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Lasa-Aranzasti, Amaia
62
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Online (62)
Mediatypes
Articles (Online) (11)
OpenAccess-fulltext (51)
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1
A novel FAM83G variant from palmoplantar keratoderma patien..:
Glennie, Lorraine
;
Solà, Marta Codina
;
Xunclà, Mar
...
Open Biology. 14 (2024) 7 - p. , 2024
Link:
https://doi.org/10.1098/..
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2
Delineation of the adult phenotype of Coffin–Siris syndrome..:
Schmetz, Ariane
;
Lüdecke, Hermann-Josef
;
Surowy, Harald
...
Human Genetics. 143 (2023) 1 - p. 71-84 , 2023
Link:
https://doi.org/10.1007/..
?
3
Functional Insight into and Refinement of the Genomic Bound..:
van der Laan, Liselot
;
Rooney, Kathleen
;
Haghshenas, Sadegheh
...
International Journal of Molecular Sciences. 24 (2023) 18 - p. 14240 , 2023
Link:
https://doi.org/10.3390/..
?
4
Missense variants in ANKRD11 cause KBG syndrome by impairme..:
de Boer, Elke
;
Ockeloen, Charlotte W.
;
Kampen, Rosalie A.
...
Genetics in Medicine. 25 (2023) 11 - p. 100962 , 2023
Link:
https://doi.org/10.1016/..
?
5
Missense variants in ANKRD11 cause KBG syndrome by impairme..:
de Boer, Elke
;
Ockeloen, Charlotte W.
;
Kampen, Rosalie A.
...
Genetics in Medicine. 24 (2022) 10 - p. 2051-2064 , 2022
Link:
https://doi.org/10.1016/..
?
6
16q12.2q21 deletion: A newly recognized cause of dystonia r..:
Lasa-Aranzasti, Amaia
;
Cazurro-Gutiérrez, Ana
;
Bescós, Agustín
...
Parkinsonism & Related Disorders. 103 (2022) - p. 112-114 , 2022
Link:
https://doi.org/10.1016/..
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7
Correspondence on "Loss-of-function and missense variants i..:
Cueto-González, Anna Ma.
;
Fernández-Álvarez, Paula
;
Palafoll, Irene Valenzuela
...
Genetics in Medicine. 24 (2022) 3 - p. 754-756 , 2022
Link:
https://doi.org/10.1016/..
?
8
Natural history of KBG syndrome in a large European cohort:
Loberti, Lorenzo
;
Bruno, Lucia Pia
;
Granata, Stefania
...
Human Molecular Genetics. 31 (2022) 24 - p. 4131-4142 , 2022
Link:
https://doi.org/10.1093/..
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9
An spanish study of secondary findings in families affected..:
Codina-Solà, Marta
;
Trujillano, Laura
;
Abulí, Anna
...
European Journal of Human Genetics. 31 (2022) 2 - p. 223-230 , 2022
Link:
https://doi.org/10.1038/..
?
10
Perturbed hematopoiesis in individuals with germline DNMT3A..:
Tovy, Ayala
;
Rosas, Carina
;
Gaikwad, Amos S.
...
Haematologica. 107 (2021) 4 - p. 887-898 , 2021
Link:
https://doi.org/10.3324/..
?
11
Leigh syndrome associated with TRMU gene mutations:
Sala-Coromina, Júlia
;
Miguel, Lucía Dougherty-de
;
de las Heras, Javier
...
Molecular Genetics and Metabolism Reports. 26 (2021) - p. 100690 , 2021
Link:
https://doi.org/10.1016/..
?
12
GestaltMatcher Database - A global reference for facial phe..:
Hsieh, Tzung-Chien
;
Lesmann, Hellen
;
Hustinx, Alexander
...
https://pure.eur.nl/en/publications/4292a019-4578-4cc0-aeab-58f7f92e1eab. , 2024
Link:
https://pure.eur.nl/en/p..
?
13
Correction Missense variants in ANKRD11 cause KBG syndrome ..:
de Boer, Elke
;
Ockeloen, Charlotte W
;
Kampen, Rosalie A
...
https://cris.maastrichtuniversity.nl/en/publications/a6b6fb35-3a62-45e5-8dcb-13d03a86fcf8. , 2023
Link:
https://cris.maastrichtu..
?
14
Functional Insight into and Refinement of the Genomic Bound..:
van der Laan, Liselot
;
Rooney, Kathleen
;
Haghshenas, Sadegheh
...
https://research.vumc.nl/en/publications/d9130695-6c73-4fd2-a596-371529c54b8d. , 2023
Link:
https://research.vumc.nl..
?
15
Functional Insight into and Refinement of the Genomic Bound..:
van der Laan, Liselot
;
Rooney, Kathleen
;
Haghshenas, Sadegheh
...
International Journal of Molecular Sciences;24(18). , 2023
Link:
https://hdl.handle.net/1..
1-15