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List of works by María Palomares-Bralo

Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor

scientific article published on 28 August 2015

Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature

scientific article published on 11 December 2020

Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses

scientific article published on 28 March 2019

Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus

scientific article published in 2021

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.

scientific article published on 11 January 2017

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

scientific article published on 04 November 2019

Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system

scientific article published on 13 September 2020

Molecular and histologic insights on early onset cardiomyopathy in Danon disease females

scientific article published on 23 November 2020

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

scientific article published on 8 April 2015

Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability

scientific article published on 18 August 2020

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases

scientific article published on 03 May 2019

mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review.

scientific article published on 11 September 2017

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