I agree that this site is using cookies. You can find further informations here.
X
Cueto-Gonzalez, Anna Maria
140  results:
Search for persons X
?
1

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/..
 
?
2

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/..
 
?
3

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/..
 
?
4

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/..
 
?
5

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/..
 
?
6

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/..
 
?
7

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

van der Sluijs, Pleuntje J ; Joosten, Marieke ; Alby, Caroline...
https://pure.au.dk/portal/en/publications/511d577d-771f-4c3e-ad2f-c6f57f9f3cf6.  , 2022
Link: https://pure.au.dk/porta..
 
?
8

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

van der Sluijs, Pleuntje ; Joosten, Marieke ; Alby, Caroline...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.04.010.  , 2022
Link: https://univ-rennes.hal...
 
?
9

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

van der Sluijs, Pleuntje ; Joosten, Marieke ; Alby, Caroline...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.04.010.  , 2022
Link: https://univ-rennes.hal...
 
?
10

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

van der Sluijs, Pleuntje J ; Joosten, Marieke ; Alby, Caroline...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9378544/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
?
11

Natural history of KBG syndrome in a large European cohort:

Loberti, Lorenzo ; Bruno, Lucia Pia ; Granata, Stefania...
info:eu-repo/semantics/altIdentifier/pmid/35861666.  , 2022
Link: https://hdl.handle.net/1..
 
?
12

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

van der Sluijs, Pleuntje ; Joosten, Marieke ; Alby, Caroline...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.04.010.  , 2022
Link: https://univ-rennes.hal...
 
?
13

Missense variants in 22 males with intellectual disability:..:

Maia, Nuno ; Ibarluzea, Nekane ; Misra-Isrie, Mala...
American Journal Of Medical Genetics Part A. -191 : 1 (2022), p. 135-143. -Am. J. Med. Genet. A. - 1552-4825.  , 2022
Link: https://hdl.handle.net/2..
 
?
14

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

van der Sluijs, Pleuntje ; Joosten, Marieke ; Alby, Caroline...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.04.010.  , 2022
Link: https://univ-rennes.hal...
 
?
15

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

van der Sluijs, Pleuntje ; Joosten, Marieke ; Alby, Caroline...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.04.010.  , 2022
Link: https://univ-rennes.hal...
 
1-15