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Lung Cancer (Amsterdam, Netherlands)|June 24, 2008
Functional polymorphisms of the microsomal epoxide hydrolase gene: a reappraisal on a early-onset lung cancer patients seriesClaudio Graziano, Camilla Eva Comin, Clemente Crisci, et al.
Developmental Medicine and Child Neurology|December 14, 2011
Intracranial calcification in early infantile Krabbe disease: nothing new under the sunJohn H Livingston, Claudio Graziano, Karen Pysden, et al.
Biomedicines|January 21, 2022
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing LossAnna Morgan, Flavio Faletra, Giulia Severi, et al.
Cytogenetic and Genome Research|April 2, 2019
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex PhenotypeGiulia Severi, Elena Bonora, Annamaria Perri, et al.
Prenatal Diagnosis|September 30, 2006
Psychological consequences of prenatal diagnosis in a case of familial Angelman syndromeDaniela Turchetti, Elisabetta Razzaboni, Hila Zomer, et al.
Clinical Chemistry and Laboratory Medicine|March 18, 2015
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assayGianpietro Giorgi, Alberto Casarin, Eva Trevisson, et al.
Molecular Syndromology|April 8, 2024
A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19Giulia Parmeggiani, Raffaella Minardi, Antonella Boni, et al.
Progress in Neurobiology|January 24, 2012
Genetics of human enteric neuropathiesEmanuele Panza, Charles H Knowles, Claudio Graziano, et al.
Medicina (Kaunas, Lithuania)|June 14, 2020
Kidney Transplant in Fabry Disease: A Revision of the LiteratureIrene Capelli, Valeria Aiello, Lorenzo Gasperoni, et al.
Journal of Medical Genetics|September 20, 2011
Two distinct thyroid tumours in a patient with Cowden syndrome carrying both a 10q23 and a mitochondrial DNA germline deletionLaura Maria Pradella, Roberta Zuntini, Pamela Magini, et al.
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