E-LIB Suche - Ergebnisse für: Gonzalez, Anna Maria Cueto

1

Extending the phenotypes associated with TRIO gene variants..:

Gazdagh, Gabriella ; Hunt, David ; Gonzalez, Anna Maria Cueto...
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1722-1740 , 2023

Link: https://doi.org/10.1002/..

2

Extending the phenotypes associated with TRIO gene variants..:

Gazdagh, Gabriella ; Hunt, David ; Gonzalez, Anna Maria Cueto...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.63194. , 2023

Link: https://hal.science/hal-..

3

Extending the phenotypes associated with TRIO gene variants..:

Gazdagh, Gabriella ; Hunt, David ; Gonzalez, Anna Maria Cueto...
https://eprints.soton.ac.uk/477429/1/TRIO_phenotype_manuscript_revised_clean_08032023_1.docx. , 2023

Link: https://eprints.soton.ac..

4

Extending the phenotypes associated with TRIO gene variants..:

Gazdagh, Gabriella ; Hunt, David ; Gonzalez, Anna Maria Cueto...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.63194. , 2023

Link: https://hal.science/hal-..

5

Extending the phenotypes associated with TRIO gene variants..:

Gazdagh, Gabriella ; Hunt, David ; Gonzalez, Anna Maria Cueto...
https://research.rug.nl/en/publications/96a43340-afc2-4f66-80b1-4245427a4e73. , 2023

Link: https://hdl.handle.net/1..

6

Extending the phenotypes associated with TRIO gene variants..:

Gazdagh, Gabriella ; Hunt, David ; Gonzalez, Anna Maria Cueto...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.63194. , 2023

Link: https://hal.science/hal-..

7

Extending the phenotypes associated with TRIO gene variants..:

Gazdagh, Gabriella ; Hunt, David ; Gonzalez, Anna Maria Cueto...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.63194. , 2023

Link: https://hal.science/hal-..

8

Extending the phenotypes associated with TRIO gene variants..:

Gazdagh, Gabriella ; Hunt, David ; Gonzalez, Anna Maria Cueto...
American Journal of Medical Genetics. Part A, 1552-4825, 2023, 191:7, s. 1722-1740. , 2023

Link: http://urn.kb.se/resolve..

9

Discovering a new part of the phenotypic spectrum of Coffin..:

van der Sluijs, Pleuntje J. ; Joosten, Marieke ; Alby, Caroline...
Genetics in Medicine. 25 (2023) 2 - p. 100004 , 2023

Link: https://doi.org/10.1016/..

10

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/..

11

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/..

12

Discovering a new part of the phenotypic spectrum of Coffin..:

van der Sluijs, Pleuntje J. ; Joosten, Marieke ; Alby, Caroline...
Genetics in Medicine. 24 (2022) 8 - p. 1753-1760 , 2022

Link: https://doi.org/10.1016/..

13

Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic..:

Santos-Simarro, Fernando ; Pacio, Marta ; Cueto-González, Anna María...
European Journal of Medical Genetics. 64 (2021) 11 - p. 104338 , 2021

Link: https://doi.org/10.1016/..

14

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initiall..:

Urreizti, Roser ; Cueto-Gonzalez, Anna Maria ; Franco-Valls, Héctor...
Scientific Reports. 7 (2017) 1 - p. , 2017

Link: https://doi.org/10.1038/..

15

Mechanism of KMT5B haploinsufficiency in neurodevelopment i..:

Sheppard, Sarah E ; Bryant, Laura ; Wickramasekara, Rochelle...
Science Advances;9(10). , 2023

Link: https://hdl.handle.net/1..