Karen E. Heath
Hospital Universitario La Paz
59 papers found
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NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development
Download from doi.orgMolecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome
Download from www.researchgate.netSuprasellar Mass Mimicking A Hypothalamic Glioma In A Patient With A Complete PROP1 Deletion.
Download from www.researchgate.netClinical and molecular characterization of Chilean patients with Leri-Weill dyschondrosteosis
Download from www.researchgate.netRadiological signs of Leri-Weill dyschondrosteosis present in the A170P carrier
Download from www.researchgate.netMild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr
Download from www.researchgate.netFamilial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations
Download from www.researchgate.netA Non-Pathogenic Pseudoautosomal Region 1 Copy Number Variant Downstream of SHOX
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