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Cancer Letters|January 9, 2008
Identification of novel chromosomal abnormalities and prognostic cytogenetics markers in intracranial pediatric ependymomaAnnalisa Pezzolo, Valeria Capra, Alessandro Raso, et al.
Birth Defects Research|May 28, 2020
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorderAndrea Accogli, Marcello Scala, Marco Pavanello, et al.
Journal of Human Genetics|July 12, 2002
Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian populationPatrizia De Marco, Maria Grazia Calevo, Anna Moroni, et al.
Human Molecular Genetics|April 4, 2017
Scribble1 plays an important role in the pathogenesis of neural tube defects through its mediating effect of Par-3 and Vangl1/2 localizationFares Kharfallah, Marie Claude Guyot, Abdul Rahman El Hassan, et al.
Human Mutation|September 9, 2011
Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defectsCiprian M Bosoi, Valeria Capra, Redouane Allache, et al.
Italian Journal of Pediatrics|October 13, 2021
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variantsMarcello Scala, Midas Anijs, Roberta Battini, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|January 6, 2011
Maternal periconceptional factors affect the risk of spina bifida-affected pregnancies: an Italian case-control studyPatrizia De Marco, Elisa Merello, Maria Grazia Calevo, et al.
European Journal of Human Genetics : EJHG|April 4, 2003
Reduced folate carrier polymorphism (80A-->G) and neural tube defectsPatrizia De Marco, Maria Grazia Calevo, Anna Moroni, et al.
European Journal of Human Genetics : EJHG|May 18, 2017
Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial developmentElisa Merello, Lorenzo Tattini, Alberto Magi, et al.
Molecular Cytogenetics|December 6, 2014
Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disordersStefania Gimelli, Valeria Capra, Maja Di Rocco, et al.
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