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Begemann, Anais
10
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1
Missense variants in ANO4 cause sporadic encephalopathic or..:
Yang, Fang
;
Begemann, Anais
;
Reichhart, Nadine
...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1184-1205 , 2024
Link:
https://doi.org/10.1016/..
?
2
Cover:
Grether, Anna
;
Ivanovski, Ivan
;
Russo, Martina
...
Molecular Genetics & Genomic Medicine. 11 (2023) 5 - p. , 2023
Link:
https://doi.org/10.1002/..
?
3
The current benefit of genome sequencing compared to exome ..:
Grether, Anna
;
Ivanovski, Ivan
;
Russo, Martina
...
Molecular Genetics & Genomic Medicine. 11 (2023) 5 - p. , 2023
Link:
https://doi.org/10.1002/..
?
4
A Xp22.11-p21.3 microdeletion in a three-generation family ..:
Begemann, Anaïs
;
Oneda, Beatrice
;
Baumer, Alessandra
...
European Journal of Medical Genetics. 65 (2022) 12 - p. 104628 , 2022
Link:
https://doi.org/10.1016/..
?
5
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/..
?
6
Spatially clustering de novo variants in CYFIP2, encoding t..:
Deciphering Developmental Disorders (DDD) Study
;
Zweier, Markus
;
Begemann, Anaïs
...
European Journal of Human Genetics. 27 (2019) 5 - p. 747-759 , 2019
Link:
https://doi.org/10.1038/..
?
7
Further corroboration of distinct functional features in SC..:
Begemann, Anaïs
;
Acuña, Mario A.
;
Zweier, Markus
...
Molecular Medicine. 25 (2019) 1 - p. , 2019
Link:
https://doi.org/10.1186/..
?
8
Biallelic UFM1 and UFC1 mutations expand the essential role..:
Nahorski, Michael S
;
Maddirevula, Sateesh
;
Ishimura, Ryosuke
...
Brain. 141 (2018) 7 - p. 1934-1945 , 2018
Link:
https://doi.org/10.1093/..
?
9
The role of recessive inheritance in early-onset epileptic ..:
Papuc, Sorina M.
;
Abela, Lucia
;
Steindl, Katharina
...
European Journal of Human Genetics. 27 (2018) 3 - p. 408-421 , 2018
Link:
https://doi.org/10.1038/..
?
10
The HHID syndrome of hypertrichosis, hyperkeratosis, abnorm..:
Zweier, Markus
;
Peippo, Maarit M.
;
Pöyhönen, Minna
...
American Journal of Medical Genetics Part A. 173 (2017) 5 - p. 1440-1443 , 2017
Link:
https://doi.org/10.1002/..
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