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Cremer, Kirsten
113
results:
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Online (113)
Mediatypes
Articles (Online) (46)
OpenAccess-fulltext (67)
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english (102)
german (4)
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?
1
A syndromic neurodevelopmental disorder caused by rare vari..:
Paul, Maimuna S.
;
Michener, Sydney L.
;
Pan, Hongling
...
The American Journal of Human Genetics. 111 (2024) 4 - p. 805 , 2024
Link:
https://doi.org/10.1016/..
?
2
A syndromic neurodevelopmental disorder caused by rare vari..:
Paul, Maimuna S.
;
Michener, Sydney L.
;
Pan, Hongling
...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1239 , 2024
Link:
https://doi.org/10.1016/..
?
3
A syndromic neurodevelopmental disorder caused by rare vari..:
Paul, Maimuna S.
;
Michener, Sydney L.
;
Pan, Hongling
...
The American Journal of Human Genetics. 111 (2024) 1 - p. 96-118 , 2024
Link:
https://doi.org/10.1016/..
?
4
Hemizygous variants in protein phosphatase 1 regulatory sub..:
Liu, Zhigang
;
Xin, Baozhong
;
Smith, Iris N
...
Human Molecular Genetics. 32 (2023) 20 - p. 2981-2995 , 2023
Link:
https://doi.org/10.1093/..
?
5
BRAT1–related disorders: phenotypic spectrum and phenotype-..:
Engel, Camille
;
Valence, Stéphanie
;
Delplancq, Geoffroy
...
European Journal of Human Genetics. , 2023
Link:
https://doi.org/10.1038/..
?
6
Variants in FGF10 cause early onset of severe childhood int..:
Schütz, Katharina
;
Schmidt, Axel
;
Schwerk, Nicolaus
...
Pediatric Pulmonology. 58 (2023) 11 - p. 3095-3105 , 2023
Link:
https://doi.org/10.1002/..
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7
Next‐generation phenotyping contributing to the identificat..:
Brand, Fabian
;
Vijayananth, Aswinkumar
;
Hsieh, Tzung‐Chien
...
Human Mutation. 43 (2022) 11 - p. 1659-1665 , 2022
Link:
https://doi.org/10.1002/..
?
8
Adult‐Onset Neurodegeneration in Nucleotide Excision Repair..:
Cordts, Isabell
;
Önder, Demet
;
Traschütz, Andreas
...
Movement Disorders. 37 (2022) 8 - p. 1707-1718 , 2022
Link:
https://doi.org/10.1002/..
?
9
Catch them if you are aware: PTEN postzygotic mosaicism in ..:
Hendricks, Linda A.J.
;
Schuurs-Hoeijmakers, Janneke
;
Spier, Isabel
...
European Journal of Medical Genetics. 65 (2022) 7 - p. 104533 , 2022
Link:
https://doi.org/10.1016/..
?
10
Pathogenic SPTBN1 variants cause an autosomal dominant neur..:
Cousin, Margot A.
;
Creighton, Blake A.
;
Breau, Keith A.
...
Nature Genetics. 53 (2021) 7 - p. 1006-1021 , 2021
Link:
https://doi.org/10.1038/..
?
11
New insights into the clinical and molecular spectrum of th..:
Begemann, Anaïs
;
Sticht, Heinrich
;
Begtrup, Amber
...
Genetics in Medicine. 23 (2021) 3 - p. 543-554 , 2021
Link:
https://doi.org/10.1038/..
?
12
Nine newly identified individuals refine the phenotype asso..:
Windheuser, Isabelle C.
;
Becker, Jessica
;
Cremer, Kirsten
...
American Journal of Medical Genetics Part A. 182 (2020) 5 - p. 1021-1031 , 2020
Link:
https://doi.org/10.1002/..
?
13
KCNC1‐related disorders: new de novo variants expand the ph..:
Park, Joohyun
;
Koko, Mahmoud
;
Hedrich, Ulrike B. S.
...
Annals of Clinical and Translational Neurology. 6 (2019) 7 - p. 1319-1326 , 2019
Link:
https://doi.org/10.1002/..
?
14
PEDIA: prioritization of exome data by image analysis:
Hsieh, Tzung-Chien
;
Mensah, Martin A.
;
Pantel, Jean T.
...
Genetics in Medicine. 21 (2019) 12 - p. 2807-2814 , 2019
Link:
https://doi.org/10.1038/..
?
15
De novo FBXO11 mutations are associated with intellectual d..:
Fritzen, Daniel
;
Kuechler, Alma
;
Grimmel, Mona
...
Human Genetics. 137 (2018) 5 - p. 401-411 , 2018
Link:
https://doi.org/10.1007/..
1-15