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Suter, Aude‐Annick
9
results:
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Online (9)
Mediatypes
Articles (Online) (4)
OpenAccess-fulltext (5)
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1
Next-generation phenotyping integrated in a national framew..:
Schmidt, Axel
;
Danyel, Magdalena
;
Grundmann, Kathrin
...
Nature Genetics. , 2024
Link:
https://doi.org/10.1038/..
?
2
DPF2-related Coffin-Siris syndrome type 7 in two generation:
Kolokotronis, Konstantinos
;
Suter, Aude-Annick
;
Ivanovski, Ivan
...
European Journal of Medical Genetics. 69 (2024) - p. 104945 , 2024
Link:
https://doi.org/10.1016/..
?
3
Variable pulmonary manifestations in Chitayat syndrome: Six..:
Suter, Aude‐Annick
;
Santos‐Simarro, Fernando
;
Toerring, Pernille Mathiesen
...
American Journal of Medical Genetics Part A. 182 (2020) 9 - p. 2068-2076 , 2020
Link:
https://doi.org/10.1002/..
?
4
Rothmund–Thomson Syndrome: novel pathogenic mutations and f..:
Suter, Aude‐Annick
;
Itin, Peter
;
Heinimann, Karl
...
Molecular Genetics & Genomic Medicine. 4 (2016) 3 - p. 359-366 , 2016
Link:
https://doi.org/10.1002/..
?
5
Genetic Analysis in a Swiss Cohort of Bilateral Congenital ..:
Rechsteiner, Delia
;
Issler, Lydia
;
Koller, Samuel
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8138751/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
6
Variable pulmonary manifestations in Chitayat syndrome: Six..:
Suter, Aude‐Annick
;
Santos‐Simarro, Fernando
;
Toerring, Pernille Mathiesen
...
https://refubium.fu-berlin.de/handle/fub188/33592. , 2020
Link:
https://refubium.fu-berl..
?
7
Rothmund-Thomson Syndrome:novel pathogenic mutations and fr..:
Suter, Aude-Annick
;
Itin, Peter
;
Heinimann, Karl
...
https://pure.au.dk/portal/en/publications/e11396e5-f4e5-499c-9653-bd3f34f602e1. , 2016
Link:
https://pure.au.dk/porta..
?
8
Rothmund-Thomson Syndrome: novel pathogenic mutations and f..:
Suter, Aude-Annick
;
Itin, Peter
;
Heinimann, Karl
...
https://boris.unibe.ch/93427/. , 2016
Link:
https://boris.unibe.ch/9..
?
9
Rothmund–Thomson Syndrome: novel pathogenic mutations and f..:
Suter, Aude‐Annick
;
Itin, Peter
;
Heinimann, Karl
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867568/. , 2016
Link:
http://www.ncbi.nlm.nih...
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