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ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection

artículo científico publicado en 2022

Alazami syndrome: the first case of papillary thyroid carcinoma

scientific article published on 28 October 2019

Biomarkers of cancer angioprevention for clinical studies

artículo científico publicado en 2015

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies

artículo científico publicado en 2020

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study

artículo científico publicado en 2024

Identification of the DNA methylation signature of Mowat-Wilson syndrome

artículo científico publicado en 2024

Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding

artículo científico publicado en 2020

MMPs and angiogenesis affect the metastatic potential of a human vulvar leiomyosarcoma cell line

artículo científico publicado en 2015

Microcirculation density and maturity in uterine and soft tissue leiomyosarcomas: an immunohistochemical study

artículo científico publicado en 2014

Mowat-Wilson syndrome: growth charts

artículo científico publicado en 2020

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

artículo científico publicado en 2016

Paroxysmal movement disorder with response to carbamazepine in a patient with RHOBTB2 developmental and epileptic encephalopathy

artículo científico publicado en 2020

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

artículo científico publicado en 2018

Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11

scientific article published on 08 August 2018

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6

artículo científico publicado en 2019

Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review

artículo científico publicado en 2020

Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study

scientific article published on 26 April 2019

The angiogenic asset of soft tissue sarcomas: a new tool to discover new therapeutic targets.

artículo científico publicado en 2014

Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes

scientific article published on 01 May 2018

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