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Ascensión Vera-Carbonell

Instituto de Salud Carlos III

8

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57

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Memoria de la actividad del Centro de Bioquímica y Genética Clínica (CBGC): año 2020

2021
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Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies

2015 American Journal of Medical Genetics Part A
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Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement.

2014 Genomics
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Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with san luis valley syndrome

2013 American Journal of Medical Genetics Part A
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Rapp–Hodgkin syndrome and SHFM1 patients: Delineating the p63–Dlx5/Dlx6 pathway

2012 Gene
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Molecular Characterization of a New Patient With a Non-Recurrent Inv Dup Del 2q and Review of the Mechanisms for This Rearrangement

2010 American Journal of Medical Genetics Part A
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Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes†

2009 American Journal of Medical Genetics Part A
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Citations (10)