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List of works by Lorenzo Pinelli

Autoimmune Frontotemporal Dementia: A New Nosological Entity?

scientific article

Congenital Systematized Basaloid Follicular Hamartoma with Microphthalmia and Hemimegalencephaly ⬇️

scientific article published on November 9, 2010

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

scientific article published on 16 May 2013

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

scientific article

Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature

article

MR Imaging Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia in Fetuses with Developmental Ventriculomegaly

scientific article published on 08 June 2017

Meningovascular Syphilis: A Vascular Syndrome with Typical Features?

scientific article published on 01 January 2001

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

scientific article published on May 2013

Neuroimaging Changes in Menkes Disease, Part 1.

scientific article

Petrous Bone CT Findings in Patient With 3MC Syndrome

scientific article published on 01 September 2018

Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients

scientific article

SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients.

scientific article published on 16 December 2017

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.

scientific article

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