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Lista de obras de Matteo Della Monica

A family with X-linked recessive fusion of metacarpals IV and V

scientific article published on 01 February 2004

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation

artículo científico publicado en 2016

Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome.

artículo científico publicado en 2004

Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution and uniparental disomy studies

article published in 1999

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

artículo científico publicado en 2019

Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26).

artículo científico publicado en 2003

Novel findings in a patient with Weaver or a Weaver-like syndrome

scientific article published on 01 May 1996

Prenatal ultrasound diagnosis of cloacal exstrophy associated with myelocystocele complex by the 'elephant trunk-like' image and review of the literature.

artículo científico publicado en 2005

Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?

artículo científico publicado en 2017

Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: the masterpieces of the "Sansevero Chapel".

artículo científico publicado en 2013

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