Laura Castilla-Vallmanya

Affiliations: 
Department of Genetics, Microbiology and Statistics Universitat de Barcelona, Barcelona, Cataluña, Spain 
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"Laura Castilla-Vallmanya"
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Publications

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Castilla-Vallmanya L, Gürsoy S, Giray-Bozkaya Ö, et al. (2021) and Mutations in a Highly Consanguineous Family. International Journal of Molecular Sciences. 22
Castilla-Vallmanya L, Selmer KK, Dimartino C, et al. (2020) Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genetics in Medicine : Official Journal of the American College of Medical Genetics
Benetó N, Cozar M, Castilla-Vallmanya L, et al. (2020) Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development. Journal of Clinical Medicine. 9
Urreizti R, Lopez-Martin E, Martinez-Monseny A, et al. (2020) Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum. Orphanet Journal of Rare Diseases. 15: 44
Leon E, Diaz J, Castilla-Vallmanya L, et al. (2019) Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies. American Journal of Medical Genetics. Part A
Urreizti R, Mayer K, Evrony GD, et al. (2019) Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. European Journal of Human Genetics : Ejhg
Urreizti R, Mayer K, Evrony GD, et al. (2019) DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. European Journal of Human Genetics : Ejhg
Mason S, Castilla-Vallmanya L, James C, et al. (2019) Case report of a child bearing a novel deleterious splicing variant in PIGT. Medicine. 98: e14524
Urreizti R, Gürsoy S, Castilla-Vallmanya L, et al. (2018) The mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome. Clinical Case Reports. 6: 1452-1456
Urreizti R, Damanti S, Esteve C, et al. (2018) A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome. Scientific Reports. 8: 694
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