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Lasa-Aranzasti, Amaia
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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..
 
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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..
 
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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..
 
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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..
 
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