• "Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype
• Assessment of cephalometric parameters and correlation with the severity of the obstructive sleep apnea syndrome
• Bloating is associated with worse quality of life, treatment satisfaction, and treatment responsiveness among patients with constipation-predominant irritable bowel syndrome and functional constipation
• Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions
• Chronic constipation diagnosis and treatment evaluation: the "CHRO.CO.DI.T.E." study
• Complications during Veno-Venous Extracorporeal Membrane Oxygenation in COVID-19 and Non-COVID-19 Patients with Acute Respiratory Distress Syndrome
• Constipation severity is associated with productivity losses and healthcare utilization in patients with chronic constipation
• Electroclinical patterns and evolution of epilepsy in the 4p- syndrome
• Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome
• Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
• New autosomal recessive syndrome of mental retardation, coarse face, microcephaly, epilepsy and skeletal abnormalities
• NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome
• Nonsyndromal overgrowth in males with mild psychomotor delay
• Novel mutation of the sex-determining region on the Y chromosome in a 46,XY female patient with monolateral dysgerminoma: a case report
• Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria
• The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy
• Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16