https://doi.org/10.3390/..
?
8
Next-Generation-Sequenzierung – Next-Generation-Qualität in..:
Wortmann, Saskia B.
;
Spenger, Johannes
;
Preisel, Martin
...
Pädiatrie & Pädologie. 53 (2018) 6 - p. 278-283 , 2018
Link:
https://doi.org/10.1007/..
?
9
Positive troponin T without cardiac involvement in inclusio..:
Schwarzmeier, Josef D.
;
Hamwi, Ahmad
;
Preisel, Martin
...
Human Pathology. 36 (2005) 8 - p. 917-921 , 2005
Link:
https://doi.org/10.1016/..
?
10
PSMC3 proteasome subunit variants are associated with neuro..:
Ebstein, Frédéric
;
Küry, Sébastien
;
Most, Victoria
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10506367/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
11
Case Report—An Inherited Loss-of-Function NRXN3 Variant Pot..:
Feichtinger, René G
;
Preisel, Martin
;
Brugger, Karin
..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298052/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
12
A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and R..:
Feichtinger, René G
;
Preisel, Martin
;
Steinbrücker, Katja
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778592/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
13
Glutaric Aciduria Type I Missed by Newborn Screening: Repor..:
Spenger, Johannes
;
Maier, Esther M
;
Wechselberger, Katharina
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8293111/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
14
Correction: Spenger et al. Glutaric Aciduria Type I Missed ..:
Spenger, Johannes
;
Maier, Esther M
;
Wechselberger, Katharina
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8788418/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
15
Heterozygous truncating variants in SUFU cause congenital o..:
Schröder, Simone
;
Li, Yun
;
Yigit, Gökhan
...
EXC 2067: Multiscale Bioimaging. , 2020
Link:
https://resolver.sub.uni..
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