Laura Vallmanya-Castilla
Madrid, MD 28029, Spain
Last Updated: 09/26/2026
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Found 12 publications
Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number.
Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
Published: March 22, 2023
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
Journal: Journal of medical genetics
Published: May 09, 2022
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
Journal: International journal of molecular sciences
Published: January 08, 2021
Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development.
Journal: Journal of clinical medicine
Published: January 31, 2020
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 13, 2019
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.
Journal: Orphanet journal of rare diseases
Published: October 18, 2019
Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
Journal: European journal of human genetics : EJHG
Published: September 04, 2019
Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.
Journal: American journal of medical genetics. Part A
Published: May 06, 2019
Case report of a child bearing a novel deleterious splicing variant in PIGT.
Journal: Medicine
Published: March 01, 2019
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
Journal: European journal of human genetics : EJHG
Published: October 23, 2018
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.
Journal: Clinical case reports
Published: December 22, 2017
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.
Journal: Scientific reports
Published: July 31, 2017
Showing 1-12 of 12
Last Updated: 09/26/2026