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Kutsche, Kerstin
181
results:
Search for persons
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Format
Online (180)
Print (1)
Mediatypes
Articles (Online) (97)
Articles (Print) (1)
OpenAccess-fulltext (76)
Thesis (Online) (7)
Languages
german (7)
english (169)
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1
Loss of TBC1D2B causes a progressive neurological disorder ..:
Harms, Frederike L.
;
Rexach, Jessica Erin
;
Efthymiou, Stephanie
...
European Journal of Human Genetics. 32 (2024) 5 - p. 558-566 , 2024
Link:
https://doi.org/10.1038/..
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2
Novel biallelic PISD missense variants cause spondyloepimet..:
Aagaard Nolting, Line
;
Holling, Tess
;
Nishimura, Gen
...
Clinical Genetics. , 2024
Link:
https://doi.org/10.1111/..
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3
INPP4A-related genetic and phenotypic spectrum and function..:
Hecher, Laura
;
Harms, Frederike L.
;
Lisfeld, Jasmin
...
neurogenetics. 24 (2023) 2 - p. 79-93 , 2023
Link:
https://doi.org/10.1007/..
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4
De novo PHF5A variants are associated with craniofacial abn..:
Harms, Frederike L.
;
Dingemans, Alexander J.M.
;
Hempel, Maja
...
Genetics in Medicine. 25 (2023) 10 - p. 100927 , 2023
Link:
https://doi.org/10.1016/..
?
5
TMCO3, a Putative K+:Proton Antiporter at the Golgi Apparat..:
Holling, Tess
;
Brylka, Laura
;
Scholz, Tasja
...
Journal of Bone and Mineral Research. 38 (2023) 9 - p. 1334-1349 , 2023
Link:
https://doi.org/10.1002/..
?
6
Craniofacial dysmorphism, skeletal anomalies, and impaired ..:
Abdelrazek, Ibrahim M.
;
Holling, Tess
;
Harms, Frederike L.
...
European Journal of Medical Genetics. 66 (2023) 3 - p. 104715 , 2023
Link:
https://doi.org/10.1016/..
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7
Two newly identified CACNA1I variants linked to neurodevelo..:
El Ghaleb, Yousra
;
Fernandez-Quintero, Monica L.
;
Campiglio, Marta
...
Biophysical Journal. 122 (2023) 3 - p. 107a , 2023
Link:
https://doi.org/10.1016/..
?
8
De novo PHF5A variants are associated with craniofacial abn..:
Harms, Frederike L.
;
Dingemans, Alexander J.M.
;
Hempel, Maja
...
Genetics in Medicine. 25 (2023) 11 - p. 100964 , 2023
Link:
https://doi.org/10.1016/..
?
9
Biallelic CACNA2D1 loss-of-function variants cause early-on..:
Dahimene, Shehrazade
;
von Elsner, Leonie
;
Holling, Tess
...
Brain. 145 (2022) 8 - p. 2721-2729 , 2022
Link:
https://doi.org/10.1093/..
?
10
A homozygous hypomorphicBNIP1variant causes an increase in ..:
Holling, Tess
;
Bhavani, Gandham S.
;
Elsner, Leonie
...
Human Mutation. 43 (2022) 5 - p. 625-642 , 2022
Link:
https://doi.org/10.1002/..
?
11
Novel biallelic variants expand the SLC5A6-related phenotyp..:
Holling, Tess
;
Nampoothiri, Sheela
;
Tarhan, Bedirhan
...
European Journal of Human Genetics. 30 (2022) 4 - p. 439-449 , 2022
Link:
https://doi.org/10.1038/..
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12
Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain..:
Bauer, Christiane K.
;
Holling, Tess
;
Horn, Denise
...
International Journal of Molecular Sciences. 23 (2022) 17 - p. 9690 , 2022
Link:
https://doi.org/10.3390/..
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13
Regulation of Liprin-α phase separation by CASK is disrupte..:
Tibbe, Debora
;
Ferle, Pia
;
Krisp, Christoph
...
Life Science Alliance. 5 (2022) 10 - p. e202201512 , 2022
Link:
https://doi.org/10.26508..
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14
Autosomal dominantly inherited myopathy likely caused by th..:
Holling, Tess
;
Lisfeld, Jasmin
;
Johannsen, Jessika
...
Human Mutation. 43 (2022) 9 - p. 1224-1233 , 2022
Link:
https://doi.org/10.1002/..
?
15
Cardiofacioneurodevelopmental syndrome: Report of a novel p..:
Abdalla, Ebtesam
;
Alawi, Malik
;
Meinecke, Peter
..
American Journal of Medical Genetics Part A. 188 (2022) 8 - p. 2448-2453 , 2022
Link:
https://doi.org/10.1002/..
1-15