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List of works by Giulia Pascolini

A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations

scientific article published on 02 May 2020

Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses.

scientific article published on 21 December 2015

Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.

scientific article published on 27 August 2013

Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome

scientific article published on 28 December 2020

Correction to: Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres

scientific article published on 01 March 2019

Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication

scientific article published on 11 June 2020

Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

scientific article published on March 2015

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement

scientific article published on 3 February 2018

Incidental finding of an Xq microdeletion in a girl with Trichorhinophalangeal Syndrome Type I harboring a novel TRPS1 Nonsense mutation

scientific article published on 12 April 2018

Koolen-de Vries syndrome in the first adulthood patient of Southern India ancestry

scientific article published on 12 December 2020

Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients.

scientific article published on 5 April 2017

Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia

scientific article published on 23 February 2015

Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres

scientific article published on 06 July 2018

The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers

scientific article published on 13 May 2019

The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype

scientific article published on 29 January 2020

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