O. Scarciolla

发表

Familial idiopathic hyper‐CK‐emia: An underrecognized condition

G. Comi, L. Stuppia, M. Pace, 2006, Muscle & nerve.

Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum

F. Brancati, E. Valente, B. Dallapiccola, 2007, Human mutation.

Myocardial iron overload assessed by magnetic resonance imaging (MRI)T2* in multi-transfused patients with thalassemia and acquired anemias.

M. Francone, G. Quarta, A. Peluso, 2011, European journal of internal medicine.

Whorled hairless nevus of the scalp, linear hyperpigmentation, and telangiectatic nevi of the lower limbs: A novel variant of the “phacomatosis complex”

M. Castori, S. Morlino, P. Grammatico, 2012, American journal of medical genetics. Part A.

Multiplex ligation‐dependent probe amplification and fluorescence in situ hybridization to detect chromosomal abnormalities in Chronic lymphocytic leukemia: A comparative study

A. Neri, M. Ferrarini, G. Cutrona, 2011, Genes, chromosomes & cancer.

A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome.

V. Gatta, L. Stuppia, O. Scarciolla, 2004, Mutation research.

Multiplex ligation‐dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements

F. Brancati, E. Valente, B. Dallapiccola, 2007, Movement disorders : official journal of the Movement Disorder Society.

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)

V. Gatta, L. Stuppia, A. Uncini, 2005, Human Genetics.

Peripheral blood hemophagocytosis in an unusual lymphoma

A. Ciancio, O. Scarciolla, A. Fragasso, 2014, Clinical case reports.

Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification

B. Dallapiccola, I. Torrente, P. Grammatico, 2006, Neurogenetics.

The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in Italy

V. Gatta, L. Stuppia, A. Colosimo, 2003, Journal of endocrinological investigation.

Identification in chromosome 8q11 of a region of homology with the g1 amplicon of the Y chromosome and functional analysis of the BEYLA gene.

V. Gatta, L. Stuppia, G. Calabrese, 2005, Genomics.

Holotranscobalamin Is a Useful Marker of Vitamin B12 Deficiency in Alcoholics

A. Ciancio, O. Scarciolla, Rocco Clemente, 2012, TheScientificWorldJournal.

Novel Germline Mutation (Q1260X) in APC Gene Causes Familial Adenomatous Polyposis in a Ukrainian Family

Aless, O. Scarciolla, R. Cifarelli, 2013 .

Identification of a novel mutation in the SRY gene in a 46, XY female patient.

G. Novelli, L. Stuppia, G. Frajese, 2006, European journal of medical genetics.